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Comment & Response
December 27, 2016

Prenatal Carrier Screening—Reply

Author Affiliations
  • 1Clinical Genomics Center, University of California-Los Angeles School of Medicine, Los Angeles

Copyright 2016 American Medical Association. All Rights Reserved.

JAMA. 2016;316(24):2676-2677. doi:10.1001/jama.2016.17404

In Reply Dr Haque and colleagues raise concerns about statements in my Editorial. It is true that the ACMG has recommended that all couples be offered screening for spinal muscular atrophy, but to date neither the ACOG nor other professional groups have endorsed this, so in actual practice cystic fibrosis remains the only disease for which universal carrier screening is being performed.

The joint statement1 is not a formal practice guideline. In an ideal world with unlimited resources, couples could be educated about every genetic disease. However, in the real world only those prenatal situations most likely to require a time-sensitive and possibly irreversible decision can practicably be addressed.

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