14Jun 2022
Non‐invasive prenatal screening for fetal triploidy using single nucleotide polymorphism‐based testing: Differential diagnosis and clinical management in cases showing an extra haplotype

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

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. Therefore, the study reviewed a large series to establish relative frequencies of these outcomes and identify alternative causes. For results with an extra haplotype, ultrasound is recommended to establish viability, evaluate for twins (viable or vanished), and detect findings consistent with triploidy. In addition, review of patient history, serum screening, and ultrasound will reduce the number of CVS or amniocenteses necessary to confirm a diagnosis of triploidy.

  • #gynaecology - ivf

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