Performance of non-invasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnancies

作者：Yuan Cheng, Xinran Lu, Junxiang Tang, Jingran Li, Yuxiu Sun, Chao-hong Wang, Jiansheng Zhu · 发表于：Molecular Cytogenetics · 年份：2021 · DOI：10.1186/s13039-021-00551-4 · 被引用次数：8 · 研究领域：Prenatal Screening and Diagnostics、Genomic variations and chromosomal abnormalities、Assisted Reproductive Technology and Twin Pregnancy

OBJECTIVE: To investigate the clinical value of non-invasive prenatal testing (NIPT) to screen for chromosomal abnormalities in twin pregnancies and to provide further data on NIPT manifestations in twin pregnancies. MATERIALS AND METHODS: In a 4-year period, 1048 women with twin pregnancies were voluntarily prospectively tested by NIPT to screen for chromosomal abnormalities by sequencing cell-free foetal DNA (cffDNA) in maternal plasma. Positive NIPT results were confirmed by karyotyping, while negative results were followed up 42 days after delivery. RESULTS: Thirteen women had positive NIPT results as follows: 2 cases of trisomy 21 (T21), 1 of trisomy 18 (T18), 7 of sex chromosome aneuploidy (SCA), 1 of microdeletion, and 2 of microduplication. Of these 13 cases, 2 were true-positive cases confirmed by foetal karyotype analysis, namely, 1 case of T21 and 1 of microdeletion. Furthermore, the remaining 11 high-risk pregnant women were confirmed as false positive by foetal karyotyping. Thus, the combined positive predictive value (PPV) of NIPT screening for chromosomal abnormalities in twin pregnancies was 15.4% (2/13). There were no false-negative case via our follow-up results. CONCLUSION: Safe and rapid NIPT has a certain clinical application value; however, the PPV is limited, and the screening efficiency is not stable. Careful use should be made in the screening of chromosomal abnormalities in twin pregnancies.