Abstract
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.
Highlights
Non-invasive prenatal testing (NIPT) is a new method for screening foetal chromosomal abnormalities based on cell-free foetal DNA (cffDNA) in the peripheral blood of pregnant women and has been widely used in clinical practice
The chorionic characteristics were unknown in 6 cases (0.6%), and there were 0 cases (0%) of conjoined twins
The combined positive predictive value (PPV) of NIPT screening for chromosomal abnormalities in twin pregnancies was 15.4% (2/13), the PPV of screening common trisomy was 33.3% (1/3), the PPV of screening trisomy 21 (T21) was 50% (1/2), and the PPV of screening chromosomal microdeletion and microduplication was 33.3% (1/3)
Summary
Non-invasive prenatal testing (NIPT) is a new method for screening foetal chromosomal abnormalities based on cffDNA in the peripheral blood of pregnant women and has been widely used in clinical practice. A large number of studies at home and abroad have shown that this technology has a high sensitivity and specificity for screening chromosomal aneuploidies in singleton pregnancies [1, 2]. Studies have shown that the risk of chromosomal abnormalities and serious complications in twin pregnancies is significantly higher than that in singleton pregnancies [6]. The effectiveness of traditional serological screening methods in twin pregnancies is significantly decreased [7], and the use of the invasive diagnostic methods in twin pregnancies has the
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