Molecular Genetic Testing in Mainstream Medicine

Pregnancy Exposure/Teratogen Registries

Acyclovir, Valacyclovir, Lamotrigine, Sumatriptin and the Antiretroviral Pregnancy Registries
AED (Antiepileptic Drug) Pregnancy Registry
Chorionic Villus Sampling Birth Defects Registry
VARIVAX® Pregnancy Registry
Information regarding exposures in pregnancy is often difficult to obtain and interpret due to the limited data available. Currently there are several pregnancy exposure registries in North America. The purpose of these projects is to gather information regarding a particular exposure as well as evaluate the data to provide a teratogenic assessment. Information generated from such projects is of great importance to both health care practitioners and the general public. An accurate risk assessment has the potential to decrease anxiety, decrease terminations of wanted pregnancies, and decrease repeated screening and testing of the in utero exposed infant and child which are costly and possibly unnecessary.

The following is a summary of several registries currently in operation.
Acyclovir, Valacyclovir, Lamotrigine, Sumatriptin and the Antiretroviral Pregnancy Registries
Galaxo Wellcome manages five ongoing, international pregnancy registries: Acyclovir, Valacyclovir, Lamotrigine, Sumatriptin, and the Antiretroviral Pregnancy Registry, which is a collaborative effort with Hoffmann-LaRoche Inc. And Bristol-Meyers Squibb Company and collects data on didanosine, lamivudine, saquinavir, stavudine, zalcitabine, and zidovudine.
These registries were established for the purpose of monitoring prenatal drug exposures for evidence of teratogenicity. Registry data are provided to supplement animal toxicology studies. Semi-annual interim reports of registry data are available to interested health care professionals. Each registry has its own advisory committee whose membership includes representatives from Glaxo Wellcome, the Centers for Disease Control and Prevention (CDC), and specialists in the areas of epidemiology, teratology, and pharmacology and relevant therapeutic areas. Health care professionals are asked to register patients and assist in providing follow-up information postpartum. For more information, to register patients and receive a copy of a registry interim report, contact Robbin R. Eldridge or Cindy R. Heffner at (800) 722-9292, ext. 38465 or FAX your requests to (919) 315-8981.
AED (Antiepileptic Drug) Pregnancy Registry
The AED (Antiepileptic Drug) Pregnancy registry is the first north American registry for pregnant women who are taking any AED -- old or new, monotherapy or polytherapy. All information is confidential. Enrolled women will be asked to provide through their doctors information about the health status of their infants. The findings will be analyzed to access the fetal risk from all AED in pregnancy. Any woman or her doctor is urged to call 1-800-233-2334 to enroll in the registry. The registry site is based out of the Genetics and Teratology Unit at Massachusetts General Hospital, under the direction of Dr. Lewis Holmes. To obtain additional information, contact Kelly Huntington at the following: phone (617) 726-1742; FAX (617) 724- 1911; email - aedregistry@helix.mgh.harvard.edu or website - http://neuro- www2.mgh.harvard.edu/aed/registry.nclk.
Chorionic Villus Sampling Birth Defects Registry
The CVS registry has been established to assess the fetal effects of the prenatal diagnosis procedure chorionic villus sampling (CVS). Infants and children with any type of birth defect or hemangiomas who were exposed in utero to CVS are being recruited. Parents and doctors are asked to call 1 (888) CVS (287)-0738 for information and to enroll. All expenses for participating will be provided. This project is supported by the National Institute of Child Health and Human Development. It is located at the Genetics and Teratology Unit at Massachusetts General Hospital wit Dr. Lewis Holmes as the principal investigator. Additional information can be obtained by contacting Caroline McGuirk at: phone (888) 287-0738 or fax (617)724-1911.
VARIVAX® Pregnancy Registry
Varivax®, a live attenuated virus vaccine for the prevention of chickenpox, has been licensed for individuals 12 months of age and older. Use of VARIVAX® during pregnancy is contraindicated, and it is recommended in the package insert that pregnancy be avoided for at least three months following vaccination. There are no data on the potential risks of VARIVAX® in pregnancy, however natural varicella, the wild-type virus has sometimes been associated with a pattern of birth defects called congenital varicella syndrome. Given that women of reproductive age may receive VARIVAX® and that the vaccination may inadvertently occur during pregnancy, a registry has been established by Merck & Co., Inc., in collaboration with the Centers for Disease Control & Prevention, to follow the outcomes of pregnancies when vaccination with VARIVAX® has occurred within three months prior to pregnancy or at any time during pregnancy. The purpose of this registry is to obtain information on pregnancy outcomes that may be of use to health care providers and to women who are vaccinated during this interval.
Patients and health care providers are encouraged to report any vaccinations with VARIVAX® that occur three months prior to pregnancy or at any time during pregnancy. Telephone calls can be directed to the VARIVAX® Pregnancy Registry at 1-800-986-8999. Written reports can be sent to Merck Research Labs, Worldwide Product Safety & Epidemiology, BLA-31, West Point, PA 19486.
The success of these projects depends on the willingness of individuals to participate. An opportunity presents itself to have an impact on the availability of information regarding particular exposures during pregnancy. By having adequate information of an exposure, an accurate risk assessment can be given to a pregnant woman. Which in turn will benefit all those concerned with the well-being of the woman and pregnancy along with the pregnancy outcome.
"Never doubt that a small group of dedicated individuals can change the world . . .Indeed, it's the only thing that ever has." Margaret Mead
Contributed by Marsha Leen-Mitchell (UT)

The Genetic Drift Newsletter is not copyrighted. Readers are free to duplicate all or parts of its contents. The Genetic Drift Newsletter is published semiannually by the Mountain States Genetics Network for associates & those interested in Human Genetics. In accordance with accepted publication standards, we request acknowledgement in print of any article reproduced in another publication. The views expressed in the newsletter do not necessarily reflect local, state, or federal policy. For additional information, contact Carol Clericuzio, M.D., Editor, Department of Pediatrics, The University of New Mexico, Albuquerque, NM, 87131

Molecular Genetic Testing in Mainstream Medicine:
Table of Contents

Introduction
Venous Thrombosis and the Factor V (Leiden) Mutation
DNA Testing for Hereditary Hemochromatosis
APO E Genotype Testing for Broad Beta Disease (Type III Hyperlipoproteinemia)
Fetal Rh Testing for Maternal-Fetal Incompatibility
Type 1 (insulin-dependent) Diabetes Mellitus
Adult Onset Neurodegenerative Disorders: CAG Triplet Repeat Expansion Mutations
Genetic Testing for Prader-Willi and Angelman Syndromes
Clinical and Applied Molecular Genetics Laboratories - MoSt GeNe Region