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多胎妊娠非整倍体筛查:挑战与选择。

Screening for Aneuploidy in Multiple Gestations: The Challenges and Options.

机构信息

Department of Obstetrics and Gynecology, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.

Reproductive Genetics Division, Maternal Fetal Medicine and Reproductive Genetics University of Pennsylvania Perelman School of Medicine, 2 Silverstein Building, 3400 Spruce Street, Philadelphia, PA 19104, USA.

出版信息

Obstet Gynecol Clin North Am. 2018 Mar;45(1):41-53. doi: 10.1016/j.ogc.2017.10.004.

DOI:10.1016/j.ogc.2017.10.004
PMID:29428285
Abstract

As the incidence of multiple gestations increases, the need for effective aneuploidy screening grows. There are unique challenges associated with aneuploidy screening in twins, and the data supporting its use are limited. This article summarizes the risk of aneuploidy for twin gestations and the available screening methods, including nuchal translucency, first-trimester and second-trimester serum screening, and cell-free DNA screening.

摘要

随着多胎妊娠发生率的增加,对有效非整倍体筛查的需求也在增加。双胞胎的非整倍体筛查存在独特的挑战,而且支持其使用的数据有限。本文总结了双胞胎妊娠的非整倍体风险和可用的筛查方法,包括颈项透明层、早孕期和中孕期血清筛查以及游离胎儿 DNA 筛查。

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Screening for Aneuploidy in Multiple Gestations: The Challenges and Options.多胎妊娠非整倍体筛查:挑战与选择。
Obstet Gynecol Clin North Am. 2018 Mar;45(1):41-53. doi: 10.1016/j.ogc.2017.10.004.
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First-trimester nuchal translucency screening for fetal aneuploidy.孕早期胎儿颈项透明层筛查胎儿非整倍体。
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引用本文的文献

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Isolated absence of nasal bone in 1 fetus in a dizygotic pregnancy after in vitro fertilization: A case report.
Medicine (Baltimore). 2020 Oct 2;99(40):e22558. doi: 10.1097/MD.0000000000022558.
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A new era in aneuploidy screening: cfDNA testing in >30,000 multifetal gestations: Experience at one clinical laboratory.在非整倍体筛查的新时代:30,000 余例多胎妊娠中的 cfDNA 检测:一个临床实验室的经验。
PLoS One. 2019 Aug 8;14(8):e0220979. doi: 10.1371/journal.pone.0220979. eCollection 2019.