Prenatal Diagnosis Center of Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian Province, 350001, China.
Ultrasound Obstet Gynecol. 2020 Feb;55(2):242-247. doi: 10.1002/uog.20416. Epub 2020 Jan 8.
To analyze the non-invasive prenatal testing (NIPT) for aneuploidy results of 31 515 singleton pregnancies in Fujian province, southeastern China, and assess its performance in low-, moderate- and high-risk pregnancies.
Women were categorized into groups according to whether their risk for fetal abnormality was low, moderate or high. Cell-free plasma DNA extracted from peripheral blood samples was subjected to low-coverage whole-genome sequencing. Standard Z-score analysis of the mapped sequencing reads was used to identify fetal aneuploidy, including the three main trisomies (T21, T18 and T13) and sex chromosome aneuploidy (SCA). NIPT-positive results were confirmed by amniocentesis and karyotyping. The performance of NIPT for detection of T21, T18, T13 and SCA was assessed by calculating the sensitivity and specificity.
The rate of chromosomal abnormality detected by NIPT in the study population was 1.38%. A higher rate of chromosomal abnormality was found in the high-risk group (1.57%) compared to the moderate-risk (1.05%) and low-risk (1.18%) groups (P < 0.05). Sensitivity and specificity, respectively, were 98.96% (95/96) and 99.94% (31 274/31 292) for detection of T21, 100% (25/25) and 99.96% (31 352/31 363) for T18, 100% (7/7) and 99.97% (31 373/31 381) for T13 and 100% (61/61) and 99.74% (31 245/31 327) for SCA. Positive predictive values were high for T21 (84.07%) and T18 (69.44%) and moderate for T13 (46.67%) and SCA (42.66%).
Our findings support the application of NIPT for reliable and accurate testing of the general population of reproductive-age women for clinically significant fetal aneuploidy. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.
分析中国东南部福建省 31515 例单胎妊娠的无创产前检测（NIPT）结果，并评估其在低、中、高风险妊娠中的表现。
根据胎儿异常风险的高低，将女性分为低、中、高风险组。从外周血样本中提取游离血浆 DNA，进行低覆盖度全基因组测序。对映射测序reads 进行标准 Z 分数分析，以识别胎儿非整倍体，包括三体（21 号、18 号和 13 号）和性染色体非整倍体（SCA）。NIPT 阳性结果通过羊膜穿刺术和核型分析确认。通过计算灵敏度和特异性来评估 NIPT 检测 21 号、18 号、13 号和 SCA 的性能。
研究人群中 NIPT 检测到的染色体异常率为 1.38%。高风险组（1.57%）的染色体异常率高于中风险组（1.05%）和低风险组（1.18%）（P<0.05）。检测 21 号染色体的灵敏度和特异性分别为 98.96%（95/96）和 99.94%（31274/31292），检测 18 号染色体的灵敏度和特异性分别为 100%（25/25）和 99.96%（31352/31363），检测 13 号染色体的灵敏度和特异性分别为 100%（7/7）和 99.97%（31373/31381），检测 SCA 的灵敏度和特异性分别为 100%（61/61）和 99.74%（31245/31327）。21 号和 18 号染色体的阳性预测值较高（84.07%和 69.44%），13 号和 SCA 的阳性预测值中等（46.67%和 42.66%）。
本研究结果支持将 NIPT 应用于具有临床意义的胎儿非整倍体的一般生育年龄女性的可靠和准确检测。版权所有©2019ISUOG。由 John Wiley & Sons Ltd 出版。
