Saint Mary s Hospital Tests for you and your baby during pregnancy

Size: px
Start display at page:

Download "Saint Mary s Hospital Tests for you and your baby during pregnancy"

Transcription

1 Maternity Service Saint Mary s Hospital Tests for you and your baby during pregnancy

2 Contents Page What is this leaflet about? 3 Routine blood tests for the mother 4 Anaemia 4 Blood group 4 German measles (rubella) 4 Syphilis 4 Hepatitis B 4 HIV and AIDS 4 Thalasseamia and sickle cell anaemia 4 Dating scan 5 Anomaly scan 6 Downs Syndrome 7 Spina bifida 12 Twins or triplets 12 Information about other tests that may be relevant to some pregnant women 13 Immunity to chickenpox 13 Glucose tolerance test 13 Amniocentesis 14 Chorionic Villus Sampling (CVS) 16 Comparing amniocentesis and CVS 17 A quick guide to testing in pregnancy 17 What if something is wrong with your pregnancy? 19 Useful contact numbers 19 2

3 What is this leaflet about? Most women will have normal healthy pregnancies and the great majority of babies will develop normally in the womb. During pregnancy women are offered a range of tests which are designed to check whether the baby is developing normally and if the pregnancy is going well. This leaflet has been produced to help pregnant women and their families to decide whether or not to have the tests that are offered during pregnancy. These tests help to discover some problems that may occur with the pregnancy or the baby. You can choose whether to have these tests or not. You may choose to have some but not others. Before you have any tests it is important that you think carefully about them. Think about how you would feel if the result was normal, but, more importantly, think about how you would feel if the result was abnormal what would you do then? All tests and investigations are optional. What sorts of tests are there? There are three types of tests they are: Routine blood tests for the mother These check your general health. Screening tests These tell you whether you have an increased chance (risk) of your baby being born with a condition such as Down s syndrome or heart problems. These can either be blood tests or ultrasound scans. They do not give you any definite answers, they simply tell you how likely a problem is. Screening tests are not foolproof. They can sometimes miss problems or find unexpected ones. Diagnostic tests These tests are offered to women who have an increased risk of having a baby with a problem. We may know that they are at increased risk because of the result of a screening test, or because of a woman s age or because of previous problems. Diagnostic tests give a definite answer as to whether a problem is present or not. However, with diagnostic tests such as amniocentesis, there is a small chance of causing a miscarriage to a healthy baby. The first half of this booklet gives you information about the routine tests normally offered in pregnancy. The second half covers, in more detail, some of the tests offered to particular groups of pregnant women. Your midwife, GP or the hospital staff are happy to talk to you about the tests and answer any questions you may have. They will support you in whatever choice you make. 3

4 Routine blood tests for the mother A number of tests will be offered at your first contact with your community midwife or at the hospital visit, and some of these will be repeated at later visits. They are all done to assist in maintaining your health and well being during pregnancy. The Department of Health recommends that all pregnant women are offered these tests. These may include tests to see: Whether you are anaemic If you are anaemic you will probably be given iron and folic acid tablets to take. Anaemia makes you tired and less able to cope with losing blood at delivery. Whether your blood group is Rhesus positive or negative A few women are Rhesus negative. Rhesus negative women occasionally develop complications which make their baby anaemic and jaundiced. This complication can be prevented by giving injections at certain times during the pregnancy. It is therefore important to find out whether you are Rhesus negative. If you want to know more about this your midwife can give you a leaflet which will explain it in more detail. Whether you are immune to German measles (rubella) If you get German measles early in pregnancy it can seriously damage your unborn baby. Whether you are affected by Syphilis It is important to detect this infection as soon as possible in pregnancy. Treatment with antibiotics will cure the infection and prevent it from causing long term problems in your baby. Whether you are affected by Hepatitis B This is a virus which can cause liver disease. If you carry the hepatitis B virus it is likely that you could pass it on to your baby at birth. The good news is that there is a vaccine which can be given to your baby to protect him/her. If you are a carrier of hepatitis B, we will let you know so that you and your family can have the right follow up care. Whether you are affected by HIV This virus can be passed from mother to baby during pregnancy. If the mother carries the virus, treatment can be given to reduce the risk of her passing it on to the baby. If you are affected by HIV, specialist care is available for you and your baby. There will also be the opportunity for your partner and family to be tested. Whether you have Thalassaemia and sickle cell anaemia Thalassaemia and sickle cell anaemia are two serious blood disorders that can be inherited (run in the family). Although these blood disorders are more common in people from Asia, Africa and the Mediterranean countries we offer testing for these blood disorders to all women. For a baby to have either thalassaemia or sickle cell anaemia it needs to inherit two genes for the disorder, one from its mother and one from its father. A simple blood test can show whether you have one of these genes. If we receive a result which needs further investigation, we will refer you and the baby s father to the Thalassaemia and Sickle Cell Centre and they will send you an appointment. 4

5 How will I get the results? You will usually receive all the results of the tests you have consented to at your 16 or 20 week visit or by letter. If they are abnormal you may be informed by letter sooner. Dating scan All women who book for delivery at Saint Mary s Hospital will be offered a dating scan. You will be given information about the scan when you first meet your midwife in the community and or at the booking visit. At these appointments you will be given a leaflet Having an Early Pregnancy scan which will explain how and why the scan is done. The scan will be performed after your booking appointment (usually between 8 and 14 weeks of pregnancy) when you have had time to read the leaflet and decide if you wish to have it. If you have had a scan before attending for the booking appointment and it showed that you were more than 8 weeks pregnant then another scan is not usually offered. How is the scan done? You need a full bladder as this helps us get a better view. You will be asked to lie on a bed. The person doing the scan will put some jelly on your tummy and then rub a smooth probe (the scan camera ) over your tummy, which relays images to a screen. It does not hurt you and it does not harm your baby. It takes about 10 minutes. Why is this scan done? You can choose whether or not to have a scan, but these are the main reasons why it can be useful: To check the baby s heartbeat. Some women unfortunately miscarry early in the pregnancy without realising it. An early scan can reassure most women that all is well. To count the number of babies. Women with twins or triplets need to be monitored more closely during their pregnancy. If you are having twins or triplets it is better if we find out sooner rather than later. To measure the baby to check when the baby is due. If you are considering having the combined screening for Down s syndrome, the dating scan and the Nuchal translucency scan may be done at the same time. (see page 9). If you decided that you did not want the test for Down s Syndrome then a dating scan only wold be done. Although this first scan would not usually pick up problems with the development of baby, they are sometimes noticed at this early stage. If a problem was found your doctor would discuss it with you. The scan may not be as clear if women have an increased Body Mass Index (are overweight) or when the baby is in a certain position. Can I buy a photograph? You can buy a photograph of the scan. It costs 3 and you will need three 1 coins for the machine. Can I take a video/dvd? No. This is not possible at Saint Mary s Hospital. 5

6 Anomaly scan You will be offered a scan between 18 weeks and 20 weeks plus 6 days into your pregnancy. This scan is used to check whether your baby is developing normally, or whether it has any obvious abnormality. You will be given information about the scan when you first meet your midwife in the community and or at the booking visit. At these appointments you will be given a leaflet Having an 18 to 20+6 weeks Fetal Anomaly scan which will explain how and why the scan is done. This is given early in your pregnancy to give you time to read the leaflet and decide if you wish to have it. If you decide not to have the fetal anomaly scan you will be offered a scan at weeks to check the baby s growth and placental site. Sometimes obvious abnormality may be detected even though we were not checking for it. How is the scan done? The scan is done in the same way as the dating scan. You will need to have a full bladder to help us see things clearly. It takes about 20 minutes. Sometimes the scan may need to be repeated if we can t see everything clearly. What happens if a problem is picked up? Most babies look normal on the scan but sometimes a problem is picked up. If there is a problem seen on the scan your doctor will explain this to you. The problems identified on scan range from minor problems to very serious problems. Many of the problems we identify on scan are relatively minor, and simply need following up by further scans during the pregnancy and after delivery. Sometimes further tests may be offered to get more information. With some problems the scan helps you and your doctors to prepare for the birth of a baby which may need special treatment after delivery. Occasionally a very serious problem may be picked up on the scan. In this situation some parents may feel that they would not want to continue with the pregnancy and ending the pregnancy would be an option. Other parents would choose to continue with the pregnancy. In this situation we would want to ensure that you had all the information before you made a decision about your pregnancy. You would not be rushed into making a decision and we would support you fully in whatever you chose to do. The scan may not be as clear if women have an increased Body Mass Index (are overweight) or when the baby is in a certain position. Who can I bring with me? You can bring one person to the scan with you. It is important to remember that this is an important test to check whether your baby is normal. It is important not to distract the person performing the scan, so that they can concentrate on checking your baby carefully. Can I buy a photograph? After your baby has been checked, you will be shown your baby on the screen and you can buy a photograph of the scan. It costs 3 and you will need three 1 coins for the machine. Can I take a video/dvd? No. This is not possible at Saint Mary s Hospital. 6

7 Are all problems picked up? No. Only seven out of ten problems are picked up on scan. This means that some babies can be born with problems even when the scan appeared normal. These include conditions such as Down s syndrome, heart problems and problems in the baby s development that occur later on in pregnancy. Some problems are easier to detect than others. The baby will not be seen as clearly in women who have an increased Body Mass Index (overweight) or when the baby is in certain positions. The table below shows how easy or difficult it is to pick up the different problems. Problem What the problem is Chance of being seen Spina bifida Open spinal cord 90% Anencephaly Absence of the top of the head 99% *Ventriculomegaly Excess fluid within the brain 60% *Major heart problems 25% *Diaphragmatic hernia A defect in the muscle which separates the chest and abdomen 60% Exomphalos/gastroschisis Defects of the abdominal wall 90% Major kidney problems Missing or abnormal kidney 85% Major limb abnormalities Missing bones or very short limbs 90% Cerebral Palsy Spasticity Never seen Autism Never seen *Many cases present late in pregnancy or even after birth Ref RCOG Routine Ultrasound Screening in Pregnancy Protocol, Standards and Training London 2000 What is Down s Syndrome? The word syndrome means a collection of characteristics. Although people with Down s Syndrome all have their own individual characteristics, they also have physical features shared by others with Down s Syndrome. People with Down s Syndrome also have learning difficulties. About half of all babies born with Down s Syndrome will have a heart problem or a problem with the bowel, and more than half have significant hearing problems or problems with their sight. Some of these babies will die very young, but many will have a normal length of life. In the UK about 600 babies are born with Down s Syndrome each year. It occurs in families from all social, cultural, religious and racial backgrounds. However, the chance of having a baby with Down s Syndrome increases as a mother gets older. 7

8 This chart shows what chance women of different ages have of giving birth to a baby with Down s Syndrome Age of the mother Risk of Down s Syndrome Ref Cuckle et al, in in in in in in in in in in in in in in in in in in in in in in in in in in 23 How does it occur? Our bodies are made from millions of cells which are too small to be seen with the naked eye. Every cell contains chromosomes, which carry the recipe, or blueprint, for all the characteristics we inherit. Normally there are 46 chromosomes, but a baby with Down s Syndrome has an extra chromosome, making 47 in total. This results in a disruption to the growth of the developing baby. Can I have a test to find out if my baby has Down s syndrome? There are several different tests available for Down s Syndrome. The tests are offered because some women would choose to have a termination (abortion) if they knew that the baby they were carrying had Down s Syndrome. Others may just wish to be prepared for the birth of a baby with Down s Syndrome. You will have your own views on what you would wish to do. Before you have a test it is important that you think carefully about it. Think about how you would feel if the result was normal, but more importantly think about how you would feel if the result was abnormal what would you do then? 8

9 Screening test for Down s syndrome The screening tests that we routinely offer at Saint Mary s Hospital are the combined test and Quadruple test. Combined test (Nuchal Translucency scan and a blood test) A Nuchal Translucency scan measures the amount of fluid under the skin at the back of the baby s neck and the blood test measures the levels of two hormones in your blood. We use this information together with your age and weight to estimate the chance of your baby having Down s syndrome. If the chance was more than 1 in 150 we would say that this is an increased chance. If the chance was less than 1 in 150 we would say that this is a low chance. The test can be performed between 11 weeks and 2 days and 14 weeks and 1 day of pregnancy. We would aim to perform this test at about 12 weeks of pregnancy. This test will be offered to you if you book for care early in pregnancy. If the sonographer is unable to measure the fluid at the back of the baby s neck you will be offered an alternative test the quadruple test which has a similar detection rate for Down s syndrome. This test does not screen for any other chromosome linked conditions. This test is also suitable for women with a twin pregnancy. Quadruple test (Blood test) The blood test measures the levels of four hormones in your blood. We use this information together with your age and weight to estimate the chance of your baby having Down s syndrome. If the chance is more than 1 in 150 we would say that this is an increased chance. If the chance was less than 1 in 150 we would say that this a low chance. The test can be performed between 14 weeks and 2 days and 20 weeks of pregnancy. We would aim to perform this test at about 16 weeks of pregnancy. This test is offered to women who book for care later in pregnancy or for those where the sonographer has not been able to measure the fluid at the back of the baby s neck. These blood tests does not tell you whether your baby definitely has Down s Syndrome. It simply tells you whether you are at increased chance or low chance of having a baby with Down s Syndrome. If you are at increased chance it does not mean that your baby definitely has Down s Syndrome even in the increased chance group the majority of babies are normal. If you are at low chance it does not mean that your baby definitely does not have Down's Syndrome. There is a small chance that your baby may still have Down's Syndrome. 9

10 What does 1 in 150 mean? If 150 babies were born just one of them would have Down s syndrome. The other 149 would not have Down s Syndrome. If your screening test showed that you were in the high risk group you would be offered an amniocentesis or Chorion Villus Biopsy find out definitely (over 99% accurate) whether your baby had Down s Syndrome or not. Only you can decide whether to have the amniocentesis test CVB. No one else can make that decision for you. That is why you should think very carefully before you have the screening test. Amniocentesis (explained more fully on pages 14-15) An amniocentesis involves putting a needle into your tummy and taking some of the fluid from around baby. This test would tell you definitely whether your baby had Down s Syndrome or not. Amniocentesis carries a small risk of miscarriage. Some women who are already at higher risk, because they have had a previous baby with Down s Syndrome may feel that they need to have a definite answer and are prepared to accept a small risk of miscarriage in order to find out. Such women may choose not to have the screening test, first but proceed directly to amniocentesis. If you feel this way please discuss it with your doctor or midwife. Chorion Villus Sampling (explained more fully on page 16) Women at particularly high risk of having a baby with Down s Syndrome may choose to have chorion villus sampling. This test involves taking a small piece of the placenta (afterbirth). Although the test can be done earlier in pregnancy (from 11 weeks' gestation) than an amniocentesis, the risk of miscarriage is higher. In my last pregnancy the blood test was ok do I need to have it again? Every pregnancy is different. Results from a previous pregnancy don t apply to this pregnancy. Also you are older now than you were last time so the risk of Down s Syndrome has increased. 10

11 Does the blood test check for anything else? Although the tests are primarily tests for Down s syndrome, a raised or low level of some of the hormones can indicate the possibility of other problems in the pregnancy. In the quadruple test we know that a high level of one of the hormones (afp) is seen in pregnancies where there may be a problem with the development of the spine (spina bifida see page 12), or the baby s tummy wall. It can also be high if there has been bleeding in the pregnancy. When we see a high level it alerts us to check the growth of the baby later in the pregnancy. However, it can also be high in some normal pregnancies. If the level of the chemicals were raised we would arrange a detailed scan to check your baby s spine and tummy wall. If any of the hormone levels were high or low we would suggest repeating the scan later in pregnancy to check the growth of the baby. This would be done in the Placenta clinic. Fetal Growth Restriction Fetal growth restriction (FGR) occurs where the baby s growth slows down in late pregnancy and this means that the baby will be smaller than expected at birth. This complication occurs in around 5-8% of pregnancies and can cause problems for the baby during and after birth. It is therefore important that doctors and midwives detect this problem as early as possible. The most common cause of FGR is a problem with the placenta (afterbirth) which reduces the supply of nutrients necessary for baby s growth and development. Research has shown that changes in some of the blood hormones measured in the Down s screening test can also alert doctors to the possibility of problems with the placenta and FGR later in pregnancy. If these changes are present an extra ultrasound scan at around 23 weeks of pregnancy will give doctors a better idea of whether FGR is likely to occur and to plan your care appropriately. Therefore, if your hormone levels indicate a possible risk, you will be invited to attend for a scan at 23 weeks of pregnancy at the Manchester Placenta Clinic. Saint Mary s is one of the first hospitals in the country to offer additional ultrasound scanning when these hormone levels indicate a risk. It is important to stress that these changes in hormone levels do not mean there is a problem with the baby s growth; only that the risk of growth restriction is increased. Most women who have these hormone changes will have a normal pregnancy and a normal sized baby. How do I get the blood test done? Discuss this with your midwife. She will arrange an appointment for the test at the appropriate stage of your pregnancy. How will I get the result? Your midwife will ask you how you would want to be contacted if the test shows that you are at increased risk of having a baby with Down s Syndrome. The quickest way is for us to phone you. If the test shows that you are low risk we will write to you. The results take about 2 weeks. Please think carefully! Remember that everyone s circumstances and views are different. Would the information from the test alter what you do in your pregnancy? The test will be offered to you, but it is your own personal choice whether to have it or not. 11

12 Spina bifida Spina bifida is the name of a condition where there is an opening somewhere along the length of the baby s spine. In its worst form it causes paralysis of the lower limbs and permanent incontinence of the bladder and bowels. It can also cause a build up of fluid in the brain (hydrocephalus). Spina bifida occurs in one out of every 500 pregnancies. Can I do anything to prevent my baby having spina bifida? By taking the vitamin Folic acid you can reduce the chance of your baby having spina bifida. Ideally you should take a 400 microgram tablet of folic acid every day for three months before you get pregnant and for the first twelve weeks of your pregnancy. You can buy the tablets from the chemist or supermarket or get a prescription from your doctor. You may be at greater risk if: You have already had a pregnancy affected by spina bifida You or your partner has spina bifida You or your partner has a parent/brother/sister with spina bifida You are taking tablets for epilepsy You have Diabetes (Type 1 and 2) If you fall into one of these groups, you will need to take a stronger 5 milligram tablet of folic acid which is only available by getting a prescription from your doctor. Are there any tests for spina bifida? The best way of checking for spina bifida is the anomaly scan which offered between 18 weeks and 20 weeks plus 6 days of pregnancy. The level of a chemical in the mother s blood (afp) (which is checked as part of the Quadruple test for Down s Syndrome) is raised in women whose baby has spina bifida. However, it can also be raised for other reasons, for example, if a woman has bled during pregnancy. If the level of afp was raised the next step would be to arrange a detailed scan to look at the spine, and the rest of the baby. Twins or triplets (multiple pregnancy) Although most twins and triplets are normal, these pregnancies do require more monitoring than usual. If you have a twin pregnancy you will be offered the combined screening test for Down s syndrome. If you have a triplet pregnancy the combined screening is not usually offered. You would be seen in a specific Multiple Pregnancy Clinic where your doctor or Midwife will discuss your options with you. In some multiple pregnancies there is an increased risk of abnormalities in the babies and the scans can be more difficult to perform. More scans will be offered during your pregnancy to check on the growth of the babies and to check for complications. Your midwife or doctor will be happy to talk to you about the implications and possible problems of a multiple pregnancy. 12

13 Information about others tests that may be relevant to some pregnant women Immunity to Chickenpox Glucose tolerance test to check how well your body deals with sugar in pregnancy. Amniocentesis Chorionic Villus Biopsy (CVB) Immunity to Chickenpox Most adults are immune to chickenpox, either because they had it when they were younger, or because they have been in contact with it so much that they have built up their immunity. Chickenpox is therefore much less common in adults than children. However, if a pregnant woman gets chickenpox it can cause a severe pneumonia. Effects on the unborn baby are rare. If you happen to come into contact with someone with chickenpox during your pregnancy you should let your midwife know immediately by telephoning Saint Mary s Hospital on Please do not attend the antenatal clinic, telephone the above number and ask to speak to a midwife. A sample of your blood taking at your booking visit will be checked to see whether you are immune to chickenpox or not. If you are already immune, then nothing more needs to be done. However if you are not immune you may be offered some treatment. The treatment may prevent you from developing chickenpox, or if you still get chickenpox it would be milder. Glucose Tolerance Test Usually your body controls the levels of sugar in the blood. Sometimes in pregnancy the control of the level of the sugar in the blood is not quite as good as it should be. These women tend to get higher levels of sugar than normal and this is called Gestational Diabetes (Gestational means related to pregnancy). Certain groups of women (women from South Asia, Middle Eastern or Afro Caribbean background) are more likely to develop gestational diabetes and women with a family history of diabetes or who are obese. Your midwife or doctor will offer you a Glucose Tolerance Test will see how your body handles a measured amount of sugar. 13

14 What is involved in the test? Have nothing to eat or drink (except water) from pm the night before the test. Attend the Antenatal Clinic at the appointment time you have been given. A blood sample will be taken to measure the level of sugar in your blood when it is at its lowest (you ve been starving all night). You ll then be given a measured amount of sugar in a drink (don t eat or drink anything else for the next two hours). After two hours a second blood sample will be taken to see how your body has dealt with the sugar you were given. What will the results show? If the test is normal nothing further needs to be done. If the test shows high blood sugar levels you will be put in contact with the Diabetes Specialist Midwives for advice. What happens after I have had my baby? As this problem is related to pregnancy your blood sugar usually goes back to normal when the pregnancy is over. Women who are diagnosed with gestational diabetes are offered a glucose tolerance test six weeks after delivery of a baby. This is to confirm that your blood sugar has returned to normal. It is important to adhere to healthy lifestyle changes, for example diet, and maintain a normal weight and exercise as you are at increased risk of developing diabetes in later years. You are advised to see your GP yearly to have a blood test to detect early onset of diabetes. If you get pregnant again it is likely that you will develop gestational diabetes in a future pregnancy. Amniocentesis When the baby is in the womb it is surrounded by amniotic fluid. This fluid contains cells that have the same chromosomes as your baby. This means that we can use a small amount of this fluid if we want to check the chromosomes of the baby. How is the amniocentesis done? An amniocentesis is done by passing a fine needle through the mother s abdominal wall into the fluid around your baby. We watch the needle carefully on ultrasound scan all the time to ensure that it is correctly positioned in the fluid. We then take mls (three to four teaspoonfuls) of fluid and send it to the laboratory. The procedure only lasts for a few minutes. Very occasionally we do not get enough fluid at the first attempt and the needle needs to be inserted again. 14

15 Does it hurt? You feel a prick as the needle goes through the skin. This is similar to the prick you feel when having a blood test. Once the needle is inside there is some vague discomfort, but not pain, and it only lasts for a minute or two. What should I do after an amniocentesis? For the first day or two you may have some crampy pain, like mild period pain. You may find it helpful to take paracetamol it is safe to take Paracetamol has been used routinely during all stages of pregnancy for pain relief. Overall it does not seem to have any harmful effects on the baby. We advise you to take things easy for the first day or two, take a couple of days off work and avoid doing the housework. If you have a lot of pain, any bleeding or if you lose any fluid you should contact your local hospital. Although we use sterile equipment and antiseptics during the test there is always a small risk of introducing infection. If you develop flu like symptoms or get a smelly vaginal discharge within three weeks of the test you should see your family doctor (GP), or the doctor at your local hospital. When will I get the results? The three most common chromosome problems, including Down s syndrome, will be checked for in 2-3 working days. We will contact you when this first part of the test is available. The lab then continues to check the other chromosomes and it takes approximately two weeks to get the final result on all the chromosomes. We will discuss with you how you would like to be informed of the result. Many women like to be telephoned with the result as this is the quickest way of getting the results. Will the procedure need to be repeated? If we only get a very small sample, or if the sample is blood stained the result will take longer. Occasionally the cells from the sample fail to grow in the laboratory. This is rare, but if it does happen the test would have to be repeated. How accurate is the test? The test is very accurate over 99%. However, it is not 100% accurate. What are the risks associated with the test? There is a small risk of miscarriage associated with the test. The risk of miscarriage for any pregnant woman at this stage of pregnancy is about 0.5%. By doing an amniocentesis test we increase the risk of miscarriage by a further 0.5%, giving an overall risk of miscarriage after the test of 1%. Unfortunately, if a woman miscarries there is no way of knowing whether this was due to the test or whether it would have happened anyway, even if she hadn t had the test. Studies have suggested that if an amniocentesis is carried out before 14 weeks of pregnancy there is an increased risk of miscarriage. To avoid this risk we do not perform the amniocentesis test before 15 weeks of pregnancy. 15

16 Chorion Villus Sampling (CVS) Both the baby and the placenta (afterbirth) develop from the same cell and so the chromosomes present in the cells of the placenta are the same as those of the baby. This means that we can use a small piece of tissue from the placenta (a chorion villus sample) if we want to check the chromosomes of the baby. How is the CVS done? There are two ways in which samples can be obtained: 1 Usually the CVS is done by passing a fine needle through the mother s abdominal wall into the placenta. We watch the needle carefully on ultrasound scan all the time to ensure that it is correctly positioned in the placenta. The needle is then moved backwards and forwards to break off a tiny piece of placental tissue. The procedure only lasts for a few minutes. Sometimes we do not get an adequate sample at the first attempt and the needle needs to be inserted again. 2 Occasionally the CVS is done by passing a fine flexible tube through the cervix (neck of the womb) into the placenta. Exactly the same sample is obtained. For some women this method is more appropriate than the first. Does it hurt? You will feel some discomfort. However the test only lasts a few minutes and most women cope quite easily. What should I do after a CVS? For the first day or two you may have some crampy pain, like mild period pain. You may find it helpful to take paracetamol. Paracetamol has been used routinely during all stages of pregnancy for pain relief. Overall it does not seem to have any harmful effects on the baby. If the test has been done through the cervix you will probably have a little vaginal bleeding. We advise you to take things easy for the first day or two, take a couple of days off work and avoid doing the housework. If you have a lot of pain or bleeding you should contact your local hospital. When will I get the results? Most of the chromosome tests take approximately 2 weeks and rapid testing takes 2 3 working days. We will discuss with you how you would like to be informed of the result. Many women like to be telephoned with the result as this is the quickest way of getting the results. How accurate is the test? The test is very accurate over 99%. However, the test is not 100% accurate. Will the test need to be repeated? Occasionally we get an inconclusive result, or the cells from the sample fail to grow in the laboratory. This is rare, but if it does happen the test would have to be repeated. What are the risks associated with the test? There is a small risk of miscarriage associated with the test. The risk of miscarriage for any pregnant woman at this stage of pregnancy (12 weeks) is about 2%. By doing a CVB test we increase this risk by a further 1%. Unfortunately, if a woman miscarries there is no way of knowing whether this was due to the test or whether it would have happened anyway. Some studies have suggested that if a CVS test is carried out before 10 weeks of pregnancy there is a small risk of abnormalities to the baby s hands and feet. To avoid this risk we do not perform the test before 11 weeks of pregnancy. 16

17 Comparing amniocentesis and Chorionic Villus Sampling (CVS) Test When Miscarriage risk Result Amniocentesis 15 weeks onwards 1% Rapid test 2-3 days Approximately 2 weeks Chorionic Villus Sampling 11 weeks onwards 2-3% Rapid test 2-3 days Approximately 2 weeks Amniocentesis Fluid is taken from around the baby Chorion Villus Biopsy A small biopsy (sample) of the placental tissue is taken Ultrasound transducer placenta 17

18 A quick guide to testing in pregnancy Test Type Looks for When Results How is the test done Advantages Disadvantages Dating scan Screening and diagnostic Checks dates, baby s heartbeat, identifies twins and some serious abnormalities 8-14 weeks Immediate Ultrasound scan Takes 10 minutes Safe and usually reassuring Abnormal scan may lead to further testing Combined screening Screening Down s syndrome weeks 5 days (letter within 2 weeks of test) Nuchal Translucency (NT) scan and blood test Early in pregnancy, quick, suitable for twins. No miscarriage risk High risk result will need diagnostic for definite answer Quadruple test Screening Down s syndrome weeks 5 days Blood test Quick No miscarriage risk Not suitable for twins. High risk result will need diagnostic test for definite answer AFP Quadruple test only Screening Spina bifida weeks 5 days Blood test Quick No miscarriage risk Not specific. High risk results will need follow up with detailed scan Chorionic villus sampling Diagnostic Same as amniocentesis 11 weeks Approximately 2 weeks A fine needle is guided by scan through the mother s abdominal wall to take some of the tissue from the afterbirth (placenta) Definite answer Nearly 100% accurate Results early in pregnancy Miscarriage risk of 2-3% Amniocentesis Diagnostic Anomaly scan Screening and diagnostic Chromosome abnormalities such as Down s syndrome and other genetic conditions Abnormalities in the way baby has developed 15 weeks and over weeks Approximately 2 weeks Immediate A fine needle is guided by scan through the mother s abdominal wall to take some of the fluid from around the baby Ultrasound scan Takes 20 minutes Definite answer nearly 100% accurate Results early in pregnancy Safe Miscarriage risk of 1% Only picks up approx 70% of abnormalities. Abnormal scan may lead to further testing 18

19 What if something is wrong with your pregnancy? Although most babies being tested will be found to be normal, there will be some pregnancies where the baby is found to have a serious problem. Parents will have several options. Some will decide to proceed with the pregnancy and prepare for the birth of their baby. Others will make the difficult decision that the best option for them and their family is to terminate the pregnancy. Should you and your partner make this difficult decision to end the pregnancy, the way the procedure is carried out will depend on how far through the pregnancy you are. Your obstetrician will be able to give you more details about this and will support you throughout this difficult time, whatever your decision may be. It is more important to think about how you would feel if a problem is detected before having any of the tests. If you would like more information before you decide whether to proceed with the testing, please ask your midwife or doctor. Supervisors of Midwives All midwives are supported by a Supervisor of Midwives whose aim is to ensure the safety and wellbeing of you and and your baby. If you have any issues regarding your pregnancy or maternity care you can contact a supervisor of midwives at any time, day or night at: Tel: (ask for bleep number 6060). Useful contact numbers Antenatal clinic Delivery suite Midwifery Day Unit Further information on scans Miscarriage Association TAMBA Down s Syndrome Association Cleft Lip and Palate Association Sickle Cell/Thalassaemia advice Antenatal Results and Choices (ARC)

20 No Smoking Policy The NHS has a responsibility for the nation s health. Protect yourself, patients, visitors and staff by adhering to our no smoking policy. Smoking is not permitted within any of our hospital buildings or grounds. The Manchester Stop Smoking Service can be contacted on Tel: (0161) ( Translation and Interpretation Service Do you have difficulty speaking or understanding English? /6342 Maternity Service Saint Mary's Hospital Oxford Road Manchester M13 9WL TIG 62/03 Produced November 2011 Review Date November 2013 (SF Taylor CM3281)

Ultrasound scans in pregnancy

Ultrasound scans in pregnancy Ultrasound scans in pregnancy www.antenatalscreening.wales.nhs.uk Copyright 2016 Public Health Wales NHS Trust. All rights reserved. Not to be reproduced in whole or in part without the permission of the

More information

Prenatal screening and diagnostic tests

Prenatal screening and diagnostic tests Prenatal screening and diagnostic tests Contents Introduction 3 First trimester routine tests in the mother 3 Testing for health conditions in the baby 4 Why would you have a prenatal test? 6 What are

More information

Prenatal Testing Special tests for your baby during pregnancy

Prenatal Testing Special tests for your baby during pregnancy English April 2006 [OTH-7750] There are a number of different prenatal (before birth) tests to check the development of your baby. Each test has advantages and disadvantages. This information is for people

More information

A Guide to Prenatal Genetic Testing

A Guide to Prenatal Genetic Testing Patient Education Page 29 A Guide to Prenatal Genetic Testing This section describes prenatal tests that give information about your baby s health. It is your choice whether or not to have these tests

More information

First Trimester Screening for Down Syndrome

First Trimester Screening for Down Syndrome First Trimester Screening for Down Syndrome What is first trimester risk assessment for Down syndrome? First trimester screening for Down syndrome, also known as nuchal translucency screening, is a test

More information

The quadruple test screening for Down s syndrome and spina bifida

The quadruple test screening for Down s syndrome and spina bifida The quadruple test screening for Down s syndrome and spina bifida This leaflet provides information about a blood test to check for Down s syndrome and spina bifida. This test is available to you between

More information

Neural tube defects (NTDs): open spina bifida (also called spina bifida cystica)

Neural tube defects (NTDs): open spina bifida (also called spina bifida cystica) Screening Programmes Fetal Anomaly Neural tube defects (NTDs): open spina bifida (also called spina bifida cystica) Information for parents Publication date: April 2012 Review date: April 2013 Version

More information

Carrier detection tests and prenatal diagnosis

Carrier detection tests and prenatal diagnosis Carrier detection tests and prenatal diagnosis There are several types of muscular dystrophy and about 50 neuromuscular conditions, all of which fall under the umbrella of the Muscular Dystrophy Campaign.

More information

Neural Tube Defects - NTDs

Neural Tube Defects - NTDs Neural Tube Defects - NTDs Introduction Neural tube defects are also known as NTDs. They happen when the spine and brain do not fully develop while the fetus is forming in the uterus. Worldwide, there

More information

Screening tests for you and your baby

Screening tests for you and your baby Screening tests for you and your baby Important information for you to keep with your hand-held maternity records 2010 version In the busy time after the baby is born remember to look after your own

More information

Trisomy 13 (also called Patau s syndrome or T13)

Trisomy 13 (also called Patau s syndrome or T13) Screening Programmes Fetal Anomaly Trisomy 13 (also called Patau s syndrome or T13) Information for parents Publication date: April 2012 Review date: April 2013 Version 2 117 Information sheet to help

More information

Patient information on soft markers

Patient information on soft markers Patient information on soft markers Before you read this section remember the following important points. The vast majority of babies with soft markers are normal. Soft markers are frequently seen in healthy

More information

Obstetrical Ultrasound and Prenatal Diagnostic Center

Obstetrical Ultrasound and Prenatal Diagnostic Center Obstetrical Ultrasound and Prenatal Diagnostic Center Prenatal Diagnosis: Options and Opportunities Learn about various screening options including Early Risk Assessment (ERA), now available to women of

More information

Why your weight matters during pregnancy and after birth

Why your weight matters during pregnancy and after birth Information for you Published in November 2011 (next review date: 2015) Why your weight matters during pregnancy and after birth Most women who are overweight have a straightforward pregnancy and birth

More information

Twins and Multiples. Monochorionic diamniotic twins, Monochorionic monoamniotic triplets or Higher order multiples. Oxford University Hospitals

Twins and Multiples. Monochorionic diamniotic twins, Monochorionic monoamniotic triplets or Higher order multiples. Oxford University Hospitals Oxford University Hospitals NHS Trust Twins and Multiples Monochorionic diamniotic twins, Monochorionic monoamniotic triplets or Higher order multiples How common are multiple pregnancies? Women who are

More information

Chickenpox in pregnancy: what you need to know

Chickenpox in pregnancy: what you need to know Chickenpox in pregnancy: what you need to know First published December 2003 Revised edition published November 2008 What is chickenpox? Chickenpox is a very infectious illness caused by a virus called

More information

Gynaecology Service. Saint Mary s Hospital. The Whitworth Clinic. Information for patients

Gynaecology Service. Saint Mary s Hospital. The Whitworth Clinic. Information for patients Gynaecology Service Saint Mary s Hospital The Whitworth Clinic Information for patients Welcome to the Whitworth Clinic at Saint Mary s Hospital This leaflet will give you information about the service,

More information

Information for you A low-lying placenta (placenta praevia) after 20 weeks

Information for you A low-lying placenta (placenta praevia) after 20 weeks Information for you A low-lying placenta (placenta praevia) after 20 weeks Published in December 2011 Who is this information for? This information is intended to help you if you have, or have been told

More information

Mother s blood test to check her unborn baby s blood group

Mother s blood test to check her unborn baby s blood group Mother s blood test to check her unborn baby s blood group This leaflet explains why it is important to have a blood test to check the baby s blood group, so that only those who need it, receive anti-d

More information

Neural tube defects: open spina bifida (also called spina bifida cystica)

Neural tube defects: open spina bifida (also called spina bifida cystica) Screening Programmes Fetal Anomaly Neural tube defects: open spina bifida (also called spina bifida cystica) Information for health professionals Publication date: April 2012 Review date: April 2013 Version

More information

Investigation For Congenital Hypothyroidism

Investigation For Congenital Hypothyroidism Royal Manchester Children s Hospital Investigation For Congenital Hypothyroidism Medical Investigations Unit, Ward 76 Instructions For Parents and Carers Introduction Welcome to the Medical Investigations

More information

The costs of having a baby. Private system

The costs of having a baby. Private system The costs of having a baby Private system Contents Introduction 4 Weeks 1 4 5 Week 5 5 Week 6 6 Week 10 6 Week 11 7 Week 12 8 Week 15 8 Week 16 9 Week 20 9 Week 21 10 Week 22 10 Week 26 11 Week 32 11 Week

More information

Acute pelvic inflammatory disease: tests and treatment

Acute pelvic inflammatory disease: tests and treatment Acute pelvic inflammatory disease: tests and treatment Information for you Information for you Published August 2010 Published in August 2010 (next review date: 2014) Acute What is pelvic inflammatory

More information

Pre-implantation Genetic Diagnosis (PGD)

Pre-implantation Genetic Diagnosis (PGD) Saint Mary s Hospital Department of Genetic Medicine Saint Mary s Hospital Pre-implantation Genetic Diagnosis (PGD) Information For Patients What is PGD? Pre-implantation genetic diagnosis (PGD) is a specialised

More information

Influences on Birth Defects

Influences on Birth Defects Influences on Birth Defects FACTS About 150,000 babies are born each year with birth defects. The parents of one out of every 28 babies receive the frightening news that their baby has a birth defect There

More information

Cord blood banking: information for parents

Cord blood banking: information for parents Cord blood banking: information for parents Published August 2006 by the RCOG Contents Page number Key points 1 About this information 2 What is cord blood? 2 Why is cord blood useful? 3 How is cord blood

More information

Claiming Compensation for Birth Injuries.

Claiming Compensation for Birth Injuries. Clinical Negligence: Claiming Compensation for Birth Injuries. T H O M P S O N S F A C T S H E E T About birth injury Compensation Types of birth injury cases where compensation may be possible How to

More information

Balanced. translocations. rarechromo.org. Support and Information

Balanced. translocations. rarechromo.org. Support and Information Support and Information Rare Chromosome Disorder Support Group, G1, The Stables, Station Rd West, Oxted, Surrey. RH8 9EE Tel: +44(0)1883 723356 info@rarechromo.org I www.rarechromo.org Balanced Unique

More information

Obstetric Cholestasis (itching liver disorder) Information for parents-to-be

Obstetric Cholestasis (itching liver disorder) Information for parents-to-be Oxford University Hospitals NHS Trust Obstetric Cholestasis (itching liver disorder) Information for parents-to-be page 2 You have been given this leaflet because you have been diagnosed with (or are suspected

More information

Information for couples where both partners carry Haemoglobin S (sickle cell)

Information for couples where both partners carry Haemoglobin S (sickle cell) Information for couples where both partners carry Haemoglobin S (sickle cell) Including information on prenatal diagnosis Contacts for prenatal diagnosis centre Couple at risk for Sickle Cell Anaemia Ms

More information

Abdominal Aortic Aneurysm (AAA) General Information. Patient information Leaflet

Abdominal Aortic Aneurysm (AAA) General Information. Patient information Leaflet Abdominal Aortic Aneurysm (AAA) General Information Patient information Leaflet 1 st July 2016 WHAT IS THE AORTA? The aorta is the largest artery (blood vessel) in the body. It carries blood from the heart

More information

OUTPATIENT HYSTEROSCOPY SERVICES JASMINE SUITE

OUTPATIENT HYSTEROSCOPY SERVICES JASMINE SUITE OUTPATIENT HYSTEROSCOPY SERVICES JASMINE SUITE Information Leaflet Your Health. Our Priority. Page 2 of 6 This information is for patients having a hysteroscopy (diagnostic or operative). It explains what

More information

Blood Transfusion. There are three types of blood cells: Red blood cells. White blood cells. Platelets.

Blood Transfusion. There are three types of blood cells: Red blood cells. White blood cells. Platelets. Blood Transfusion Introduction Blood transfusions can save lives. Every second, someone in the world needs a blood transfusion. Blood transfusions can replace the blood lost from a serious injury or surgery.

More information

Information for you Abortion care

Information for you Abortion care Information for you Abortion care Published in February 2012 This information is for you if you are considering having an abortion. It tells you: how you can access abortion services the care you can expect

More information

LISTENING TO YOUR BABY S HEARTBEAT DURING LABOUR (FETAL HEART MONITORING)

LISTENING TO YOUR BABY S HEARTBEAT DURING LABOUR (FETAL HEART MONITORING) LISTENING TO YOUR BABY S HEARTBEAT DURING LABOUR (FETAL HEART MONITORING) Information Leaflet Your Health. Our Priority. Page 2 of 7 Introduction This leaflet will give you information on how Midwives

More information

Gestational Diabetes

Gestational Diabetes Gestational Diabetes What is it? How do we treat it? A Gestational Diabetes Information Booklet Supported by Gestational diabetes is having too much glucose (sugar) in your blood when you re pregnant.

More information

University College Hospital. Miscarriage Women s Health

University College Hospital. Miscarriage Women s Health University College Hospital Miscarriage Women s Health 2 Introduction The purpose of this leafl et is to: Describe what a miscarriage is and why it happens What it means for your health What treatment

More information

Thinking of getting pregnant?

Thinking of getting pregnant? Thinking of getting pregnant? Make sure you re protected against German measles the safest way to protect the health of you and your baby Catching German measles (rubella) can be very serious for your

More information

Developing Human Fetus

Developing Human Fetus Period Date LAB. DEVELOPMENT OF A HUMAN FETUS After a human egg is fertilized with human sperm, the most amazing changes happen that allow a baby to develop. This amazing process, called development, normally

More information

U.K. Familial Ovarian Cancer Screening Study (UK FOCSS) Phase 2 Patient Information Sheet

U.K. Familial Ovarian Cancer Screening Study (UK FOCSS) Phase 2 Patient Information Sheet U.K. Familial Ovarian Cancer Screening Study (UK FOCSS) Phase 2 Patient Information Sheet 1. Invitation You are being invited to take part in a research study. Before you decide it is important for you

More information

Each person normally has 23 pairs of chromosomes, or 46 in all. We inherit one chromosome per pair from our mother and one from our father.

Each person normally has 23 pairs of chromosomes, or 46 in all. We inherit one chromosome per pair from our mother and one from our father. AP Psychology 2.2 Behavioral Genetics Article Chromosomal Abnormalities About 1 in 150 babies is born with a chromosomal abnormality (1, 2). These are caused by errors in the number or structure of chromosomes.

More information

Birth after Caesarean Choices for delivery

Birth after Caesarean Choices for delivery Birth after Caesarean Choices for delivery page 2 What are my choices for birth after a Caesarean? Currently, approximately 1 in 4 women (25%) in England give birth by Caesarean delivery. Some women have

More information

NHS Cervical Screening Having a colposcopy

NHS Cervical Screening Having a colposcopy NHS Cervical Screening Having a colposcopy What is a colposcopy? 1 Why do I need a colposcopy? 1 What does a colposcopy involve? 2 Colposcopy results 4 Treatment to remove abnormal cells in the cervix

More information

Pregnancy and Substance Abuse

Pregnancy and Substance Abuse Pregnancy and Substance Abuse Introduction When you are pregnant, you are not just "eating for two." You also breathe and drink for two, so it is important to carefully consider what you put into your

More information

An operation for prolapse Colpocleisis

An operation for prolapse Colpocleisis Saint Mary s Hospital Gynaecology Service Warrell Unit An operation for prolapse Colpocleisis Information for Patients What is a prolapse? A prolapse is a bulge or lump in the vagina caused by sagging

More information

Birth defects. Report by the Secretariat

Birth defects. Report by the Secretariat EXECUTIVE BOARD EB126/10 126th Session 3 December 2009 Provisional agenda item 4.7 Birth defects Report by the Secretariat 1. In May 2009 the Executive Board at its 125th session considered an agenda item

More information

pregnant pregnant pregnant pregnant pregnan pregnant ant pregnant pregnant pregnant egnant pregnant pregnant pregnant pregnant pregna

pregnant pregnant pregnant pregnant pregnan pregnant ant pregnant pregnant pregnant egnant pregnant pregnant pregnant pregnant pregna Pregnant and don t know what to do? A guide to your options pregna regnant ant pregnan egnant 2 3 Are you but not sure you want to have the baby? Do you need more information about the options available

More information

Baby Steps To A Healthy Pregnancy

Baby Steps To A Healthy Pregnancy Preconception Middlesex-London Health Unit 50 King Street, London, ON N6A 5L7 519-663-5317 Published 2015. Copyright of the Middlesex London Health Unit. All rights reserved. Baby Steps To A Healthy Pregnancy

More information

Headache after an epidural or spinal injection What you need to know. Patient information Leaflet

Headache after an epidural or spinal injection What you need to know. Patient information Leaflet Headache after an epidural or spinal injection What you need to know Patient information Leaflet April 2015 We have produced this leaflet to give you general information about the headache that may develop

More information

Rhesus Negative 10:Rhesus Negative July 06. rhesus negative. what it means

Rhesus Negative 10:Rhesus Negative July 06. rhesus negative. what it means Rhesus Negative 10:Rhesus Negative July 06 14/04/2010 rhesus negative what it means This leaflet contains important information which may affect your pregnancy. Please read it very carefully. 16:15 P When

More information

Maternity Renal Pelvis Dilation (RPD)

Maternity Renal Pelvis Dilation (RPD) Maternity Renal Pelvis Dilation (RPD) Fetal Medicine Unit Your baby has been found to have more fluid in its kidneys than normal. This leaflet will explain what this means for your baby. First of all,

More information

Out-patient management of medical abortion

Out-patient management of medical abortion Saint Mary s Hospital Gynaecology Service Whitworth Clinic Out-patient management of medical abortion Please attend: 1st stage on at 2nd stage on at Follow up on at 2 Contents page Welcome... 4 First stage...

More information

Marrying a relative. Is there an increased chance that a child will have genetic problems if its parents are related to each other?

Marrying a relative. Is there an increased chance that a child will have genetic problems if its parents are related to each other? Marrying a relative Is there an increased chance that a child will have genetic problems if its parents are related to each other? The simple answer to this question is Yes, there is an increased chance.

More information

Gestational diabetes. Information to help you stay healthy during your pregnancy. What is gestational diabetes?

Gestational diabetes. Information to help you stay healthy during your pregnancy. What is gestational diabetes? Gestational diabetes Information to help you stay healthy during your pregnancy What is gestational diabetes? How gestational diabetes can affect my baby How to take care of myself and my baby during pregnancy

More information

Exceptional People. Exceptional Care. Antenatal Appointment Schedule for Normal Healthy Women with Singleton Pregnancies

Exceptional People. Exceptional Care. Antenatal Appointment Schedule for Normal Healthy Women with Singleton Pregnancies Exceptional People. Exceptional Care. Antenatal Appointment Schedule for Normal Healthy Women with Singleton Pregnancies First Antenatal Contact with the GP Obtain medical and obstetric history. Measure

More information

Cerebral Palsy. In order to function, the brain needs a continuous supply of oxygen.

Cerebral Palsy. In order to function, the brain needs a continuous supply of oxygen. Cerebral Palsy Introduction Cerebral palsy, or CP, can cause serious neurological symptoms in children. Up to 5000 children in the United States are diagnosed with cerebral palsy every year. This reference

More information

Patient & Family Guide Pre-Existing Diabetes and Pregnancy

Patient & Family Guide Pre-Existing Diabetes and Pregnancy Patient & Family Guide Pre-Existing Diabetes and Pregnancy Center for Perinatal Care Meriter Hospital 202 S. Park Street Madison, WI 53715 608.417.6667 meriter.com 09/12/1000 A Meriter Hospital and University

More information

NHS cervical screening Helping you decide

NHS cervical screening Helping you decide NHS cervical screening Helping you decide What is cervical cancer? 2 What causes cervical cancer? 2 What is cervical screening? 3 Cervical screening results 6 What is a colposcopy? 8 What are the benefits

More information

Birth after previous caesarean. What are my choices for birth after a caesarean delivery?

Birth after previous caesarean. What are my choices for birth after a caesarean delivery? Birth after previous caesarean Information for you Published September 2008 What are my choices for birth after a caesarean delivery? More than one in five women (20%) in the UK currently give birth by

More information

UNDERGOING TERMINATION OF PREGNANCY AFTER 12 WEEKS

UNDERGOING TERMINATION OF PREGNANCY AFTER 12 WEEKS UNDERGOING TERMINATION OF PREGNANCY AFTER 12 WEEKS Information Leaflet Your Health. Our Priority. Page 2 of 5 The staff at Stepping Hill Hospital will support you as much as we can during this sad time.

More information

LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES. Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD

LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES. Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD 2 Outline Genetics 101: Basic Concepts and Myth Busting Inheritance Patterns

More information

Cerebral Palsy. 1995-2014, The Patient Education Institute, Inc. www.x-plain.com nr200105 Last reviewed: 06/17/2014 1

Cerebral Palsy. 1995-2014, The Patient Education Institute, Inc. www.x-plain.com nr200105 Last reviewed: 06/17/2014 1 Cerebral Palsy Introduction Cerebral palsy, or CP, can cause serious neurological symptoms in children. Thousands of children are diagnosed with cerebral palsy every year. This reference summary explains

More information

Pregnancy Planning. Eat a nutritious, well-balanced diet

Pregnancy Planning. Eat a nutritious, well-balanced diet Pregnancy Planning Your health and habits affect a baby from the earliest days of a pregnancy. Before you find out for sure that you are pregnant, a great deal has already happened. Your baby's major organs

More information

Blood Transfusion. Red Blood Cells White Blood Cells Platelets

Blood Transfusion. Red Blood Cells White Blood Cells Platelets Blood Transfusion Introduction Blood transfusions are very common. Each year, almost 5 million Americans need a blood transfusion. Blood transfusions are given to replace blood lost during surgery or serious

More information

An operation for prolapse Sacrospinous Fixation Sacrospinous Hysteropexy

An operation for prolapse Sacrospinous Fixation Sacrospinous Hysteropexy Saint Mary s Hospital Gynaecology Service Warrell Unit An operation for prolapse Sacrospinous Fixation Sacrospinous Hysteropexy Information For Patients 1 What is a prolapse? Prolapse is a bulge or lump

More information

Symptoms of Hodgkin lymphoma

Symptoms of Hodgkin lymphoma Produced 28.02.2011 Revision due 28.02.2013 Symptoms of Hodgkin lymphoma Lymphoma is a cancer of cells called lymphocytes. These cells are part of our immune system, which helps us to fight off infections.

More information

Femoral artery bypass graft (Including femoral crossover graft)

Femoral artery bypass graft (Including femoral crossover graft) Femoral artery bypass graft (Including femoral crossover graft) Why do I need the operation? You have a blockage or narrowing of the arteries supplying blood to your leg. This reduces the blood flow to

More information

Birth place decisions

Birth place decisions Birth place decisions Information for women and partners on planning where to give birth Where can I give birth? What birth settings might be suitable for me? Who can I ask for help? Where can I find out

More information

Patient information leaflet for Termination of Pregnancy (TOP) / Abortion

Patient information leaflet for Termination of Pregnancy (TOP) / Abortion Patient information leaflet for Termination of Pregnancy (TOP) / Abortion Families Division Options available If you d like a large print, audio, Braille or a translated version of this leaflet then please

More information

Diabetes and pregnancy - Antenatal care

Diabetes and pregnancy - Antenatal care All of our publications are available in different languages, larger print, braille (English only), audio tape or another format of your choice. Information for you Tha gach sgrìobhainn againn rim faotainn

More information

This information explains the advice about diabetes in pregnancy that is set out in NICE guideline NG3.

This information explains the advice about diabetes in pregnancy that is set out in NICE guideline NG3. Information for the public Published: 25 February 2015 nice.org.uk About this information NICE guidelines provide advice on the care and support that should be offered to people who use health and care

More information

How To Choose Between A Vaginal Birth Or A Cesarean Section

How To Choose Between A Vaginal Birth Or A Cesarean Section Be informed. Know your rights. Protect yourself. Protect your baby. What Every Pregnant Woman Needs to Know About Cesarean Section 2012 Childbirth Connection If you re expecting a baby, there s a good

More information

HPV is very common and usually clears up on its own

HPV is very common and usually clears up on its own What is HPV? All cervical cancers are linked to a very common virus called the human papillomavirus or HPV. HPV usually doesn t cause any harm and most people will be infected with it at some point in

More information

The California Prenatal Screening Program

The California Prenatal Screening Program The California Prenatal Screening Program Quad Marker Screening One blood specimen drawn at 15 weeks - 20 weeks of pregnancy (second trimester) Serum Integrated Screening Prenatal Patient Booklet - English

More information

35-40% of GBS disease occurs in the elderly or in adults with chronic medical conditions.

35-40% of GBS disease occurs in the elderly or in adults with chronic medical conditions. What is Group B Strep (GBS)? Group B Streptococcus (GBS) is a type of bacteria that is found in the lower intestine of 10-35% of all healthy adults and in the vagina and/or lower intestine of 10-35% of

More information

Pregnancy PREGNANCY. Dear (prospective) parents,

Pregnancy PREGNANCY. Dear (prospective) parents, Pregnancy Dear (prospective) parents, You have one of the volumes of The Growth Guide in your hands. The Growth Guide consists of seven practical booklets: Planning for Parenthood Pregnancy Breastfeeding

More information

Support information for women, their partners and families. Early Pregnancy Loss (Miscarriage)

Support information for women, their partners and families. Early Pregnancy Loss (Miscarriage) Support information for women, their partners and families Early Pregnancy Loss (Miscarriage) The experience of early pregnancy loss can bring about a mix of thoughts and feelings. You are welcome to speak

More information

Do I Have Epilepsy? Diagnosing Epilepsy and Seizures. Epilepsy & Seizures: Diagnosis

Do I Have Epilepsy? Diagnosing Epilepsy and Seizures. Epilepsy & Seizures: Diagnosis Epilepsy & Seizures: Diagnosis Do I Have Epilepsy? Diagnosing Epilepsy and Seizures Artwork by Studio E participant Ashley N. (details on inside cover) About the Cover: Cover artwork was created by Ashley

More information

Blood Pressure Management and Your Pregnancy

Blood Pressure Management and Your Pregnancy Patient Education Blood Pressure Management and Your Pregnancy This handout explains: How your blood pressure is checked during pregnancy. What preeclampsia is, including risk factors, treatments, and

More information

Saint Mary s Hospital. Gynaecology Service Warrell Unit. Overactive Bladder. Information for Patients

Saint Mary s Hospital. Gynaecology Service Warrell Unit. Overactive Bladder. Information for Patients Saint Mary s Hospital Gynaecology Service Warrell Unit Overactive Bladder Information for Patients What is Overactive Bladder (OAB)? OAB is a condition that causes you to need to pass urine more often

More information

What Every Pregnant Woman Needs to Know About Cesarean Section. Be informed. Know your rights. Protect yourself. Protect your baby.

What Every Pregnant Woman Needs to Know About Cesarean Section. Be informed. Know your rights. Protect yourself. Protect your baby. Be informed. Know your rights. Protect yourself. Protect your baby. What Every Pregnant Woman Needs to Know About Cesarean Section 2012 Childbirth Connection If you re expecting a baby, there s a good

More information

Rubella. Questions and answers

Rubella. Questions and answers Rubella Questions and answers What is rubella? Rubella, or German measles, is a mild disease caused by a virus. Before the MMR (measles, mumps and rubella) vaccine was used, rubella used to be common in

More information

Gestational Diabetes Mellitus (GDM)

Gestational Diabetes Mellitus (GDM) Gestational Diabetes Mellitus (GDM) Tena koutou katoa, Kia orana, Talofa lava, Malo e lelei, Fakaalofa lahi atu, Taloha Ni, Ni Sa Bula Vinaka, Greetings and Welcome to National Women's Gestational Diabetes

More information

An operation for prolapse Laparoscopic Sacrohysteropexy

An operation for prolapse Laparoscopic Sacrohysteropexy Saint Mary s Hospital Gynaecology Service Warrell Unit An operation for prolapse Laparoscopic Sacrohysteropexy Information for Patients What is a prolapse? Uterine prolapse is a bulge or lump in the vagina

More information

MANAGING ANEMIA. When You Have Kidney Disease or Kidney Failure. www.kidney.org

MANAGING ANEMIA. When You Have Kidney Disease or Kidney Failure. www.kidney.org MANAGING ANEMIA When You Have Kidney Disease or Kidney Failure www.kidney.org About the Information in this Booklet Did you know that the National Kidney Foundation (NKF) offers guidelines and commentaries

More information

Grow Guide for Parents - A Review

Grow Guide for Parents - A Review Planning for Parenthood Dear potential parents, This booklet is the first volume of the Growth Guide. This Growth Guide for potential parents is specifically geared towards those who want to get pregnant

More information

The flu vaccination WINTER 2016/17. Who should have it and why. Flu mmunisation 2016/17

The flu vaccination WINTER 2016/17. Who should have it and why. Flu mmunisation 2016/17 The flu vaccination WINTER 2016/17 Who should have it and why Flu mmunisation 2016/17 The flu vaccination 1 Winter 2016/17 Helping to protect everyone, every winter This leaflet explains how you can help

More information

Why is prematurity a concern?

Why is prematurity a concern? Prematurity What is prematurity? A baby born before 37 weeks of pregnancy is considered premature. Approximately 12% of all babies are born prematurely. Terms that refer to premature babies are preterm

More information

Polycystic ovary syndrome: what it means for your long-term health

Polycystic ovary syndrome: what it means for your long-term health Polycystic ovary syndrome: what it means for your long-term health Information for you Published in February 2005, minor amendments in June 2005 Revised 2009 What is polycystic ovary syndrome? Polycystic

More information

Why does my child have a hearing loss?

Why does my child have a hearing loss? Introduction This factsheet will tell you about the range of tests that can be carried out to try to find the cause of your child s hearing loss. The process to find out why a child is deaf is sometimes

More information

swine flu vaccination:

swine flu vaccination: swine flu vaccination: what you need to know Flu. Protect yourself and others. Contents What is swine flu?............... 3 About the swine flu vaccine....... 4 What else do I need to know?...... 8 What

More information

Information about hepatitis C for patients and carers

Information about hepatitis C for patients and carers Information about hepatitis C for patients and carers What is hepatitis C? Hepatitis C is an illness caused by a virus which can be passed through blood from one person to another. It mainly affects the

More information

What is Thalassemia Trait?

What is Thalassemia Trait? What is Thalassemia Trait? Introduction Being tested for the thalassemia trait is easy This book contains basic information about the thalassemia trait. Whether you have been diagnosed with the thalassemia

More information

RhD Negative and care in pregnancy

RhD Negative and care in pregnancy RhD Negative and care in pregnancy Exceptional healthcare, personally delivered RhD Negative and care in pregnancy What does RhD Negative mean? n The rhesus factor is found on the red blood cells. People

More information

Problems in Early Pregnancy

Problems in Early Pregnancy Problems in Early Pregnancy Exceptional healthcare, personally delivered This information answers queries about issues that may arise in early pregnancy. Not all of these issues will apply to you. It provides

More information

Optional Tests Offered Before and During Pregnancy

Optional Tests Offered Before and During Pregnancy Plano Women s Healthcare Optional Tests Offered Before and During Pregnancy Alpha-Fetoprotein Test (AFP) and Quad Screen These are screening tests that can assess your baby s risk of having such birth

More information

Stress Urinary Incontinence

Stress Urinary Incontinence Saint Mary s Hospital Gynaecology Service Warrell Unit Stress Urinary Incontinence Information for patients What is Stress Incontinence? Stress incontinence is a leakage of urine occurring on physical

More information

Department of Neurosciences Dorsal Root Ganglion (DRG) Stimulation Information for patients

Department of Neurosciences Dorsal Root Ganglion (DRG) Stimulation Information for patients Oxford University Hospitals NHS Trust Department of Neurosciences Dorsal Root Ganglion (DRG) Stimulation Information for patients We have recently seen you in clinic as you have had pain for a long period

More information

Patient Guide. Important information for patients starting therapy with LEMTRADA (alemtuzumab)

Patient Guide. Important information for patients starting therapy with LEMTRADA (alemtuzumab) Patient Guide Important information for patients starting therapy with LEMTRADA (alemtuzumab) This medicinal product is subject to additional monitoring. This will allow quick identification of new safety

More information

BRCA Genes and Inherited Breast and Ovarian Cancer. Patient information leaflet

BRCA Genes and Inherited Breast and Ovarian Cancer. Patient information leaflet BRCA Genes and Inherited Breast and Ovarian Cancer Patient information leaflet This booklet has been written for people who have a personal or family history of breast and/or ovarian cancer that could

More information