WELCOME TO COLLEGE HEIGHTS OBGYN ASSOCIATES and Congratulations on Your Pregnancy!

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1 Our passion is to partner with women through the continuum of life by providing premier medical and surgical care that is patientcentered, high quality and comprehensive in an academic setting. WELCOME TO COLLEGE HEIGHTS OBGYN ASSOCIATES and Congratulations on Your Pregnancy! We are looking forward to getting to know you and caring for you and your baby these next several months. Please take the time to review all enclosures. They provide valuable information and explain the blood work you will require. There are also several forms that should be completed prior to your first visit. Your first visit is an important one and we encourage you to bring your spouse or partner. First, you will meet with the nurse who will review your medical history and provide you with further information regarding all aspects of your pregnancy care. At your fist visit with a medical provider you will have an ultrasound and physical exam. The providers will be able to review and discuss all of your concerns during that visit. Please arrive 15 minutes prior to your appointment and be certain to bring your insurance card and co-payment, a photo ID, a list of your current medications including strength and dosage, and any required referral forms. In an effort to better serve our patients, our office has implemented an electronic medical record (EMR). This new system will make it easy for us to share information with you and members of your care team. Most importantly, this system will allow us to provide a safer, more efficient healthcare experience for you. Additionally, our office can accommodate those patients who utilize for scheduling appointments, prescription refills, or non-urgent medical questions. Please visit our website at for additional information regarding our practice and providers. Sincerely, The Patient Care Team of College Heights OBGYN Associates 1245 S Cedar Crest Blvd STE 201 Allentown, PA Normal Avenue STE 202 Kutztown, PA Valley Center Pkwy STE 130 Bethlehem, PA Health Center at Trexlertown 6900 Hamilton Blvd Trexlertown, PA Revised:

2 WHAT TO EXPECT DURING YOUR FIRST VISIT AND OUTLINE OF YOUR PRENATAL CARE At your initial obstetrical visit, you will meet with one of our obstetrical nurses who will take your medical history and review pertinent pregnancy information. This will take approximately one hour. You also will be given a laboratory slip for initial prenatal blood work. These tests include: Complete Blood Count to check for low iron or anemia. RPR to screen for syphilis. Rubella to check for immunity to German measles. Hepatitis to screen for hepatitis B. HIV test The American College of OBGYN recommends HIV screening for all pregnant women. Blood type and Rh screen to determine the mother s blood type. If a woman is Rh negative, she will need RhoGAM (an injection) during the pregnancy to prevent Rh incompatibility. Antibody Screen to screen for other blood incompatibilities. Other tests may be ordered depending on medical and family history. (I.e. blood glucose screening, thyroid function testing, EKG, etc). At the following visit, you will meet with one of our providers who will review your history, answer any questions, and do a complete physical exam including a Pap smear and cervical cultures. WHAT YOU CAN EXPECT DURING YOUR PRENATAL CARE COURSE Initially, you will be seen every four weeks. At 32 weeks, your visits will be every two weeks until 36 weeks, at which time you will come every week. Other highlights include the following: Initial visit outlined above week visit ultrasound to confirm your due date weeks First part of sequential screen to be performed at Maternal Fetal Medicine 16 week visit Second part of sequential screen to be performed at Maternal Fetal Medicine week visit Level II ultrasound. 28 week visit lab work to evaluate blood count and screen for gestational diabetes, delivery consents and hospital registration. 36 week visit vaginal culture to check for a bacteria called Group B Streptococcus (GBS). Of course, your visit frequency, lab work and followup will depend on any problems that may be encountered in the pregnancy. Revised:

3 FAMILY AND MEDICAL HISTORY QUESTIONNAIRE Name: Appt. Date / / DOB: / / MR# Appt. Time: Please bring this form with you to your appointment. Yes No Comments: 1. Are you 34 years or older? 2. Is the father of your baby 55 years or older? 3. Are you and the father of your baby blood relatives? 4. Have you had a stillborn or more than one miscarriage? 5. Do you have diabetes? Are you insulin dependent? 6. Do you have seizures or epilepsy? 7. Do you have any other medical conditions for which you receive treatment? 8. What countries are your ancestors from originally? (Be specific, i.e., England, Africa, Vietnam) Myself: Father of baby: 9. Are either of you Jewish, French Canadian or Cajun? 10. Have you had the Expanded AFP Blood test? If so, when? Do you or the father of your baby: 11. Have any birth defects, handicapping condition or disorder that might be hereditary? 12. Have any previous children with birth defects, handicaps, or genetic disease? 13. Have any children who died (other than accidental?) 14. Have a brother, sister or parent with a handicap, birth defect or genetic disease? 15. Have any uncles, aunts, cousins, grandparents, nephews or nieces with birth defects or genetic diseases? 16. Know of any family member with mental retardation (even mild) or learning disabilities? 17. Have any family members who have had multiple miscarriages or a stillbirth? Family and Medical History Questionnaire - Page 1 of 2

4 FAMILY AND MEDICAL HISTORY QUESTIONNAIRE Please check any of the following that might be in either of your families and indicate who in the family is affected. Anencephaly (open skull) Kidney disease (i.e., polycystic kidney) Anemia Limb defects Blindness Mental illness Cancer Mental Retardation Chromosome abnormality Muscular dystrophy/myotonic Dystrophy Cleft lip/palate Neurofibromatosis Cystic fibrosis Neurologic or degenerative disorder Deafness Phenylketonuria (PKU) Down Syndrome Sickle cell anemia Epilepsy or seizures Skeletal problems (like easily broken bones, dwarfism) Heart defect Skin diseases (including dark or light patches of skin) Hemophilia (bleeding tendency) Spina bifida (open spine) Huntington s Chorea Thalassemia (Mediterranean anemia) Hydrocephalus (water on the brain) Urinary tract disease Birth defects or inherited disorders not listed above: None of the above: Environmental Exposure History Yes No Have you Taken any prescription drugs or over the counter medications since becoming pregnant? Circle any that apply: Accutane, Epilepsy medication, Lithium, Blood thinner (anti-clotting) Other: Had an illness or infection during pregnancy? Had a fever over 101 degrees or taken saunas or whirlpool baths during pregnancy? Had x-rays or surgery since becoming pregnant? Had alcohol during your pregnancy? Smoked during your pregnancy? Used any other drugs during your pregnancy? Anything else not mentioned above or any comments you would like to make about your answers to any of the questions on this form? 3/01 Adapted From: Table 2-1 Maternal Fetal Medical Saunders 4 th Edition 1999 University of California, San Diego, Department of Medical Genetics, Center for Fetal Diagnosis and Treatment Revised: Family and Medical History Questionnaire - Page 2 of 2

5 PRENATAL GENETIC TESTING The chance of having a baby with a birth defect or chromosomal abnormality can be related to one s family history, environmental exposures and the mother s age. Often, however, a specific underlying factor cannot be found. During pregnancy, there are a few tests available to screen and diagnose some of these abnormalities. There are many abnormalities, however, which cannot be diagnosed prenatally. It is important to understand the difference between a screening test and a diagnostic test. A screening test is done to look for the presence or absence of a given condition in apparently normal individuals. The results of a screening test, however, may or may not mean that the individual or baby is affected. In other words, a screening test may be falsely positive meaning it comes back abnormal when the individual is actually normal or, it may be falsely negative meaning the test result is normal when the individual is actually abnormal. A diagnostic test, on the other hand, produces direct data that is virtually 100% accurate. Described below are the most common conditions for which testing (both diagnostic and screening) is available during pregnancy: 1. Neural Tube Defect. Malformation that affects the spinal column or brain of the baby. Approximately 1 or 2 out of 1,000 babies are born with this defect. The two main types of neural tube defects are anencephaly and spina bifida. Screening for this is done via maternal blood sampling for alpha fetoprotein, or AFP in the second trimester. 2. Down Syndrome (Trisomy 21). A condition in which the baby has extra genetic material (that is, one extra copy of chromosome number 21). Babies born with Down syndrome have a distinctive physical appearance, mental retardation, poor muscle tone and a higher frequency of heart defects. On average, 1 out of 800 babies are born with Down syndrome. The risk of having a baby with Down syndrome increases as the mother s age increases. Diagnostic studies for this include the CVS or amniocentesis. Screening studies for this include all those described below. 3. Trisomy 18. Another condition in which the baby has extra genetic material (one extra copy of chromosome number 18). Like Down syndrome, the risk is greater in women age 35 or older and it is a condition with similar outcomes as in Down syndrome. Trisomy 18 occurs in only 1 out of 8,000 births and approximately 80% of these infants die within the first year of life. Diagnostic studies for this include CVS or amniocentesis. Screening studies include those described below. On the next pages is a summary of the prenatal/genetic options which are currently available for our patients. These will be discussed and reviewed with you at your first prenatal visit. It is also important to understand that certain tests may be offered to you because of your family history or your age. If there is a specific disorder for which there is genetic testing or if your age is 35 years or more, a diagnostic test will be offered because of the increased likelihood of finding an abnormality. Page 1 of 3

6 Prenatal Genetic Testing Page 2 of 3 DIAGNOSTIC TESTS FIRST TRIMESTER CVS: This diagnostic test stands for chronic villus sampling. It is a procedure that is done between weeks of pregnancy. A sample of placental tissue is removed through the abdomen or vagina. The retrieved tissue is then grown up in the laboratory and specific genetic and chromosomal abnormalities are looked for. The pregnancy loss rate or miscarriage rate is about 1:100 procedures. Other possible complications include rupture of membranes, bleeding and infection. The results of this test take about days SECOND TRIMESTER Amniocentesis: This diagnostic procedure is performed between weeks of pregnancy. It involves withdrawing some of the amniotic fluid from around the baby within the maternal abdomen. Sloughed off fetal cells within the fluid are then grown up in the laboratory and specific genetic and chromosomal abnormalities are looked for. The pregnancy loss rate, or miscarriage rate is about 1:200 procedures. Other possible complications include rupture of membranes, bleeding, infection, needle marks on the baby s skin. The results of this test take about days. SCREENING TESTS FIRST TRIMESTER and SECOND TRIMESTER Sequential Test: This is a two part test. Part One: Between weeks 11 and 13, a small amount of blood is drawn from mom; and an ultrasound measurement of the nuchal fold, an area in the neck which can accumulate fluid in abnormal fetuses, is taken. The information from this test provides you with your risk of having a baby with Down syndrome and Trisomy 18. If this test shows an increased risk, you will be offered a diagnostic study (CVS-chorionic villus sampling) to confirm the results of the initial screening test. **This test alone detects approximately 70% of babies with Down syndrome and 80% of babies with Trisomy 18. Part Two: If part one deems you as low risk you will have additional blood work between 15 and 22 weeks. These results will be combined with the part one screening information to give a final risk assessment. This will have screening information regarding Down syndrome, trisomy 18 and open neural tube defects. If this final screen shows an elevated risk, then you will be offered a diagnostic study (amniocentesis) to confirm the results. **This test detects approximately 90% of babies with Down syndrome, 90% of babies with trisomy 18 and 80% of babies with open neural tube defects. **If your part-one screen is positive and you go on to have a diagnostic test performed in the first trimester, a blood test will be recommended in the second trimester called the AFP test which screens for neural tube defects -- part one of the sequential screen alone does not estimate the risk for this finding. We understand that the choice for this testing is confusing and sometimes frustrating. Please give some thought to the above options before your initial visit. We are happy to discuss them further, answer your questions and provide any additional information to ease the decision making process. ********************************************

7 Prenatal Genetic Testing Page 3 of 3 Screening Parameters Genzyme Genetics Comprehensive Maternal Serum Screening Program Providing a range of prenatal screening options Sequential Screen Part one Sequential Screen Parts One and Two Down syndrome detection rate 70% 90% False positive rate 5% 3.7% Trisomy 18 detection rate 80% 90% Biochemical markers PAPP-A hcg PAPP-A AFP hcg ue3 Inhibin NT (nuchal fold) NT NT Timing 1 st Trimester 1 st and 2 nd Trimester Neural tube detection rate *** 80% Detection rates are based on statistical results of large multi-center prospective studies. See, e.g., SURUSS J Med Screen : Revised:

8 PRENATAL GENETIC DIAGNOSIS The chance of having a birth defective or abnormal baby can relate to the mother's age. Some babies have abnormalities of chromosomes that result in various diseases, the most common of which is Down's syndrome. Children with Down's syndrome can have a wide spectrum of problems including heart defects, bowel abnormalities, mental retardation as well as the characteristic physical appearance of the mongoloid face. In addition to Down's syndrome, there are other chromosome problems that can affect your baby, although these are generally more rare than Down's syndrome. The chance of having a baby with chromosome abnormalities, especially Down's syndrome increases with the mother's age according to the following chart: Mother's Age Down's Syndrome Any Chromosomal Disease 20 1/1,667 1/ /1,667 1/ /1,429 1/ /1,429 1/ /1,250 1/ /1,250 1/ /1,176 1/ /1,111 1/ /1,053 1/ /1,000 1/ /952 1/ /909 1/ /769 1/ /602 1/ /485 1/ /378 1/ /289 1/ /224 1/ /173 1/ /136 1/ /106 1/ /82 1/ /63 1/ /49 1/ /38 1/ /30 1/ /23 1/ /18 1/ /14 1/ /11 1/8 Revised:

9 CYSTIC FIBROSIS INFORMED CONSENT / REFUSAL Genetic Carrier Testing Cystic fibrosis (CF) is a genetic disease that causes thick, sticky mucus to build up in the lungs and digestive system and other organs of the body. This mucus leads to chronic lung infections and difficulty digesting food and nutrients. The treatment of CF depends upon the severity of symptoms and the organs involved. Using genetic information, tests can be offered to determine if a person might have a child that may have certain diseases or healthcare needs, such as cystic fibrosis (CF). A genetic test is most often given to expectant parents. It can be used to confirm a diagnosis of CF, but the test to diagnose CF is the sweat test. For someone to have the disease, two copies of the defective CF gene must be inherited one from each parent. A carrier has only one copy of the CF gene mutation and, thus, does not have the disease or symptoms. Genetic carrier testing can be used to tell if a person carries one or more mutations of the CF gene and how many copies of each mutation. The test looks at a person s DNA (genetic material) which is taken from cells in a blood sample or from cells that are gently scraped from inside the mouth. Although only about one of every 3,000 Caucasian newborns has CF, there are more than 1,000 known mutations of the gene that causes CF. Current tests look for the most common mutations. The mutations screened by the test vary according to a person s race or ethnic group, or by the occurrence of CF already in the family. More than 10 million Americans, including one in 29 Caucasian Americans, are carriers of one mutation of the CF gene. In other races or ethnicities, one in 46 Hispanic Americans, one in 65 African Americans, and one in 90 Asian Americans carry a mutation of the CF gene. If you have a relative with CF or who is known to carry a mutation of the CF gene, your chances of carrying a mutation are greater because of your family s history. If you are pregnant or planning to have a child, you should discuss this test and the results with a health professional who is knowledgeable about genetic testing, such as a genetic counselor. Genetic Carrier Testing: More than 10 million Americans who are without symptoms are carriers of the defective CF gene. This test can help detect carriers who could pass CF onto their children. To have cystic fibrosis, a child must inherit one copy of the defective CF gene from each parent. Each time two carriers of the CF gene have a child, the chances are: 25% the child with have CF 50% the child will carry the CF gene but not have CF 25% the child will not carry the gene and not have CF. I understand that carrier tests can only determine if a person might have a child that may have cystic fibrosis; the tests cannot guarantee that a child will or will not have this disease. I have read the above information and I understand that I can be tested for CF or that both parents may be tested. I further understand that if I am a carrier and the other parent is not, there is still a possibility that the newborn may have CF. If both parents are carriers, additional testing can be done. I further understand that I can withdraw this consent prior to the test being performed. I have had the opportunity to ask questions, and all of my questions have been answered. I want Cystic Fibrosis Screening I do not want Cystic Fibrosis Screening Patient Signature Witness Date Copied: