Eiben B, Krapp M, Borth H, Kutur N, Kreiselmaier P, Glaubitz R, Deutinger J, Merz E
Institut für Klinische Genetik Nordrhein, Essen, Germany.
amedes Hamburg, Zentrum für Endokrinologie, Kinderwunsch und Pränatale Medizin, Hamburg, Germany.
Ultrasound Int Open. 2015 Jul;1(1):E8-E11. doi: 10.1055/s-0035-1555765. Epub 2015 Jun 26.
BACKGROUND & PATIENT: Data from 3 008 patients, who underwent single-nucleotide-polymorphism (SNP)-based noninvasive prenatal testing (NIPT) are presented.
The PanoramaTM test (Natera, San Carlos, CA) was used to analyze cell-free fetal DNA from maternal blood for trisomies 21, 18, and 13, triploidy and sex-chromosome aneuploidies.
In 2 942 (97.8%) cases, a result was obtained. The average fetal fraction was 10.2%. A high-risk result for fetal aneuploidy was made for 65 (2.2%) cases. In 59 (90.8%) of these cases, invasive testing confirmed the aneuploidy. There were 6 false-positive cases. In the false-positive group, the fetal fraction was significantly lower. The overall positive predictive value was 90.8%. No false-negative cases were reported but many patients in this study have not delivered yet. Therefore, exact data cannot be given for potential false-negative cases.
SNP-based NIPT is a reliable screening method for evaluating the risk of aneuploidies of chromosomes 21, 18 and 13. By using NIPT, the number of invasive procedures may be reduced significantly compared to maternal age and first-trimester screening.
本文呈现了3008例接受基于单核苷酸多态性（SNP）的无创产前检测（NIPT）患者的数据。
采用PanoramaTM检测（Natera公司，加利福尼亚州圣卡洛斯）分析母血中的游离胎儿DNA，以检测21、18和13三体、三倍体及性染色体非整倍体。
2942例（97.8%）获得了检测结果。平均胎儿游离DNA比例为10.2%。65例（2.2%）检测结果为胎儿非整倍体高风险。其中59例（90.8%）经侵入性检测证实为非整倍体。有6例假阳性病例。在假阳性组中，胎儿游离DNA比例显著更低。总体阳性预测值为90.8%。未报告假阴性病例，但本研究中的许多患者尚未分娩。因此，无法给出潜在假阴性病例的确切数据。
基于SNP的NIPT是评估21、18和13号染色体非整倍体风险的可靠筛查方法。与基于孕妇年龄和孕早期筛查相比，使用NIPT可显著减少侵入性检查的次数。
