August 2015

Expanded preconception carrier screening in clinical practice Opening Pandoras Box

Genetic testing for inherited genetic conditions is an important component of preconception planning, to assist in assessing the risk of genetic disease in a child, as well as anticipating the management of a woman’s reproductive care. Traditional methods of carrier screening have focused on panethnic screening for conditions including cystic fibrosis and spinal muscular atrophy, whereas other conditions, including hemoglobinopathies and Tay-Sachs, are screened according to a race- or ethnicity-based approach.
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Fertility and Sterility
Editorial Office, American Society for Reproductive Medicine
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Authors

Steven R. Lindheim, M.D., Ami S. Jaeger, J.D.

Volume 104, Issue 2, Pages 281-282

Abstract

Genetic testing for inherited genetic conditions is an important component of preconception planning, to assist in assessing the risk of genetic disease in a child, as well as anticipating the management of a woman’s reproductive care. Traditional methods of carrier screening have focused on panethnic screening for conditions including cystic fibrosis and spinal muscular atrophy, whereas other conditions, including hemoglobinopathies and Tay-Sachs, are screened according to a race- or ethnicity-based approach.

Read the full text at: http://www.fertstert.org/article/S0015-0282(15)00443-4/fulltext


Go to the profile of Fertility and Sterility
Fertility and Sterility
Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders. 

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