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

Molecular Cytogenetics

Jiansheng Zhu¹  Yuan Cheng¹  Jingran Li²  Junxiang Tang²  Yuxiu Sun²  Chaohong Wang²  Xinran Lu² 

[1] Affiliated Maternity and Child Health Hospital of Anhui Medical University, Hefei, China;Maternity and Child Health Hospital of Anhui Province, Hefei, China;Maternity and Child Health Hospital of Anhui Province, Hefei, China;

关键词: Non-invasive prenatal testing;    Chromosomal aneuploidy;    Microdeletion;    Microduplication;    Twin pregnancy;   

DOI  :  10.1186/s13039-021-00551-4

来源: Springer

【 摘 要 】

ObjectiveTo 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 methodsIn 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.ResultsThirteen 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.ConclusionSafe 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.

【 授权许可】

CC BY