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The Prenatal Diagnosis of Genetic Disorders

The Prenatal Diagnosis of Genetic Disorders A major goal of genetic counseling is to provide reproductive options for couples who are at risk of having a child with a genetically determined disorder. Until about ten years ago, the available options were very limited and, in situations in which the risks were considered to be too high, principally included various means for avoiding conception. For the many families anxious to have children of their own, as well as for those who were counseling them, such options were clearly unsatisfactory. It was therefore with high hopes that the first and, in retrospect, quite bold attempts were made to diagnose genetic disorders pre­ natally. The principal objective was, and still is, to determine whether a fetus is or is not actually affected, thereby converting probabilities into certainties and permitting the family to decide whether or not to continue the pregnancy. These efforts, which were dependent upon significant advances in cell culture, cy­ togenetic, and obstetrical techniques, rapidly established the feasibility of pre­ natal diagnosis and its applicability to a wide variety of genetic problems. It has taken longer, however, to demonstrate that the act of obtaining amniotic fluid by amniocentesis is a procedure with a low enough http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annual Review of Medicine Annual Reviews

The Prenatal Diagnosis of Genetic Disorders

Annual Review of Medicine , Volume 29 (1) – Feb 1, 1978

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Publisher
Annual Reviews
Copyright
Copyright 1978 Annual Reviews. All rights reserved
Subject
Review Articles
ISSN
0066-4219
eISSN
1545-326X
DOI
10.1146/annurev.me.29.020178.001001
pmid
348029
Publisher site
See Article on Publisher Site

Abstract

A major goal of genetic counseling is to provide reproductive options for couples who are at risk of having a child with a genetically determined disorder. Until about ten years ago, the available options were very limited and, in situations in which the risks were considered to be too high, principally included various means for avoiding conception. For the many families anxious to have children of their own, as well as for those who were counseling them, such options were clearly unsatisfactory. It was therefore with high hopes that the first and, in retrospect, quite bold attempts were made to diagnose genetic disorders pre­ natally. The principal objective was, and still is, to determine whether a fetus is or is not actually affected, thereby converting probabilities into certainties and permitting the family to decide whether or not to continue the pregnancy. These efforts, which were dependent upon significant advances in cell culture, cy­ togenetic, and obstetrical techniques, rapidly established the feasibility of pre­ natal diagnosis and its applicability to a wide variety of genetic problems. It has taken longer, however, to demonstrate that the act of obtaining amniotic fluid by amniocentesis is a procedure with a low enough

Journal

Annual Review of MedicineAnnual Reviews

Published: Feb 1, 1978

There are no references for this article.