Alyafee Yusra, Al Tuwaijri Abeer, Alam Qamre, Umair Muhammad, Haddad Shahad, Alharbi Mashael, Ballow Maryam, Al Drees Mohammed, AlAbdulrahman Abdulkareem, Al Khaldi Aziza, Alfadhel Majid
Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdul Aziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Front Genet. 2021 Feb 4;12:630787. doi: 10.3389/fgene.2021.630787. eCollection 2021.
Non-invasive prenatal testing (NIPT) for aneuploidy in pregnant women screening has been recently established in Saudi Arabia. We aim from this study to report our experience in the implementation of this new technology in clinical practice and to assess factors influencing cell-free fetal (cffDNA) fraction and successful NIPT reporting. In total, 200 pregnant women were subjected to the NIPT test using standard methods. Next-generation sequencing (NGS) was used to analyze cffDNA in maternal plasma. Out of the 200 NIPT cases, the average age of pregnant women was 35 ± 6 years (range: 21-48 years). The average cffDNA fraction of reported cases was 13.72% (range: 3-31%). Out of these 200 cases, 187 (93.5%) were at low risk, while 13 (6.5%) cases revealed high risk for aneuploidy. Among these chromosomal abnormalities, 7 (3.5%) cases of Down's syndrome, 5 (2.5%) Edwards' Syndrome, and only 1 case of (0.5%) Patau's syndrome was observed. Out of the 13 high-risk cases, 2 (15.3%) were found in women below the age of 30. This is the first study reporting the successful implementation of an in-house NIPT screening service in Saudi Arabia. Our data showed high accuracy and sensitivity to detect high-risk cases indicating the usefulness of such a technique as an alternative to invasive testing and (hopefully) will change the common screening practice for pregnant women in Saudi Arabia.
沙特阿拉伯最近开展了针对孕妇非整倍体的无创产前检测（NIPT）。本研究旨在报告我们在临床实践中应用这项新技术的经验，并评估影响游离胎儿DNA（cffDNA）比例及NIPT报告成功的因素。总共200名孕妇采用标准方法接受了NIPT检测。采用下一代测序（NGS）分析母血血浆中的cffDNA。在200例NIPT检测病例中，孕妇的平均年龄为35±6岁（范围：21 - 48岁）。报告病例的平均cffDNA比例为13.72%（范围：3% - 31%）。在这200例病例中，187例（93.5%）为低风险，而13例（6.5%）显示非整倍体高风险。在这些染色体异常中，观察到7例（3.5%）唐氏综合征、5例（2.5%）爱德华兹综合征，仅1例（0.5%）帕陶氏综合征。在13例高风险病例中，2例（15.3%）出现在30岁以下的女性中。这是沙特阿拉伯第一项报告成功实施内部NIPT筛查服务的研究。我们的数据显示，检测高风险病例具有高准确性和敏感性，表明这种技术作为侵入性检测的替代方法很有用，（有望）将改变沙特阿拉伯孕妇的常规筛查做法。
