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Non-invasive prenatal screening for fetal triploidy using single nucleotide polymorphism-based testing: Differential diagnosis and clinical management in cases showing an extra haplotype.

Valerie KantorRuss JelsemaWenbo XuWendy DiNonnoKathryn YoungZachary P DemkoPeter Benn
Published in: Prenatal diagnosis (2022)
SNP-based NIPT, with detection of an extra haplotype, is 11% predictive of triploidy. For results with an extra haplotype, ultrasound is recommended to establish viability, evaluate for twins (viable or vanished), and detect findings consistent with triploidy. Review of patient history, serum screening, and ultrasound will reduce the number of CVS or amniocenteses necessary to confirm a diagnosis of triploidy.
Keyphrases
  • magnetic resonance imaging
  • pregnant women
  • ultrasound guided
  • contrast enhanced ultrasound
  • gene expression
  • loop mediated isothermal amplification
  • quantum dots