Result of prenatal diagnosis for 151 high-risk women by noninvasive prenatal screening based on high-throughput sequencing.

Yifang Jia; Yan Zhang; Wanxiao Hao; Donghong Shi; Jinlai Meng; Heyong Zhao; Yan Lian; Luwen Xie; Xietong Wang

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Result of prenatal diagnosis for 151 high-risk women by noninvasive prenatal screening based on high-throughput sequencing.

Author: Yifang JIA ^{1
,

2
,

3} ; Yan ZHANG ; Wanxiao HAO ; Donghong SHI ; Jinlai MENG ; Heyong ZHAO ; Yan LIAN ; Luwen XIE ; Xietong WANG
Author Information

1. Center of Prenatal Diagnosis, Shandong Provincial Hospital Affiliated to Shandong University
2. Maternal and Child Health Care Hospital of Shandong Province
3. Key Laboratory of Birth Regulation and Control Technology of the National Health and Family Planning Commission, Jinan, Shandong 250021, China. wxt65@vip.163.com.
Publication Type:Journal Article
MeSH: Aneuploidy; DNA Copy Number Variations; Down Syndrome; Female; High-Throughput Nucleotide Sequencing; methods; Humans; Karyotyping; Microarray Analysis; Pregnancy; Prenatal Diagnosis; Trisomy 13 Syndrome; Trisomy 18 Syndrome
From: Chinese Journal of Medical Genetics 2017;34(5):759-763
CountryChina
Language:Chinese
Abstract:
OBJECTIVETo assess the value of combined fetal karyotyping and chromosomal microarray analysis (CMA) for the verification of high-risk pregnancy signaled by noninvasive prenatal screening (NIPS) based on high-throughput sequencing.
METHODSOne hundred and fifty-one pregnant women with high risks for aneuploidies of chromosomes 13, 18, 21, X and Y or pathological copy number variations (CNVs) by NIPS were subjected to amniocytic karyotyping and CMA analysis.
RESULTSOne hundred and forty-two women were found to have a high risk for fetal chromosomal aneuploidies, which included 83 cases of trisomy 21, 17 cases of trisomy 18, 2 cases of trisomy 13, and 40 cases of sex chromosome aneuploidies. Amniocytic karyotyping and CMA analysis has confirmed 81 cases of trisomy 21, 15 cases of trisomy 18, 10 cases of 47,XXY, 4 cases of 47,XXX, 2 cases of 47,XYY and 1 case of 46,X,del(X)(q26.1). Two trisomy 21, two trisomy 18, 2 trisomy 13, and 23 cases of sex chromosomal aneuploidies were verified as false positives. For 9 women with pathological fetal CNVs detected by NIPS, combined fetal karyotyping and CMA has confirmed 1 case of chromosome 13 microdeletion, 1 case of chromosome 18 microduplication, and 1 case of chromosome 18 deletion. For a case with 30 Mb duplication of chromosome 2 and 25 Mb duplication of chromosome 8, CMA analysis had no positive finding, while fetal umbilical cord blood karyotyping has yielded a 46,XX,dup(2)(p23.1p25.3)[13]/46,XX[87] karyotype. The remaining 5 cases were confirmed as false positive results.
CONCLUSIONCombined fetal karyotyping and CMA has provided a powerful tool for verifying high-risk fetuses signaled by NIPS.