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JAMA Insights
Genomics and Precision Health
September 5, 2017

Preimplantation Genetic Diagnosis for Mendelian Conditions

Author Affiliations
  • 1Department of Obstetrics & Gynecology and Women’s Health, Division of Reproductive and Medical Genetics, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, New York
JAMA. 2017;318(9):859-860. doi:10.1001/jama.2017.10892

Quiz Ref IDCarrier screening for selected recessive mendelian conditions has long been recommended as part of preconception care. Now in wider use, panethnic and expanded carrier screening panels will likely identify more prospective parents who are carriers.1 Preimplantation genetic diagnosis (PGD) is a powerful genetic test of embryos available to persons at risk for having a child with a genetic condition (eg, cystic fibrosis), which can help establish an unaffected pregnancy. In combination with in vitro fertilization (IVF), embryos free of the disease-causing mutation(s) are selected for intrauterine transfer, avoiding the occurrence of the genetic condition in the fetus.