Article
Non-invasive prenatal screening for fetal triploidy using single nucleotide polymorphism-based testing: Differential diagnosis and clinical management in cases showing an extra haplotype.
Prenatal diagnosis - 1 Jul 2022
Kantor Valerie, Jelsema Russ, Xu Wenbo, DiNonno Wendy, Young Kathryn, Demko Zachary, Benn Peter
Abstract excerpt
OBJECTIVE: An extra haplotype is infrequently encountered in single nucleotide polymorphism(SNP)-based non-invasive prenatal testing (NIPT) and is usually attributed to an undetected twin or triploidy. We reviewed a large series to establish relative frequencies of these outcomes and identify alternative causes. METHODS: In 515,804 women receiving NIPT from September 2017 through March 2019, all results with an...
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