Current controversies in prenatal diagnosis 4: pre-conception expanded carrier screening should replace all current prenatal screening for specific single gene disorders

What's already known about this topic? In the United States there is increasing availability of pan-ethnic carrier screening covering mutations in a large number of genes (“expanded screening”). A large-scale study on the use of expanded carrier screening has been published by a commercial laboratory offering this test. The American College of Medical Genetics and Genomics has issued a position statement on prenatal/preconception expanded carrier screening. What does the study add? This report summarizes an oral debate presented at the 18th International Conference on Prenatal Diagnosis and Therapy in Brisbane, Australia on 23 July 2014. The benefits, limitations, and challenges of preconception expanded carrier screening are discussed.