Non-invasive prenatal testing (NIPT) using cell-free foetal DNA has been widely accepted in recent years for detecting common foetal chromosome aneuploidies, such as trisomies 13, 18 and 21, and sex chromosome aneuploidies. In this study, the practical clinical performance of our foetal DNA testing was evaluated for analysing all chromosome aberrations among 7113 pregnancies in Italy.

This study was a retrospective analysis of collected NIPT data from the Ion S5 next-generation sequencing platform obtained from Altamedica Medical Centre in Rome, Italy.

In this study, NIPT showed 100% sensitivity and 99.9% specificity for trisomies 13, 18 and 21. Out of the 7113 samples analysed, 74 cases (1%) were positive by NIPT testing; foetal karyotyping and follow-up results validated 2 trisomy 13 cases, 5 trisomy 18 cases, 58 trisomy 21 cases and 10 sex chromosome aneuploidy cases. There were no false-negative results.

In our hands, NIPT had high sensitivity and specificity for common chromosomal aneuploidies such as trisomies 13, 18 and 21.

近年来，使用无细胞胎儿DNA的非侵入性产前测试（NIPT）已被广泛接受，用于检测常见的胎儿染色体非整倍性，例如三体性13、18和21，以及性染色体非整倍性。在这项研究中，我们对胎儿DNA测试的实际临床表现进行了评估，以分析意大利7113例怀孕中的所有染色体畸变。

这项研究是对从意大利罗马的Altamedica Medical Center获得的Ion S5下一代测序平台收集的NIPT数据的回顾性分析。

在这项研究中，NIPT对三体性13、18和21表现出100％的敏感性和99.9％的特异性。在分析的7113个样本中，有74例（1％）的NIPT检测呈阳性；而在7113个样本中，NIPT呈阳性。胎儿核型分析和随访结果证实了2三体性13例，5三体性18例，58三体性21例和10性染色体非整倍性。没有假阴性结果。

在我们手中，NIPT对常见的染色体非整倍性（如三体性13、18和21）具有很高的敏感性和特异性。