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.

Like Comment

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


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. The journal publishes juried original scientific articles in clinical and laboratory research relevant to reproductive endocrinology, urology, andrology, physiology, immunology, genetics, contraception, and menopause. Fertility and Sterility® encourages and supports meaningful basic and clinical research, and facilitates and promotes excellence in professional education, in the field of reproductive medicine.

No comments yet.