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.

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