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Vol. 19: Spring 2001
Prenatal Diagnosis
From the Editor and Authors:
The spring 2001 Genetic Drift provides an update on prenatal screening and diagnostic techniques currently in use, and a brief preview of those on the horizon. Since our last Update on Prenatal Diagnosis in 1994, there have been significant advances in many areas of prenatal diagnosis, including some of the topics discussed in this issue: single gene disorders, diagnostic fetal ultrasound and preimplantation genetic diagnosis. Given the rapid advances in prenatal diagnosis, primary care providers are encouraged to develop a relationship with local experts in maternal-fetal medicine and clinical genetics, who can be consulted as questions inevitably arise.
This issue was spearheaded by Gail Goldberg, RN, MS (CO) and Kathleen O'Connor, MPS (CO), with contributions from Lorraine Dugoff, MD (CO), Richard O'Neal Jones, MD (CO), Faye Myrick (NM), and Karen Streets (MT).
Overview
Many of the advances in diagnostic studies utilizing molecular genetics (i.e. studies on DNA), biochemical markers (i.e. on body fluids and tissues) and cytogenetics (i.e. studies on chromosomes, including fluorescence in-situ hybridization [FISH]) have applications in prenatal diagnosis. Hence, it is anticipated that the demand for prenatal diagnostic procedures will increase. With the improvements in preimplantation diagnosis and targeted fetal ultrasound, prenatal diagnosis is already no longer limited to amniocentesis, chorionic villus sampling (CVS), and percutaneous umbilical blood sampling (PUBS).
Primary care providers will be called upon to maker referrals to a prenatal diagnosis center, which should employ individuals who have expertise in a number of areas. There should be experts in prenatal ultrasound utilizing high quality imaging equipment, individuals who are competent in performing prenatal diagnosis techniques including CVS, amniocentesis and PUBS, and individuals who are qualified to provide genetic counseling who have internet access to current information on prenatal genetics and testing laboratories. A medical geneticist consultant should also be available for consultation. There are a number of prenatal diagnostic services available throughout the Mountain states region, which can be found in the genetic services directory.
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
Prenatal Diagnosis - Table of Contents
Introduction
Prenatal Diagnosis of Single Gene Disorders
Down Syndrome Maternal Serum Screening
Fetal Ultrasound
Amniocentesis
Chorionic Villus Sampling
Percutaneous Umbilical Blood Sampling
Preimplantation Genetic Diagnosis
The Future of Prenatal Diagnosis
TABLE: Timetable for Prenatal Diagnostic/Screening Procedures
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