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Validation of single‐gene noninvasive prenatal testing for sickle cell disease

16 Apr 2022

Abstract excerpt

Screening all pregnancies for sickle cell disease (SCD), as recommended by the American College of Gynecologists,1 is essential to enable informed decisions about diagnostic testing, clinical care, and expand available gene therapy treatment options.2-4 However, traditional prenatal screening, in which both maternal and paternal DNA are required for carrier screening, has a low sensitivity of 42% due to...

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PMID: 35429177
DOI: 10.1002/ajh.26570

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