Robert Wood Johnson Medical School University of Medicine and Dentistry of New Jersey Section of Perinatal Genetics Division of Maternal Fetal Medicine 125 Paterson Street, New Brunswick, NJ 08901 Tel (732) 235-6630 Fax: (732) 235-7834 Spring 2005, Volume 1 CONTACT INFORMATION Information line for medical professionals: (732) 235-6630 Genetic counseling appointments: (732)-235-6605 Pediatric/Adult evaluations: (732)-235-9386 PROFESSIONAL STAFF Medical Geneticist Genetic Counselors Susan Sklower Brooks, M.D., F.A.C.M.G Elena Ashkinadze, M.S, C.G.C Rachel Allen, M.S. Director, Division of Maternal Fetal Medicine Jennifer Muhammad, M.S., M.A. John Smulian, M.D., M.P.H. Rachel Klein, M.S. Christina Armeli, M.S. Chair, Department of OB/GYN and Reproductive Sciences Anthony Vintzileos, M.D. Administrative Assistant Rosemarie Peschek Introduction available for many genetic conditions and genetic counselors We are pleased to announce the Comprehensive Genetics can help patients navigate the many options. Many genetic Program at UMDNJ-Robert Wood Johnson Medical School in conditions and risks can be identified during pregnancy. New Brunswick, NJ, a collaboration between the Department of Genetic counselors work with obstetricians to determine the best Obstetrics, Gynecology and Reproductive Science and the prenatal screening and testing options for their patients. Department of Pediatrics. Dr. Susan Sklower Brooks has recently joined us as the Director of the Program. For the past The following is a breakdown of common reasons for referrals 25 years, prior to joining the team at UMDNJ-RWJMS, she was and technologies available to your patients. Once a referral by the Director of the Comprehensive Genetics Disease Program in your office is initiated, every effort will be made to schedule Richmond County, NY, the Head of Biochemical Genetics and your patient promptly. Following the patient’s evaluation, a Clinical Geneticist at the Institute for Basic Research in Staten detailed consultation summary will be provided to your office Island. She was associate clinical professor of Pediatrics at the outlining our impression, testing recommend and/or coordinated Mount Sinai School of Medicine. Along with Dr. Brooks, we and suggestions for care management. Now that our program is have five Master-level trained genetic counselors with extensive fully staffed, it is our policy to send the consultation training and experience in Perinatal, Reproductive and summary to the referring obstetricians within one week. Pediatrics Genetics. We welcome your referrals and look forward to participating in the care of your patients. In an effort to help referring physicians keep current on genetic topics as they pertain to their practice, we will issue a quarterly Indications for Referral genetics newsletter. If there are specific topics that you wish for Aneuploidy screening: Given the wide range of options us to address or for general questions, please feel free to contact available to patients including first trimester screening, maternal us at 732-235-6630. Our first quarterly newsletter is featuring serum Quad screening, genetic sonogram, chorionic villus information on indications for genetic counseling and carrier sampling and amniocentesis, patients struggle to navigate testing for cystic fibrosis. through this maze of options. Whether considered high risk because of maternal age or just interested in early diagnosis, What is the purpose of a genetic counseling appointment? patients are often confused about their options. By referring The patient’s pregnancy, family, medical history and age-related patients at 8-10 weeks of gestation, we can educate them risk factors are assessed to determine what, if any, risks exist to regarding the benefits, risks and limitations of testing options their offspring. In some cases, genetic testing is possible to and help patients devise a screening/testing strategy that best conclusively determine if a certain genetic condition can affect suits them. the patient or his/her offspring. Today, genetic testing is Abnormal prenatal test or screen: Patients who have an testing available to all couples seeking either preconceptual or abnormal first trimester screen, increased nuchal translucency, prenatal care. There are a number of potential challenges in abnormal Quad screen, or abnormal ultrasound finding can be implementing this testing and how to offer this testing to your referred for an explanation of the finding(s) and discussion patients. ACOG and the American College of Medical Genetics regarding further fetal evaluation. Patients who have an have issued a patient brochure, “Cystic fibrosis carrier testing: abnormal amniocentesis or CVS result may also be referred for The decision is yours.” This brochure can serve as a useful, and a detailed discussion regarding the clinical features of the proven effective tool by which to educate patients regarding condition and review of their options regarding pregnancy their respective carrier frequency, detection rate of the test, management. clinical features of the condition, and option of prenatal diagnosis in at risk couples. Previously affected child: Couples who have had a child affected by a genetic condition, mental retardation, or birth It is important to note that the likelihood for a patient to be a defect and are concerned regarding the risk of recurrence for carrier depends on his/her ethnic background. To complicate future children would benefit from referral. matters further, as with all genetic tests, a negative result does not mean a patient is not a carrier. A negative result serves to Consanguinity: Couples who are related by blood, such as first decrease the likelihood that the individual is a carrier. With CF or second cousins, can be referred for family history evaluation testing, this decrease also is dependent upon the ethnic and discussion regarding the risk for recessively inherited background and the number of mutations tested. conditions given their consanguinity. Appropriate pregnancy and newborn screening is recommended. Currently over 1000 disease-causing CF mutations have been identified. However, ACOG recommends that each patient be Pregnancy exposures: Patients who are concerned regarding a screened for the 25 most common mutations. Below is an medication, x-ray exposure, alcohol, illicit drug exposure or example to illustrate carrier frequencies and detection rates per occupational exposure can be referred to assess the potential risk ethnic background, when patients are tested for these 25 most to the developing fetus. common CF mutations. These figures may differ based on the laboratory used and the number of mutations evaluated. Recurrent Pregnancy loss, infertility, previous stillbirth: These patients can be referred for assessment to determine if a Ethnic Carrier Carrier Residual genetic or chromosomal cause is contributing to their adverse group frequency detection rate carrier risk Ashkenazi reproductive history. Jewish 1/29 97% 1/930 Caucasians 1/29 88% 1/234 Family or personal history of a genetic disorder or birth African 1/65 69% 1/207 defect: These patients are referred because they are concerned American regarding the risk to themselves or their offspring to have a Hispanic 1/46 57% 1/105 American specific genetic condition that is present in another family Asian member. 1/90 Unknown Unknown American Carrier testing based on a specific ethnicity: For example, Once a patient is determined to be a carrier, testing of their couples of Jewish ancestry currently have a total of eleven partner is indicated. These patients should be informed about conditions available to them for carrier testing. We are the limitations of carrier testing for their partners, which available to coordinate this testing for the patient and her includes a discussion regarding the over 1000 CF mutations that partner, when indicated. have thus far been identified. Most laboratories will screen for the 25 most common mutations. However, certain laboratories Carrier Testing will screen for a greater number of mutations, which may increase the detection rate for individuals of certain ethnic With the ever-evolving field of molecular genetics, it seems that backgrounds. Some patients will elect to have their partner everyday there is a new genetic disorder for which testing is tested for a greater number of mutations, even though the available. It is sometimes difficult to know which testing we are detection rate may not change dramatically. required to offer to our patients. Although genetic screening for Cystic Fibrosis has been around since the early 1990s, We are available to meet with patients to coordinate the testing recommendations have changed in recent years. In this described or to discuss the results after they are tested. We newsletter, we will outline current ACOG recommendations for would suggest that all couples with a positive screen be offered CF carrier testing and suggestions for interpreting results and genetic counseling to discuss the risk to their offspring and advising patients. potential prenatal diagnosis via chorionic villus sampling or amniocentesis. In addition, these at-risk couples would have the Cystic Fibrosis carrier testing option of pre-implantation genetic diagnosis (PGD). PGD is a As most of you already know, ACOG revised their statement on technique that allows testing of embryos for a specific condition cystic fibrosis carrier testing in 2001. Previously it was prior to being transferred back to the uterus during an in vitro recommended that carrier testing be offered only when there fertilization cycle. This technique is not 100%. However, the was a personal or family history of the disease. However, the risk to pass that particular disease would be significantly newest recommendations encourage all OB/GYNs to make this reduced. We hope this summary has been helpful in reviewing indications for genetic counseling and current ACOG recommendation regarding cystic fibrosis carrier testing. We look forward to your questions and the opportunity to participate in the care of your patients. To reach the genetic counseling office directly, please call 732-235-6630. To schedule appointments, your staff or your patients can call 732-235-6605.
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