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The application of late amniocentesis: a retrospective study in a tertiary fetal medicine center in China
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  • Yingting Li,
  • Huanchen Yan,
  • Jingsi Chen,
  • Fei Chen,
  • Wei Jian,
  • Jiayan Wang,
  • Xiaoqing Ye,
  • Yufan Li,
  • Nan Li,
  • Philip C.N. Chiu,
  • victor zhang,
  • Min Chen
Yingting Li
the Third Affiliated Hospital of Guangzhou Medical University

Corresponding Author:aisling788@gmail.com

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Huanchen Yan
Third Affiliated Hospital of Guangzhou Medical University
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Jingsi Chen
Third Affiliated Hospital of Guangzhou Medical University
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Fei Chen
the Third Affiliated Hospital of Guangzhou Medical University
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Wei Jian
the Third Affiliated Hospital of Guangzhou Medical University
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Jiayan Wang
the Third Affiliated Hospital of Guangzhou Medical University
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Xiaoqing Ye
the Third Affiliated Hospital of Guangzhou Medical University
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Yufan Li
the Third Affiliated Hospital of Guangzhou Medical University
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Nan Li
the Third Affiliated Hospital of Guangzhou Medical University
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Philip C.N. Chiu
University of Hong Kong
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victor zhang
Baylor College of Medicine
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Min Chen
the Third Affiliated Hospital of Guangzhou Medical University
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Abstract

Objective: To assess the indications and complications of late amniocentesis, as well as the advantagement of advanced genetic test results. Design: Retrospective analysis of case notes of women who underwent late amniocentesis. Setting: A tertiary fetal medicine center in China Population or Sample: 1243 pregnant women (1272 fetuses) that underwent amniocentesis at 24+0 to 39+4 weeks, between January 2014 and June 2019 in our hospital. Methods: Indications, complications, genetic test results and pregnancy outcomes were reported for each pregnancy. Information was obtained from case records, validated by research staff and analyzed by SPSS 21. Main Outcome Measures: Indications, complications, genetic test results, and pregnancy outcomes. Results: Of the 1243 women included, late detected abnormal ultrasound finding(s) (88.3%) comes to be the most common indication. PTB rate and IUD rates were 3.1% and 1.7% separately. Sixty-six fetuses with aneuploidy (5.2%) and Sixty-seven others with a pathogenic CNVs (5.3%) were identified by CMA. One pathogenic CNV (8.3%) were reported via WES. The diagnostic yield turned to maximal (31%) in the sub-group of fetuses with suspected prenatal diagnosis results, following by combination of ultrasound findings (23.1%). Conclusions: Since CMA and ES have considerable detection rates, it is reasonable to serve late amniocentesis as an effective and safe method to detect fetal abnormalities or reassure parents following late detected abnormal ultrasound findings. However, A percentage of CMA and ES may expose uncertain results like VOUS. Therefore, comprehensive genetic counseling is necessary. Key words: Prenatal diagnosis; Chromosomal-microarray-analysis; Fetal malformations; Late amniocentesis; Exon sequencing; Third trimester