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doi:10.3969/j.issn.2095-5340.2020.03.006

Journal of Developmental Medicine(Electronic Version)

2020, Vol. 8

Issue (3): 220-226 DOI: 10.3969/j.issn.2095-5340.2020.03.006

The prenatal diagnostic results of unexpected findings after non-invasive prenatal testing

Chang Jiazhen , Zhou Xiya , Qi Qingwei , et al

1. Medical Research Center, Chinese Academy of Medical Sciences, Peking Union Medical College, Peking Union Medical College Hospital, Beijing 100730, China; 2. Obstetric Center, Chinese Academy of Medical Sciences, Peking Union Medical College, Peking Union Medical College Hospital, Beijing 100730, China

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Abstract

【Abstract】 Objective To analyze the prenatal diagnostic results of chromosomal aneuploidy high risk

cases except trisomy 21,18,13 after non-invasive prenatal testing (NIPT), so as to provide evidence for clinical

management for these unexpected fifindings. Methods The 25 334 results of NIPT performed from April 1, 2016 to September 30, 2019 in Peking Union Medical College Hospital were analyzed retrospectively. Genetic counselling was provided for women with NIPT high risk results, and amniocentesis and karyotyping were performed after informed consent. Fluorescence in situ hybridization (FISH) and/ or chromosomal microarray (CMA) analysis were performed meanwhile. For those cases in which the prenatal diagnostic results were inconsistent with NIPT results, copy number variation sequencing (CNV seq) were done for the maternal white blood cell, in order to assure if there was maternal disturbance of chromosomal abnormalities or copy number variations (CNV). Results There were 199 unexpected fifindings in all the 25 334 NIPT (0.79%, 199/25 334), with 141 (0.56%, 141/25 334) sex chromosomal

aneuploidies (SCAs) high risk results and 58 (0.23%, 58/25 334) rare autosomal trisomies (RATs) high risk cases. 132 SCAs high risk cases received prenatal diagnosis, among which 44 cases had consistent

results with NIPT, with a overall positive predict value (PPV) of 33.3%. The PPV for chrX-, chrX+,

chrX+(Y), chrX-(Y) and chrY+ were 14.29%, 36.36%, 58.62%, 0.00% and 100.00%, respectively. 49

RATs high risk cases received prenatal diagnosis, and the most common RATs high risk happened with

chromosome 7 (seven cases). When the prenatal diagnostic results were discordant with NIPT fifindings,

25.0% (22/88) of the SCAs were due to maternal reasons, and 8.6% (3/35) of the RATs were due to

maternal reasons. Conclusions The unexpected fifindings after NIPT wwre not rare, with different PPV

for different chromosomes. Fetus-placenta chromosomal discordance and maternal reasons might be the

main reasons of discordant results of NIPT and prenatal diagnosis. Invasive prenatal diagnosis should be recommended for the unexpected fifindings, and more attention should be paid for mosaic trisomies and pregnancy outcomes.

Key words： Non-invasive prenatal testing')" href="#">

Non-invasive prenatal testing Sex chromosome aneuploidies Rare autosomal trisomies Confifined placental mosaicism')" href="#">Confifined placental mosaicism Prenatal diagnosis

Received: 03 April 2020 Published: 28 July 2020

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