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
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
specific genetic condition that is present in another family                 Asian
member.                                                                                    1/90        Unknown          Unknown

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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