Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Sep;52(9):3000605241274584.
doi: 10.1177/03000605241274584.

Performance evaluation of noninvasive prenatal testing on 24 chromosomes in a cohort of 118,969 pregnant women in Sichuan, China

Shengfang Qin  1 , Yitong Zhao  1 , Fengqiu Deng  1 , Mengjia Yan  1 , Na Xi  1 , Chun Chen  1 , Ping Wei  1 , Zhiling Wu  1 , Xueyan Wang  1
Affiliations

Performance evaluation of noninvasive prenatal testing on 24 chromosomes in a cohort of 118,969 pregnant women in Sichuan, China

Shengfang Qin et al. J Int Med Res. 2024 Sep.

Abstract

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.

Keywords: Noninvasive prenatal testing; aneuploidy; fetal fraction; prenatal screening; sensitivity; specificity.

PubMed Disclaimer

Conflict of interest statement

Declaration of conflicting interestThe authors declare that there is no conflict of interest.

Figures

Figure 1.
Figure 1.
Results of NIPT and prenatal diagnosis for 118,969 pregnant women. BMI, body mass index; IVF-ET, in vitro fertilization and embryo transfer; NIPT, non-invasive prenatal testing; T21, trisomy 21; T18, trisomy 18; T13, trisomy 13; SCAs, sex chromosomal aneuploidies; RATs, rare autosomal trisomies; MMS, microdeletion/microduplication syndromes.
Figure 2.
Figure 2.
Positive rates of chromosomal aneuploidies in 118,969 pregnant women of different maternal ages. T21, trisomy 21; T18, trisomy 18; T13, trisomy 13; SCAs, sex chromosomal aneuploidies; RATs, rare autosomal trisomies; MMSs, microdeletion/microduplication syndromes.
Figure 3.
Figure 3.
Variation in the fetal fraction with gestational age and maternal BMI, and comparison of FPs and TPs. (a) Fetal fraction in singleton and twin pregnancies in relation to gestational age. (b) Fetal fraction in relation to maternal BMI and (c) comparison of false positive cases and true positive cases in relation to the fetal fraction. BMI, body mass index; FP, false positive; TP, true positive.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Martin CL, Kirkpatrick BE, Ledbetter DH. CNVs, Aneuploidies and Human Disease. Clin Perinatol 2015; 42: 227–242. - PMC - PubMed
    1. Nowakowska B. Clinical interpretation of copy number variants in the human genome. J Appl Genet 2017; 58: 449–457. - PMC - PubMed
    1. Chen Y, Bartanus J, Liang D, et al.. Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development. Human mutation 2017; 38: 669–677. - PMC - PubMed
    1. Chitty LS, Lo YD. Noninvasive prenatal screening for genetic diseases using massively parallel sequencing of maternal plasma DNA. Cold Spring Harb Perspect Med 2015; 5: a023085. - PMC - PubMed
    1. Xu H, Wang S, Ma LL, et al.. Informative priors on fetal fraction increase power of the noninvasive prenatal screen. Genet Med 2018; 20: 817–824. - PubMed

LinkOut - more resources