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Mol Cytogenet. 2022 Aug 19;15(1):36. doi: 10.1186/s13039-022-00612-2.
2
[Impact of confined placental mosaicism on non-invasive prenatal testing and pregnancy outcomes].[局限性胎盘嵌合对无创产前检测及妊娠结局的影响]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Apr 10;38(4):335-338. doi: 10.3760/cma.j.cn511374-20200803-00574.
3
Noninvasive Prenatal Testing - When Is It Advantageous to Apply.无创产前检测——何时应用具有优势。
Biomed Hub. 2017 Mar 4;2(1):1-11. doi: 10.1159/000458432. eCollection 2017 Jan-Apr.
4
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Ann Transl Med. 2019 Jul;7(14):317. doi: 10.21037/atm.2019.06.57.
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Ultrasound Obstet Gynecol. 2017 Sep;50(3):302-314. doi: 10.1002/uog.17484. Epub 2017 Jul 27.
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Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities.前脑无裂畸形、脐膨出、巨膀胱及颈项透明层增厚对孕早期染色体异常筛查的影响。
Ultrasound Obstet Gynecol. 2017 Jul;50(1):45-48. doi: 10.1002/uog.17286. Epub 2017 Apr 23.
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8
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Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center.应用母体外周血游离 DNA 低深度全基因组测序技术进行非侵入性产前检测胎儿染色体非整倍体：单中心 1982 例连续病例的回顾性研究
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10
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3117例有羊水穿刺指征孕妇的羊水核型分析及产前诊断策略

Amniotic fluid karyotype analysis and prenatal diagnosis strategy of 3117 pregnant women with amniocentesis indication.

作者信息

Liu Yi, Sun Xue-Cheng, Lv Guo-Jian, Liu Ji-Hong, Sun Chen, Mu Kai

机构信息

Medical Genetics, Zibo Maternal & Child Health Hospital, Zibo, 255000, China.

出版信息

J Comp Eff Res. 2023 May 31;12(6):e220168. doi: 10.57264/cer-2022-0168.

DOI:10.57264/cer-2022-0168
PMID:37256256
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10402904/
Abstract

To examine prenatal diagnosis strategies through fetal karyotype analysis for 3117 pregnant women with genetic amniocentesis indications. According to the different indications for amniocentesis, the study was divided into 8 groups. The number of amniocentesis specimens, the number of abnormal karyotypes and the positive rate of each group were analyzed. Compared with prenatal serum screening, noninvasive prenatal DNA testing is more accurate and can effectively improve screening efficiency. Multiple prenatal diagnosis indicators (37.349%) were more likely to be detected than single prenatal diagnosis indicators (11.091%). None of the screening methods can completely replace amniocentesis, and for pregnant women with genetic indications for amniocentesis, amniocentesis is strongly recommended.

摘要

通过对3117例有遗传羊膜腔穿刺指征的孕妇进行胎儿核型分析来探讨产前诊断策略。根据羊膜腔穿刺的不同指征，将研究分为8组。分析每组羊膜腔穿刺标本数量、核型异常数量及阳性率。与产前血清筛查相比，无创产前DNA检测更准确，能有效提高筛查效率。多种产前诊断指标（37.349%）比单一产前诊断指标（11.091%）更易被检测到。没有一种筛查方法能完全替代羊膜腔穿刺，对于有羊膜腔穿刺遗传指征的孕妇，强烈推荐进行羊膜腔穿刺。