游离胎儿 DNA 检测及其与产前指征的相关性。
Cell-free fetal DNA testing and its correlation with prenatal indications.
机构信息
Department of Clinical Laboratory, Renmin Hospital of Wuhan University, 99 Ziyang Road of Wuchang District, Wuhan, 430060, China.
Pennsylvania State University College of Medicine and Hershey Medical center, Hershey, PA, 17033, USA.
出版信息
BMC Pregnancy Childbirth. 2021 Aug 24;21(1):585. doi: 10.1186/s12884-021-04044-5.
BACKGROUND
The prenatal test of cell-free fetal DNA (cffDNA) is also known as noninvasive prenatal testing (NIPT) with high sensitivity and specificity. This study is to evaluate the performance of NIPT and its clinical relevance with various clinical indications.
METHODS
A retrospective analysis was conducted on 14,316 pregnant women with prenatal indications, including advanced maternal age (≥35 years), maternal serum screening abnormalities, the thickened nuchal translucency (≥2.5 mm) and other ultrasound abnormalities, twin pregnancy/IVF-ET pregnancy, etc. The whole-genome sequencing (WGS) of maternal plasma cffDNA was employed in this study.
RESULTS
A total of 189 (1.32%) positive NIPT cases were identified, and 113/189 (59.79%)cases were confirmed by invasive prenatal testing. Abnormal serological screening (53.14%) was the most common indication, followed by elderly pregnancy (23.02%). The positive prediction value for T21, T18, T13, sex chromosome abnormalities, other autosomal aneuploidy abnormalities, and CNV abnormalities were 91.84, 68.75,37.50, 66.67, 14.29, and 6.45%, respectively. The positive rate and the true positive rate of nuchal translucency (NT) thickening were the highest (4.17 and 3.33%), followed by the voluntary requirement group (3.49 and 1.90%) in the various prenatal screening indications. The cffDNA concentration was linearly correlated with gestational age (≥10 weeks) and the positive NIPT group's Z-score values.
CONCLUSIONS
whole-genome sequencing of cffDNA has extremely high sensitivity and specificity for T21, high sensitivity for T18, sex chromosome abnormalities, and T13. It also provides evidence for other abnormal chromosomal karyotypes (CNV and non-21/18/13 autosomal aneuploidy abnormalities). The cffDNA concentration is closely related to the gestational age and determines the specificity of NIPT. Our results highlight NIPT's clinical significance, which is an effective prenatal screening tool for high-quality care of pregnancy.
背景
游离胎儿 DNA（cffDNA）的产前检测也称为无创产前检测（NIPT），具有高灵敏度和特异性。本研究旨在评估 NIPT 的性能及其在各种临床指征下的临床相关性。
方法
对 14316 名具有产前指征的孕妇进行回顾性分析，包括高龄（≥35 岁）、母体血清筛查异常、颈项透明层增厚（≥2.5mm）和其他超声异常、双胎妊娠/试管婴儿等。本研究采用母体血浆 cffDNA 全基因组测序（WGS）。
结果
共发现 189 例（1.32%）阳性 NIPT 病例，其中 113 例（59.79%）经有创性产前检测证实。异常血清学筛查（53.14%）是最常见的指征，其次是高龄妊娠（23.02%）。T21、T18、T13、性染色体异常、其他常染色体非整倍体异常和 CNV 异常的阳性预测值分别为 91.84%、68.75%、37.50%、66.67%、14.29%和 6.45%。在各种产前筛查指征中，颈项透明层增厚的阳性率和真阳性率最高（分别为 4.17%和 3.33%），其次是自愿要求组（分别为 3.49%和 1.90%）。cffDNA 浓度与孕龄（≥10 周）和阳性 NIPT 组的 Z 评分值呈线性相关。
结论
cffDNA 的全基因组测序对 T21 具有极高的灵敏度和特异性，对 T18、性染色体异常和 T13 具有高灵敏度，为其他异常染色体核型（CNV 和非 21/18/13 常染色体非整倍体异常）提供了证据。cffDNA 浓度与孕龄密切相关，决定了 NIPT 的特异性。我们的研究结果突出了 NIPT 的临床意义，它是高质量妊娠护理的有效产前筛查工具。
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