Expanded preconception carrier screening in clinical practice Opening Pandoras Box

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

Volume 104, Issue 2, Pages 281-282


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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