目的 评估无创产前检测(NIPT)筛查双胎妊娠染色体非整倍体异常的可行性。 方法 收集双胎妊娠的孕妇外周血样2 745份，用NIPT进行检测，对高风险的孕妇进行羊水穿刺染色体核型以及染色体微阵列分析检测，随访产前诊断的结果以及妊娠结局，计算NIPT对双胎妊娠染色体非整倍体异常检测的灵敏度、特异度、阳性预测值和假阳性率。 结果 与其他染色体异常相比，NIPT对双胎妊娠中的21三体以及性染色体非整倍体异常检出率更高(敏感性均为100%，特异性分别为99.93%和99.9%)，对于18三体以及13三体，因数据有限难以评估其筛查效能。对于15 ～ 21 Mb的染色体微重复或微缺失，NIPT也有一定的检出率。相比自然受孕的双胎孕妇，NIPT在辅助生殖的双胎孕妇中具有更高的阳性检出率(P<0.05)。 结论 采用NIPT对双胎进行染色体非整倍体异常的筛查是可行的。 Objective To evaluate the feasibility of non-invasive prenatal testing (NIPT) for the screening of fetal chromosome aneuploidies in twin pregnancies. Methods A total of 2 745 women with twin-pregnancies were subjected for NIPT screening. Chromosomal karyotyping and chromosomal microarray analysis (CMA) were carried out on amniotic fluid samples from those with a high risk for fetal chromosome aneuploidies, and the diagnosis and pregnancy outcome were followed up. The sensitivity, specificity, positive predictive value and false positive rate of the NIPT were calculated. Results Compared with other chromosomal abnormalities, NIPT had a higher efficacy for trisomy 21 and sex chromosomal aneuploidy (SCA) in twin pregnancies (with sensitivity being 100%, 100%, and specificity being 99.93%, 99.9%, respectively). It is difficult to evaluate the efficacy for trisomies 18 and 13 due to the limited data. For chromosome microdeletions and microduplications spanning 15 ~ 21 Mb, NIPT also had a certain detection rate. Compared with women with natural conception, NIPT had a higher detection rate for those with twin pregnancies by assisted reproduction (P < 0.05). Conclusion It is feasible to use NIPT for the detection of chromosome aneuploidies in women with twin pregnancies.
Clinical application of non-invasive prenatal testing for twin pregnancies
Objective To evaluate the feasibility of non-invasive prenatal testing (NIPT) for the screening of fetal chromosome aneuploidies in twin pregnancies. Methods A total of 2 745 women with twin-pregnancies were subjected for NIPT screening. Chromosomal karyotyping and chromosomal microarray analysis (CMA) were carried out on amniotic fluid samples from those with a high risk for fetal chromosome aneuploidies, and the diagnosis and pregnancy outcome were followed up. The sensitivity, specificity, positive predictive value and false positive rate of the NIPT were calculated. Results Compared with other chromosomal abnormalities, NIPT had a higher efficacy for trisomy 21 and sex chromosomal aneuploidy (SCA) in twin pregnancies (with sensitivity being 100%, 100%, and specificity being 99.93%, 99.9%, respectively). It is difficult to evaluate the efficacy for trisomies 18 and 13 due to the limited data. For chromosome microdeletions and microduplications spanning 15 ~ 21 Mb, NIPT also had a certain detection rate. Compared with women with natural conception, NIPT had a higher detection rate for those with twin pregnancies by assisted reproduction (P < 0.05). Conclusion It is feasible to use NIPT for the detection of chromosome aneuploidies in women with twin pregnancies.
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