Margiotti Katia, Cesta Anthony, Dello Russo Claudio, Cima Antonella, Barone Maria Antonietta, Viola Antonella, Sparacino Davide, Mesoraca Alvaro, Giorlandino Claudio
Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, 00198, Rome, Italy.
Department of Prenatal Diagnosis, Altamedica, Fetal-Maternal Medical Centre, Viale Liegi 45, 00198, Rome, Italy.
BMC Res Notes. 2020 Mar 18;13(1):167. doi: 10.1186/s13104-020-05009-1.
Non invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) has been widely accepted in recent years to detect common fetal autosomal chromosome aneuploidies and sex chromosome aneuploidies (SCAs). In this study, the clinical performance of our fetal DNA testing was investigated by analyzing the sex chromosome aneuploidy aberrations among 9985 pregnancies. The study was a retrospective analysis of collected NIPT data from the Ion S5 next-generation sequencing (NGS) platform obtained from Altamedica Medical Centre of Rome.
NIPT analysis of 9985 pregnancies revealed 31 cases with abnormal SCA results (0.31%). Among the 31 positive NIPT cases, 22 women agreed to undergo fetal karyotyping, whereas 9 refused further analyses. Of the 22 women verified by karyotyping analysis, 77.3% (17/22) were confirmed to be true positive SCAs, whereas 22.7% (5/22) were false positive. Among the true positive cases, 53.0% (9/17) were positive for monosomy X, 17.6% (3/17) were positive for 47, XXX aneuploidy, 23.5% (4/17) were positive for 47, XXY aneuploidy, and 5.9% (1/17) were positive for 47, XYY aneuploidy. In conclusion, the present results confirm that NIPT is a potential method for SCA screening, although this technology needs to be further investigated to improve the test performance.
近年来，使用游离胎儿DNA（cffDNA）的无创产前检测（NIPT）已被广泛用于检测常见的胎儿常染色体非整倍体和性染色体非整倍体（SCA）。在本研究中，通过分析9985例妊娠中的性染色体非整倍体畸变，对我们的胎儿DNA检测的临床性能进行了研究。该研究是对从罗马阿尔塔梅迪卡医疗中心获得的Ion S5下一代测序（NGS）平台收集的NIPT数据进行的回顾性分析。
对9985例妊娠进行的NIPT分析显示，31例SCA结果异常（0.31%）。在31例NIPT阳性病例中，22名女性同意进行胎儿核型分析，而9名拒绝进一步分析。在通过核型分析验证的22名女性中，77.3%（17/22）被确认为真正的阳性SCA，而22.7%（5/22）为假阳性。在真正的阳性病例中，53.0%（9/17）为X单体阳性，17.6%（3/17）为47，XXX非整倍体阳性，23.5%（4/17）为47，XXY非整倍体阳性，5.9%（1/17）为47，XYY非整倍体阳性。总之，目前的结果证实NIPT是一种潜在的SCA筛查方法，尽管该技术需要进一步研究以提高检测性能。
