Section II Preparing for your IVF Cycle

Transcription

1 Section II Preparing for your IVF Cycle We are pleased that you have chosen us to participate in your fertility care. Our goal is to make your treatment cycle for IVF as easy as possible. If you follow these instructions, we will be able to help you plan your IVF cycle and answer all your questions. You will have an individual appointment with the nurse prior to the initiation of injections. Please bring your IVF folder with completed consents to all appointments. Our office is open seven days a week, Monday through Friday we are here from 08:00 AM to 4:30 PM. On Saturday, Sunday and Holidays we are here from 08:00 AM to 11:00 AM. We are closed Christmas Day and New Year s Day. Please feel free to call anytime during our office hours. If you get our voic , please leave a detailed message along with your full name (spelling where applicable), date of birth, and phone number, so that we can return your call promptly; all messages will be returned within 24 hours. If calling after 11:00 AM on weekends please be sure to leave a detailed message, and we will return your call the next day. If urgent, your call will be returned the same day, all other calls will be returned the next morning. All patients must have an identified voice mail in order for us to leave messages. To contact the IVF nurses, please call To contact the IVF nurses, please call Our nurses in the IVF clinic are Gail Moore Larson, Janine Bawden, Denise Fournier, Heidi Carver, Danielle Moore, and Lee Cherie Booth. The doctors practicing in the clinic are C. Matthew Peterson, M.D., Ahmad Hammoud, M.D., Erica Johnston, M.D., and Andrew Moore, M.D. All our nurses and providers work together to ensure that all our patients have exceptional experiences here. If you have any procedures that need to be completed prior to the start of your IVF cycle, please call the physicians secretary at , and select option 1 and 1 again for scheduling. Once your IVF checklist is complete and you are ready to start your IVF cycle, please call with the start of your period for individualized dates and instructions. It is approximately a 6 week process from the start of your period to the egg retrieval. If you have insurance coverage for fertility and/or medications, you are responsible for contacting your insurance company and letting us know so that a prior authorization may be submitted, if required. Our billing team is happy to help with this and can be reached at This must be initiated prior to the start of your IVF cycle. ~ 7 ~

2 THINGS TO THINK ABOUT WHEN YOU RE THINKING ABOUT PREGNANCY There are many important steps that a couple needs to take when preparing to conceive a child. It is very important that both partners are ready both physically and emotionally for this life-enhancing event. Consider preparing for pregnancy as if training for a great race. This race requires both good health and prerace planning. There is no question that the state of health in which a pregnancy is established goes far in maximizing your baby's health. Listed below are some basic guidelines to consider. MEDICAL PROBLEMS/MEDICATIONS: Make sure your physician is aware of any chronic medical conditions and medication use as well as supplements. TOBACCO/CAFFEINE/ALCOHOL: Multiple studies have shown a strong link between smoking (any form of tobacco use) and male/female infertility. PLEASE limit or stop smoking. Studies on caffeine and alcohol use are not so clear, but excessive use should be avoided. A recent study showed caffeine intake in excess of 250 mg/day may be linked to miscarriage. EXERCISE/WEIGHT: Maintain a regular physical activity that concentrates on flexibility and mobility rather than endurance. Walking is excellent. If you are overweight, even modest weight loss can improve fertility and pregnancy outcomes. VITAMINS/FOLIC ACID: At least one month prior to conception, it is recommended that you take an additional 400 micrograms of folic acid daily. Adding this to a good quality standard multivitamin, even a chewable preparation, will likely meet your needs and avoid side effects. A typical prenatal vitamin once daily is another option. RUBELLA/CHICKEN POX: If you have never had or been immunized against either of these diseases it is strongly suggested that you should be immunized. Present guidelines are to wait one month after receiving these vaccines before attempting pregnancy. AIDS/HEPATITIS: In keeping with national guidelines, testing for human immunodeficiency virus (HIV) and hepatitis B/C is recommended unless there is documented evidence of immunity or written refusal. PAP: We follow the most current guidelines for cervical screening. If you are not current in your pap testing, please let us know. MAMMOGRAM: A baseline screening mammogram is recommended in all women at age 35 and yearly after age 40. FLU VACCINE: For those patients at higher risk, influenza vaccine is recommended prior to the start of the flu season and is also recommended for pregnant women. TUBERCULOSIS SKIN TESTING: Testing should be considered if you are high risk regarding exposure to TB. This can be decided on an individual basis. GENETIC SCREENING: Based on your family history and ethnicity, we can identify certain diseases for which you may be at risk of being a carrier. Please see additional information on the next page. LIVE HAPPY AND HEALTHY: Stress is a normal part of life, but can be significantly magnified by fertility problems. Counseling is often recommended for those suffering from difficulties with stress. For most, the chances for pregnancy with fertility treatments are very good. We feel that it is important to your health and that of your future baby that you have received and read this information. Please feel free to address any questions you might have by (fertilitydr@hsc.utah.edu), phone ( ), or at your next appointment. ~ 8 ~

3 In Vitro Fertilization at UCRM A step-by-step process to complete IVF Step 1 - Consultation Appointment and Informational Session The first step is to contact the Utah Center for Reproductive Medicine (UCRM) and schedule and IVF consultation with one of our physicians. A UCRM physician will thoroughly review your medical records and ensure that IVF is appropriate. An individualized treatment plan is developed that includes orders for pre-cycle testing. As part of your consultation, you and your physician will review the consents for your IVF cycle. It is important that you and your partner are aware of the possible risks associated with IVF and understand the procedures involved. Your treatment consents will be signed at this time. Please note: a staff member must witness both signatures on the consent forms. An ultrasound may also be performed during this appointment. Your will also meet with one of our expert fertility nurses, who will be in contact with you throughout your cycle. At this appointment the nurse will give you a general description of an IVF cycle and review the screening process as well as a time frame for completion. Our fertility nurses understand the complex and delicate nature of this treatment as a means to starting a family. You will be given a list of items to complete prior to starting your cycle. It is your responsibility to make sure all testing on your checklist are completed. We are happy to assist you in scheduling these. If you have any questions, please contact an IVF nurse at Step 2 Set Up and Injection Teaching The nurses develop a calendar for the steps of your cycle. The calendar is created to outline your individual stimulation protocol developed by your physician and includes a schedule of medications and appointments for your IVF cycle. During your cycle, your primary physician will coordinate your cycle, however our staff physicians all work together as a team, and they may be the physicians performing your ultrasounds, egg retrieval, and embryo transfer, as outlined by your primary physician. Our physicians are assisted by fellows who may perform your ultrasounds and participate in your treatment. A nurse will be available at any point during the cycle to answer questions related to your calendar. We want to provide you with the best chance for success and part of this process is injection training. During the injection class you will participate in hands on demonstration for injection technique. IVF or superovulation involves the administration of several medications and hormones to encourage the growth of multiple eggs. Combinations of these medications are chosen specifically for each patient based on their reproductive history, examination and test results. As a result, no two patients will receive exactly the same medications. In addition, no two women will respond identically. Common Medications used during an IVF cycle: ~ 9 ~

4 Birth Control Pills: While it may seem strange to take birth control pills to achieve a pregnancy, we have learned that many women have a better response to the medications and hormones if they take two weeks or more of birth control pills in the weeks before the beginning of their IVF cycle. The birth control pills synchronize the immature eggs so they will respond in a relatively similar fashion, thus increasing the number of mature eggs that can be retrieved from the ovaries. However, a small percentage of women (10-25%) may experience side effects from the birth control pills (e.g. headache, bloating, depression and abnormal uterine bleeding). Leuprolide Acetate (Lupron): While it is important to stimulate several eggs to mature, it is equally important to prevent the release, or ovulation, of the eggs prior to the egg retrieval. Leuprolide Acetate is administered to prevent ovulation and to increase the number of eggs that are retrieved from the ovaries. This medication is typically administered as an injection just beneath the skin of the abdomen or thigh. Side effects may include hot flashes, headache, mood swings, vaginal dryness, bone loss and painful intercourse in fewer than 10% of women. Gonadotropins (Gonal F, Follistim, Bravelle, Repronex and Menopur): These are highly purified preparations of FSH or LH or both and are also administered as a series of subcutaneous injections in the lower abdomen. The gonadotropins stimulate the growth and maturation of the eggs. Side effects include ovarian discomfort, abdominal bloating, ovarian cysts and multiple pregnancies in 10-50% of women. Human Chorionic Gonadotropin (Ovidrel and Novarel): A highly purified preparation of human chorionic gonadotropin is administered as either a subcutaneous or an intramuscular injection. The most common reason to administer hcg is to mature the eggs so they will be ready for fertilization. Side effects that may occur in less than 10% of women include headaches irritability, restlessness, depression, fatigue and abdominal bloating. NOTE: After receiving this medication you will have a false positive pregnancy test for the approximately days. Do not be misled by the results of a home pregnancy test, it may produce a positive pregnancy test even in the absence of a pregnancy. Doxycycline (Vibramycin): This is an orally administered antibiotic that is given to both the patient and the male partner at differing times during the cycle. It is prescribed to men to reduce the low levels of bacteria that may be found in the semen (even in men without symptoms), because the bacteria may compromise the performance of the sperm at the time of insemination. It is given to the female partner to reduce the risk of a pelvic or ovarian infection following retrieval of the eggs. Progesterone [Progesterone in oil, gel, suppositories and capsules] (Prometrium): Progesterone is a hormone that is produced by the ovaries and prepares and maintains the lining of the uterus during early pregnancy. It is administered as a daily intramuscular injection beginning the day of egg retrieval and, if you get pregnant, is continued until the placenta is making large amounts of progesterone. However, if you are not pregnant, you will be instructed to stop your progesterone injections on the day of your negative pregnancy test. Side effect may include dizziness, headache, drowsiness, breast tenderness, uterine cramping or mild mood changes in <10% of women. ~ 10 ~

5 Step 3 Stimulation and Monitoring Before you start medications to stimulate the production of eggs, you will have an appointment to measure your uterine lining and check your ovaries for any possible follicles or cysts. If the ultrasound is normal, a nurse will review your individual calendar, and confirm the day to start medications to stimulate egg development with additional instructions. As your IVF cycle proceeds, you will have morning appointments starting day 8 of FSH injections which may include blood work. Further ultrasounds and blood tests are ordered as needed each day and may require changes in your medication dosage. You will need to be available by phone during your IVF cycle as a nurse may need to contact you with important information related to your medications and necessary appointments. It is best we be able to reach you directly, or at least be sure that you have an identifiable voice mail. Step 4 Egg Retrieval, Fertilization and Development of the Embryos Once you are ready for egg retrieval as determined by your physician, you will be given another medication (HCG) exactly 36 hours prior to the egg retrieval. This medication will bring the eggs to final maturity. The sonographic egg retrieval involves the use of an ultrasound guided needle to gently remove the eggs from the ovaries. You will receive IV sedation during the procedure and should experience little or no discomfort. Your partner s sperm is collected on the day of egg retrieval for fertilization of the eggs. After the egg retrieval, the embryologist prepares the eggs in the laboratory with sperm. You will receive a preliminary report regarding the number of eggs retrieved by the physician prior to leaving the center that day. Two days after your egg retrieval, an embryologist will call you with the number and quality of the embryos that have started to develop. Step 5 Embryo Transfer The embryo transfer will take place 3-5 days after your egg retrieval. On the day of your embryo transfer, your physician will discuss the final embryology report and provide recommendation on the quality of the embryo(s) available for transfer. The embryo(s) are transferred through the cervix into the uterus via a small catheter. It is recommended you have 2-3 days of bed rest after your transfer. If there are good quality embryos remaining for cryopreservation, the option will be reviewed with you at the time of the embryo transfer. Step 6 Pregnancy Test Seventeen days after the egg retrieval, you will return to UCRM for a blood pregnancy test (quantitative HCG). If pregnant, you will schedule a viability ultrasound between 6 1/2 and 7 1/2 weeks of pregnancy. Please call us to schedule this ultrasound (this is not included in the general IVF fee). In general, it is important to contact your OB to set up your first prenatal visit. It will be necessary for you to continue hormone therapy until 10 weeks of pregnancy. ~ 11 ~

6 Guidelines on number of embryos transferred High-order multiple pregnancy (three or more implanted embryos) is an undesirable consequence (outcome) of the assisted reproductive technologies (ART). Multiple gestations lead to an increased risk of complications in both the fetuses and the mothers. In an effort to reduce the incidence of high-order multiple gestations, the American Society for Reproductive Medicine (ASRM) and the Society for Assisted Reproductive Technology (SART) have developed the following guidelines to assist Infertility programs and patients in determining the appropriate number of cleavage-stage embryos (usually 2 or 3 days after fertilization) or blastocysts (usually 5 or 6 days after fertilization) to transfer. These guidelines may be modified, according to individual clinical conditions, including patient age, embryo quality, the opportunity for cryopreservation, and as clinical experience with newer techniques accumulates. Independent of age, the following characteristics have been associated with a more favorable prognosis (likely to achieve a live birth): 1) First cycle of in vitro fertilization (IVF). 2) Good quality embryos as judged by morphologic criteria. 3) Excess of embryos of sufficient quality to warrant cryopreservation. 4) Previous successful IVF cycle Based on data generated by all clinics providing infertility services, the following guidelines are recommended: A. For patients under the age of 35 who have a more favorable prognosis, consideration should be given to transferring only a single embryo. All others in this age group should have no more than 2 embryos (cleavage-stage or blastocyst) transferred in the absence of extraordinary circumstances. B. For patients between 35 and 37 years of age who have a more favorable prognosis, no more than 2 cleavage-stage embryos should be transferred. All others in this age group should have no more than 3 cleavage-stage embryos transferred. If extended culture is performed, no more than 2 blastocysts should be transferred to women in this age group. C. For patients between 38 and 40 years of age who have a more favorable prognosis, no more than 3 cleavage-stage embryos or more than 2 blastocysts should be transferred. All others in this age group should have no more than 4 cleavage-stage embryos or 3 blastocysts transferred. D. For patients greater than 40 years of age, no more than 5 cleavage-stage embryos or 3 blastocyst embryos should be transferred. E. For patients with 2 or more previous failed IVF cycles or a less favorable prognosis, additional embryos may be transferred according to individual circumstances after appropriate consultation with the doctor. F. In donor egg cycles, the age of the donor should be used to determine the appropriate number of embryos. References Based on data from the most current published CDC/ASRM/SART yearly report, guidelines for the number of embryos to be transferred in IVF cycles have been further refined. (Fertility and Sterility 2013;99-1: by American Society for Reproductive Medicine) ~ 12 ~

7 AMERICAN SOCIETY FOR REPRODUCTIVE MEDICINE 1209 Montgomery Highway Birmingham, Alabama TEL (205) FAX (205) URL PATIENTS S FACT SHEET Genetic Screening for Birth Defects Birth defects, which occur in nearly one in 20 pregnancies, range in severity from minor anatomic abnormalities to extensive genetic disorders or mental retardation. Some couples have a greater than average risk of having a child with a birth defect. Genetic screening refers to the use of specific tests to determine which members of a population are at increased risk for an inherited condition. Genetic testing, in contrast, is the use of specific tests to characterize the genetic status of an individual who is suspected to be at increased risk for an inherited disease. These terms are frequently used interchangeably. Genetic screening may help identify couples who have an increased risk of agerelated or familial genetic disorders and birth defects. No single test, however, can accurately predict the risk of all defects in a child, and many birth defects, such as those related to environmental and toxic exposures and those that are random and unexplained, are not genetically based and may not be detected with genetic screening. Screening for genetic diseases that may affect offspring depends upon the racial or ethnic background of the couple, their family and medical history, and associated conditions. Various racial and ethnic groups demonstrate an increased prevalence of specific diseases, and couples of these backgrounds may have their carrier status screened accordingly, as described below. Most couples have their carrier status checked if there is a family history of the disorder or if they belong to an at-risk racial or ethnic group. In addition to screening for carrier status for genetic conditions, pregnant women may also undergo prenatal testing to determine if their child is affected by a serious chromosomal abnormality, such as Down syndrome, or an abnormality of the spinal cord such as spinal bifida. Any woman may elect to have her risk for these disorders characterized by noninvasive testing, such as measurement of alphafetoprotein in the mother's blood as a marker for risk of spina bifida and other neural tube defects. If the screening test identifies that she is at increased risk, specific diagnostic tests may be performed, such as ultrasound examinations and amniocentesis for spinal bifida. One of the most common reasons to have genetic screening performed is the mother s age, since the risk of having a child with a chromosomal abnormality increases as a woman ages. Additionally, if both parents are carriers for a genetic condition, prenatal testing can determine if the unborn child is affected with the disease. Preimplantation genetic diagnosis (PGD) is a technique used in conjunction with in vitro fertilization (IVF) to test embryos for specific genetic disorders prior to their transfer to the uterus. PGD makes it possible for couples or individuals who have or who carry serious inherited disorders to decrease the risk of passing the disorder on to their child. This technique is controversial and raises issues of sex selection and genetic engineering. At present, PGD is offered only in a few centers, and may be offered under the supervision of an institutional ethics review board, but its use is increasing. Indications for Genetic Screening-Advanced Maternal Age Women over 35 years of age, those with a previous affected child, and those with a positive family history have a higher risk of Chromosomal problems and miscarriage. Prior to attempting pregnancy, women in this age group and those with high risk histories may wish to consult their physician or a genetic counselor about their chances of having a child with a chromosomal problem, such as Down syndrome, and the choice for prenatal genetic testing if pregnancy is achieved. Non-invasive screening may be performed during the first trimester or second trimester of pregnancy by combining sonographic evaluation of the fetus with biochemical testing of the mother's blood. A normal screening test means that the risk of a chromosomal abnormality is reduced, but not zero. Chorionic villus sampling and amniocentesis are two methods of confirming the diagnosis of a chromosomal abnormality when the screening test is positive. Both of these tests carry a small risk of miscarriage. Many parents want to know this information so they can make informed decisions about their pregnancy. ~ 13 ~

8 Racial or Ethnic Associations to Specific Diseases Sickle Cell Disease: Anyone with African-American ancestry should be screened via hemoglobin electrophoresis for carrier status of this disease, as one in 10 may be a carrier. Cystic fibrosis (CF): It is estimated that 3% to 10% of Caucasians carry a defective CF gene, but do not have symptoms because a person must inherit two defective CF genes, one from each parent, to develop the disease. CF is the most common, serious, inherited disease in Caucasians, and is more common in those of northern or central European background and Ashkenazi Jewish background. Thalassemia: People of Greek, Italian, Mediterranean or southern Asian descent experience a high incidence of this disease. Patients can have a complete blood count (CBC) with mean corpuscular volume (MCV) to rule out the possibility of thalassemia. An MCV of <80 should be evaluated further by hemoglobin electrophoresis. About 3% of the world s population carries a gene for thalassemia. Tay Sachs: This disease has a high incidence in Eastern European Jews and French Canadians. Familial Associations with Specific Diseases A family history of any of the following disorders should prompt genetic counseling, and when relevant, screening or testing for associated gene abnormalities or carrier status: Down Syndrome Seizures Cystic Fibrosis Muscular Dystrophy Neural tube defects Recurrent miscarriage Mental retardation Neurofibromatosis Chromosomal Syndromes Sickle Cell Huntington s disease Hemophilia or other bleeding disorder TaySachs Familial dysautonomia Unexplained still-births or neonatal deaths Medical History/Conditions Associated with Genetic Conditions Recurrent miscarriages may be due to chromosomal or genetic abnormalities. Women who experience two or more consecutive miscarriages are frequently screened to see if they carry abnormal chromosomes that predispose to miscarriage. Congenital bilateral absence of vas deferens (absence of the two muscular tubes that carry sperm from the epididymis to the urethra, CBAVD) is associated with CF. The majority of men with CBAVD have CF. For couples where the man has CBAVD, the CF carrier status of the female partner must be determined. Azoospermia (absence of sperm in semen) and severe oligospermia (very low sperm counts) have been associated with chromosomal and genetic abnormalities. Blood tests, including a karyotype (which looks at the number and structure of the chromosomes) and Y chromosome micro-deletion analysis (which looks for missing pieces of the Y chromosome), may be helpful in selected cases. If abnormalities are identified, genetic counseling is indicated. ~ 14 ~

9 Preconception Genetic Screening - FAQ Who is at risk of having a baby with a genetic disorder? Everyone. Humans have over 40,000 genes. The average person has about three broken genes that may give rise to a child with a genetic disorder. Even if no one in your family has a genetic disorder, you could still have a baby with one. What causes genetic disorders? Many genetic disorders are recessive disorders. In order for a recessive genetic disorder to occur, a baby must inherit a broken gene from both parents. The parents usually do not know that they are carriers for the disorder because they only have one broken gene. People with only one broken gene (a carrier) typically do not have symptoms. What is my chance of being a carrier? The chance that you carry a broken gene that can cause a recessive genetic disorder is related to your ethnic background. The following table lists some of the more common diseases and carrier frequencies in different ethnic groups. If you have no one in your family affected with these condition, this table lists your chance of being a carrier. If you have someone your family affected with one of these conditions, your chance of being a carrier is higher. For descriptions of these conditions, please see the attached Summary of Common Genetic Disorders. Ethnic Group Disease Chance you are a carrier (i.e. have one broken gene) All ethnic groups Cystic Fibrosis 1 in (1 4%) SMA 1 in ( %) Ashkenazi Jewish see Ashkenazi Jewish Panel in the Summary of Common Genetic Disorders. The panel includes all of these conditions except Cystic Fibrosis. Gaucher Disease 1 in 15 (7%) Tay Sachs Disease 1 in 30 (3%) Familial Dysautonomia 1 in 30 (3%) Canavan Disease 1 in 40 (2.5%) Fanconi Anemia Group C 1 in 89 (1%) Niemann-Pick Type-A 1 in 90 (1%) Bloom 1 in 100 (1%) Mucolipidosis IV 1 in 127 (0.8%) African American/West Hemoglobinopathy 1 in 6 75 (1 16%) African Hispanic Hemoglobinopathy 1 in (2 3%) Mediterranean 1 /Asian Hemoglobinopathy 1 in (2.5 5%) (Western Pacific Region) 2 /Middle Eastern 3 South East Asian 4 Hemoglobinopathy 1 in 4 30 (3 25%) French/Cajun Tay Sachs Disease 1 in 30 (3%) 1 Mediterranean: e.g., Sardinia, Corsica, Sicily, Italy, Spain, Portugal, Greece, Cyprus, Turkey, Egypt, Algeria, Libya, Tunisia, Morocco, Malta 2 Asian (Western Pacific region): e.g., China, Vietnam, Philippines, Malaysia, Cambodia, Laos 3 Middle Eastern: e.g., Iran, Iraq, Syria, Jordan, Saudi Arabia and other Arabian peninsula countries, Qatar, Lebanon, Palestine, Israel (both Arabs and Sephardic Jews affected), Kuwait 4 South-East Asian: e.g., India, Afghanistan, Pakistan, Indonesia, Bangladesh, Thailand, Myanmar ~ 15 ~

10 If I m a carrier, will my baby have a genetic disorder? For most of these disorders, if both you and your partner are carriers, you have a 1 in 4 (25%) chance of having a baby with the disorder. However, for some disorders, a person with a broken gene has up to a 1 in 2 (50%) chance of having a baby with the disorder. Your doctor or a genetic counselor can help you determine your risk of having a baby with a specific condition. Can I find out if I am a carrier? Genetic screening tests can be done to tell us if you are a carrier for the more common genetic disorders and are at a higher risk for having a baby with one of these genetic disorders. You can either be tested for each condition individually or opt for a panel of tests. The genetic panels can test for several disorders to over 100 disorders, depending on the panel. If I am a carrier for a genetic disorder, is there anything we can do? First, for recessive conditions (where the baby needs to get a broken gene from both parents) we would test your partner to see if your partner also has the same broken gene. If only one of you is found to have the broken gene, the risk to the baby is greatly reduced. Second, if the baby is at higher risk for a genetic disorder, there are reproductive options available. Your doctor will be able to help you choose the one that is right for you and your family. Will my insurance company cover genetic screening? Maybe. You can contact your insurance company and ask them if they cover genetic testing. Attached to this packet is a list of CPT codes. These are the codes that insurance companies use to describe certain tests. You can give them the CPT code and ask if it is covered. If they ask for a diagnosis code or an ICD-9 code, it depends on who is being tested. If a female partner is being screened, tell them it is v If a male partner is being screened, tell them it is v If genetic screening isn t covered by my insurance, can you tell me how much it costs? Usually, no. The laboratory that does the testing charges a certain price. However, the place where you have your blood drawn will charge you a different price that covers their costs. They also may have contracts with your insurance company that specifies what you will be charged. Depending on your insurance, that price will vary. What are these genetic disorders? Please see the attached sheet: Summary of common genetic disorders. What is Counsyl? Counsyl is one option for genetic screening. Counsyl is a private company that provides genetic screening for over 100 conditions. Some of these conditions are very rare and screening for them is not recommended by any medical organization. However, they do screen for all of the recommended conditions. Counsyl can use your salvia or blood to test. Please note that testing for Fragile X is only available using a blood sample. You can obtain a kit from our office. We can draw your blood, or you can take a kit home. At home, you spit into the kit s tube, seal it, and mail it back to Counsyl. Your results are available online within 2 to 3 weeks. You can find their website at Your insurance company may cover Counsyl. ~ 16 ~

11 CPT Codes If you would like to check with your insurance to see if they cover genetic screening, these are the CPT codes that your insurance company will ask for. If they ask for a diagnosis code or an ICD-9 code, it depends on who is being tested. If a female partner is being screened, tell them it is v If a male partner is being screened, tell them it is v If you are interested in screening for a disorder not found on this list, please contact us and we will give you the appropriate CPT code. If your insurance company won t cover these CPT codes or needs pre-authorization, please contact us for further options. Jewish Panel --does not include Cystic Fibrosis Includes: Gaucher Disease Tay Sachs Disease Familial Dysautonomia Canavan Disease Fanconi Anemia Group C Niemann-Pick Type-A Bloom Mucolipidosis IV CPT Codes: 83891, 83892, 83900, 83901, 83914, 83909, Cystic Fibrosis CPT Codes: 83891, 83900, 83901, 83914, 83909, Tay-Sachs CPT Code: Hemoglobinopathies Includes: Sickle Cell Thalassemia (beta & alpha) Other hemoglobin diseases (such as Hemoglobin E or Hemoglobin C) CPT Codes: 83891, 83898, 83896, 83912, 83021, 83900, 83901, 83894, 83904, 83909, 85025, 83020, Spinal Muscular Atrophy CPT Codes: 83891, 83892, 83898, Counsyl Contact Counsyl directly for insurance coverage questions. ~ 17 ~

12 Preconception Genetic Screening Intent Form Patient Name: Date of Birth: I would like to have genetic screening for the following disorders: UCRM recommends the following testing (please see the following pages for more information): For all ethnic groups (including Caucasian): Spinal Muscular Atrophy (SMA) Cystic Fibrosis (CF) For Ashkenazi Jewish: Ashkenazi Jewish Panel For French Canadian/Cajun: Tay Sachs disease For African American West African Hispanic Mediterranean South-East Asian Western Pacific region Middle Eastern Caribbean South American Hemoglobinopathies (please circle your ethnic group(s) above, so that we may order the correct test) Other options: Counsyl (tests for 100+ conditions, including all of the above) Other, please specify: If you selected any of these options, our office will contact you with the appropriate paper work and consent forms. I would like to talk more with my doctor or genetic counselor before making a decision. You may wish to select this option if you checked yes to any of the questions on the Personal Medical History/Genetic Questionnaire, are of an ethnic background not listed above, or have any questions not addressed in this packet. If you selected this option, please contact our office to arrange a consultation. Or, you may discuss testing options with your OB or local genetic counselor. I do not want genetic screening. I have been provided an information packet explaining genetic screening. I understand that a baby I have could be at risk for a genetic disorder. Genetic screening could help us determine what that risk is. There may be reproductive options that would help us reduce our risk of having a child with a genetic disorder. Signature Date ~ 18 ~