Guy Carrie, Haji-Sheikhi Farnoosh, Rowland Charles M, Anderson Ben, Owen Renius, Lacbawan Felicitas L, Alagia Damian P
Quest Diagnostics Nichols Institute, San Juan Capistrano, California.
Mol Genet Genomic Med. 2019 Mar;7(3):e545. doi: 10.1002/mgg3.545. Epub 2019 Jan 31.
We evaluated the performance of a cell-free DNA (cfDNA) prenatal screening assay for trisomies 21, 18, and 13, and sex chromosome aneuploidies (SCAs) among a population of pregnant women that included both those at average and high risk.
Specimen collection, cfDNA extraction, massively parallel sequencing, and bioinformatics analysis were conducted per laboratory protocol. Assay results, concordance with pregnancy outcomes, and performance characteristics were evaluated.
A total 75,658 specimens from 72,176 individual pregnant women were received. Technical reasons accounted for 288 (0.4% of all received samples) tests not performed. In the final analysis cohort (N = 69,794), 13% of pregnancies were considered at average risk and 87% at high risk. Mean gestational age at specimen collection was 15.1 weeks. Of the 69,794 unique pregnancies, 1,359 (1.9%) had positive test results. Among the results with confirmed outcomes, PPV for trisomies 21, 18, and 13 was 98.1%, 88.2%, and 59.3%, respectively; the PPV was 69.0% for SCAs and 75.0% for microdeletions. Overall, PPV was 87.2%, sensitivity was 97.9%, and specificity was 99.9%.
This cfDNA prenatal screening assay provides highly accurate discrimination between affected and unaffected pregnancies among a population of pregnant women at average and high risk for fetal genetic abnormalities.
我们评估了一种游离DNA（cfDNA）产前筛查检测方法在包括平均风险和高风险孕妇群体中对21-三体、18-三体、13-三体以及性染色体非整倍体（SCA）的检测性能。
按照实验室方案进行样本采集、cfDNA提取、大规模平行测序和生物信息学分析。评估检测结果、与妊娠结局的一致性以及性能特征。
共收到来自72176名孕妇的75658份样本。因技术原因有288份样本（占所有收到样本的0.4%）未进行检测。在最终分析队列（N = 69794）中，13%的妊娠被认为是平均风险，87%为高风险。样本采集时的平均孕周为15.1周。在69794例单胎妊娠中，1359例（1.9%）检测结果为阳性。在结果得到确认的病例中，21-三体、18-三体和13-三体的阳性预测值（PPV）分别为98.1%、88.2%和59.3%；SCA的PPV为69.0%，微缺失的PPV为75.0%。总体而言，PPV为87.2%，灵敏度为97.9%，特异性为99.9%。
这种cfDNA产前筛查检测方法能够在胎儿遗传异常平均风险和高风险的孕妇群体中，对受影响和未受影响的妊娠进行高度准确的区分。
