Introduction Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidies using cell-free DNA (cfDNA) has been widely adopted in clinical practice due to its improved accuracy. A number of NIPT tests have been developed and validated. The purpose of this study is to evaluate the performance of the Veracity NIPT test for sex chromosome aneuploidy (SCA) detection in singleton pregnancies, autosomal aneuploidy detection in twin pregnancies and evaluation of Veracity clinical performance under routine NIPT conditions in a diverse cohort. Methods Blinded retrospective study in singleton pregnancies (n = 305); blinded retrospective and prospective study in twin pregnancies (n = 306) and prospective evaluation of clinical performance in singleton and twin pregnancies (n = 10564). Results Validation study results for the detection of SCAs in singleton pregnancies exhibited 100% sensitivity and specificity and correctly classified 7 (45,X), 4 (47,XXY), 2 (47,XXX) and 1 (47,XYY) cases. Validation study results for autosomal aneuploidy detection in twin pregnancies exhibited 100% sensitivity and specificity and correctly classified 3 trisomy 21, 1 trisomy 18 and 1 trisomy 13 samples. Clinical performance evaluation of Veracity was performed in 10564 pregnancies with median gestational age of 13 weeks, median maternal age 35 years and median gestational weight of 64 kg. Based on confirmation feedback the PPV for trisomies 21, 18 and 13 was estimated at 100% (95% CI, 92-100%), 100% (95% CI, 69-100%) and 71% (95% CI, 29-96%), respectively. Estimated PPV for Monosomy X was 57% (95%CI, 18-90%), while the NPV for SCA detection was estimated at 100% (95% CI, 99.94-100%). Conclusion Veracity NIPT test is based on a very powerful, highly accurate methodology that can be safely applied in the clinical setting.

中文翻译：

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胎儿染色体非整倍体的无创产前检测：准确性测试的验证和临床表现。

引言 使用游离细胞 DNA (cfDNA) 对胎儿非整倍体进行非侵入性产前检测 (NIPT) 由于其准确性提高而在临床实践中得到广泛采用。已经开发和验证了许多 NIPT 测试。本研究的目的是评估 Veracity NIPT 测试在单胎妊娠中检测性染色体非整倍体 (SCA) 的性能、双胎妊娠中的常染色体非整倍体检测以及在不同队列的常规 NIPT 条件下评估 Veracity 临床表现。方法 单胎妊娠的盲法回顾性研究（n = 305）；双胎妊娠（n = 306）的盲法回顾性和前瞻性研究以及单胎和双胎妊娠临床表现的前瞻性评估（n = 10564）。结果 单胎妊娠中 SCA 检测的验证研究结果表现出 100% 的敏感性和特异性，并正确分类了 7 (45,X)、4 (47,XXY)、2 (47,XXX) 和 1 (47,XYY) 病例。双胎妊娠常染色体非整倍体检测的验证研究结果显示出 100% 的敏感性和特异性，并正确分类了 3 个 21 三体、1 个 18 三体和 1 个 13 三体样本。Veracity 的临床表现评估在 10564 名孕妇中进行，中位胎龄为 13 周，中位产妇年龄为 35 岁，中位胎龄为 64 公斤。根据确认反馈，21、18 和 13 三体的 PPV 估计为 100%（95% CI，92-100%）、100%（95% CI，69-100%）和 71%（95% CI，29 -96%），分别。X 单体的估计 PPV 为 57%（95%CI，18-90%），而 SCA 检测的 NPV 估计为 100% (95% CI, 99.94-100%)。结论 Veracity NIPT 测试基于一种非常强大、高度准确的方法，可以安全地应用于临床环境。