Discrepant Results on Two Different Single Gene Non-invasive Prenatal Tests for Cystic Fibrosis: A Case Report

Prenatal sgNIPT screening should be individualized after appropriate counseling on the benefits and limitations of available screening and diagnostic tests. While diagnostic amniocentesis remains the society-recommended gold standard for prenatal diagnosis of autosomal-recessive conditions, these new, noninvasive technologies provide more options for patients who either do not want to assume the risks associated with or to better guide decision-making for diagnostic testing.