Failure of NIPT to detect constitutional chromoanasynthesis involving chromosome 21 in a case of fetal hydrops-A case report.

NIPT 未能检测到胎儿水肿病例中涉及 21 号染色体的结构性色斑 - 一例报告。

• 发表时间: Nov 2019
• 来源期刊: Clin Case Rep
• DOI: 10.1002/ccr3.2369
• PMID: 31788271
• 文章类型: Case Reports
• 作者列表: Bone K,MacPherson MJ,Chernos J,Lauzon J

关键词: chromoanasynthesis; chromosome 21; complex chromosomal rearrangement; fetal hydrops; noninvasive prenatal testing; prenatal diagnosis

Abstract

We report a case of a de novo ring 21 complex chromosomal rearrangement in a fetus presenting with hydrops. Noninvasive prenatal testing (NIPT) failed to detect the imbalance. This case highlights the need to understand the various limitations and strengths of NIPT technology when counseling patients.

摘要

我们报告了一例出现水肿的胎儿从头环21复杂染色体重排的病例。无创性产前检测（NIPT）未能检测到不平衡。此案例强调了在为患者提供咨询时，需要了解NIPT技术的各种局限性和优势。