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Performance evaluation of noninvasive prenatal testing on 24 chromosomes in a cohort of 118,969 pregnant women in Sichuan, China
by
Zhao, Yitong
, Wang, Xueyan
, Chen, Chun
, Wei, Ping
, Wu, Zhiling
, Deng, Fengqiu
, Yan, Mengjia
, Xi, Na
, Qin, Shengfang
in
Adult
/ Aneuploidy
/ Body Mass Index
/ China - epidemiology
/ Chromosome Aberrations
/ Chromosome Disorders - diagnosis
/ Chromosome Disorders - epidemiology
/ Chromosome Disorders - genetics
/ Chromosomes
/ Female
/ Gestational Age
/ Humans
/ Maternal Age
/ Noninvasive Prenatal Testing - methods
/ Observational Study
/ Pregnancy
/ Retrospective Studies
/ Young Adult
2024
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Performance evaluation of noninvasive prenatal testing on 24 chromosomes in a cohort of 118,969 pregnant women in Sichuan, China
by
Zhao, Yitong
, Wang, Xueyan
, Chen, Chun
, Wei, Ping
, Wu, Zhiling
, Deng, Fengqiu
, Yan, Mengjia
, Xi, Na
, Qin, Shengfang
in
Adult
/ Aneuploidy
/ Body Mass Index
/ China - epidemiology
/ Chromosome Aberrations
/ Chromosome Disorders - diagnosis
/ Chromosome Disorders - epidemiology
/ Chromosome Disorders - genetics
/ Chromosomes
/ Female
/ Gestational Age
/ Humans
/ Maternal Age
/ Noninvasive Prenatal Testing - methods
/ Observational Study
/ Pregnancy
/ Retrospective Studies
/ Young Adult
2024
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Performance evaluation of noninvasive prenatal testing on 24 chromosomes in a cohort of 118,969 pregnant women in Sichuan, China
by
Zhao, Yitong
, Wang, Xueyan
, Chen, Chun
, Wei, Ping
, Wu, Zhiling
, Deng, Fengqiu
, Yan, Mengjia
, Xi, Na
, Qin, Shengfang
in
Adult
/ Aneuploidy
/ Body Mass Index
/ China - epidemiology
/ Chromosome Aberrations
/ Chromosome Disorders - diagnosis
/ Chromosome Disorders - epidemiology
/ Chromosome Disorders - genetics
/ Chromosomes
/ Female
/ Gestational Age
/ Humans
/ Maternal Age
/ Noninvasive Prenatal Testing - methods
/ Observational Study
/ Pregnancy
/ Retrospective Studies
/ Young Adult
2024
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Performance evaluation of noninvasive prenatal testing on 24 chromosomes in a cohort of 118,969 pregnant women in Sichuan, China
Journal Article
Performance evaluation of noninvasive prenatal testing on 24 chromosomes in a cohort of 118,969 pregnant women in Sichuan, China
2024
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Overview
Objective
This study aimed to comprehensively analyze the detection capacity of non-invasive prenatal testing (NIPT) for chromosomal abnormalities of all 24 chromosomes, as well as high-risk indications for pregnancy and the fetal fraction, in a large cohort.
Methods
We retrospectively enrolled 118,969 pregnant women who underwent NIPT at Sichuan Provincial Maternity and Child Health Care Hospital from March 2019 to June 2022. The sensitivity, specificity, positive predictive value, negative predictive value, and positive chromosomal abnormality rate were calculated. The fetal fraction based on gestational age, maternal body mass index, and number was examined.
Results
NIPT demonstrated > 99% sensitivity and specificity for almost all of the common trisomies (T21, T18, and T13), sex chromosomal aneuploidies, rare autosomal trisomies, and microdeletion/microduplication syndromes. Positive predictive values varied from 12.0% to 89.6%. Advanced maternal age was associated with an increased risk of three major aneuploidies. The fetal fraction was positively correlated with gestational age and negatively correlated with the maternal body mass index.
Conclusions
NIPT can be used to effectively screen for chromosomal abnormalities across all 24 chromosomes. Advanced maternal age is a risk factor for high-risk pregnancy, and careful consideration of the fetal fraction is essential during NIPT.
Publisher
SAGE Publications,Sage Publications Ltd,SAGE Publishing
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