Abstract

(Abstracted from Genet Med 2019;21(5):1041–1048) One in 300 pregnancies is impacted by a recessive or X-linked condition. Universal screening is recommended by guidelines for 2 of these conditions (cystic fibrosis and spinal muscular atrophy), but this misses approximately 70% of carriers of other diseases and fails to detect somewhere between 13% and 94% of pregnancies affected with severe conditions, depending on race/ethnicity.

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