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Expanded preconception carrier screening in clinical practice: cutting the Gordian Knot

      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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      Reference

        • Edwards J.G.
        • Feldman G.
        • Goldberg J.
        • Gregg A.R.
        • Norton M.E.
        • Rose N.C.
        • et al.
        Expanded carrier screening in reproductive medicine-points to consider. A joint statement for the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine.
        Obstet Gynecol. 2015; 125: 653-662