AMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy.
Fondazione Genetica per la Vita Onlus, 80132 Naples, Italy.
Genes (Basel). 2023 Apr 26;14(5):982. doi: 10.3390/genes14050982.
Non-invasive prenatal screening (NIPS) in twin gestations has been shown to have high detection rates and low false-positive rates for trisomy 21, as seen in singleton pregnancies, although there have been few large cohort twin studies, genome-wide studies in particular, to date. In this study, we looked at the performance of genome-wide NIPT in a large cohort consisting of 1244 twin pregnancy samples collected over a two-year period in a single laboratory in Italy. All samples underwent an NIPS for common trisomies, with 61.5% of study participants choosing to undergo genome-wide NIPS for additional fetal anomalies (namely, rare autosomal aneuploidies and CNVs). There were nine initial no-call results, all of which were resolved upon retest. Based on our NIPS results, 17 samples were at high risk for trisomy 21, one for trisomy 18, six for a rare autosomal aneuploidy, and four for a CNV. Clinical follow-up was available for 27 out of 29 high-risk cases; a sensitivity of 100%, a specificity of 99.9%, and a PPV of 94.4% were noted for trisomy 21. Clinical follow-up was also available for 1110 (96.6%) of the low-risk cases, all of which were true negatives. In conclusion, we found that NIPS was a reliable screening approach for trisomy 21 in twin pregnancies.
在双胎妊娠中，非侵入性产前筛查（NIPS）已被证明具有与单胎妊娠相似的高检测率和低假阳性率，用于检测 21 三体，尽管迄今为止，关于双胎妊娠的大型队列研究，尤其是全基因组研究较少。在这项研究中，我们观察了在意大利一个单一实验室收集的为期两年的 1244 例双胎妊娠样本的大型队列中，全基因组 NIPT 的表现。所有样本均接受了常见三体的 NIPS 检测，其中 61.5%的研究参与者选择进行全基因组 NIPS 检测以排除其他胎儿异常（即罕见常染色体非整倍体和 CNV）。有 9 个初始无结果，所有这些结果在重新检测时都得到解决。根据我们的 NIPS 结果，17 个样本有 21 三体的高风险，1 个样本有 18 三体的高风险，6 个样本有罕见常染色体非整倍体的高风险，4 个样本有 CNV 的高风险。29 例高风险病例中有 27 例可获得临床随访；21 三体的敏感性为 100%，特异性为 99.9%，阳性预测值为 94.4%。1110 例（96.6%）低风险病例也可获得临床随访，均为阴性。总之，我们发现 NIPS 是双胎妊娠中 21 三体的可靠筛查方法。
