血浆游离DNA低深度测序技术对胎儿性染色体异常筛查价值的初步探讨

李莉; 王晓菲; 赵青冬; 马莹; 付玉荣; 于东渤; 胡凌云; 高志英; 姜淑芳

doi:10.3969/j.issn.2095-5227.2022.08.003

血浆游离DNA低深度测序技术对胎儿性染色体异常筛查价值的初步探讨

Preliminary study on detection of fetal sex chromosomal aneuploidies by low-coverage sequencing of plasma cell-free DNA

摘要

摘要:
背景染色体异常是导致出生缺陷的重要因素，目前无针对性染色体非整倍体的产前筛查方法。无创产前基因检测(noninvasive prenatal test，NIPT)应用于临床除了能常规检测目标疾病外，同时也能检测出性染色体异常，包括微缺失微重复。
目的探讨血浆游离DNA低深度测序技术对胎儿性染色体异常的筛查价值。
方法选取2018年6月 - 2021年7月于解放军总医院第一医学中心妇产科实验室行NIPT孕妇11 239例，年龄17 ~ 46岁，检测时孕周为12 ~ 31周。对其中42例有产前诊断报告的性染色体异常病例进行回顾性分析。
结果 11 239例标本中NIPT筛查出性染色体异常51例，阳性率为0.45%。42例 (42/51) 接受羊膜腔穿刺，确诊性染色体异常22例，阳性预测值(positive predictive value，PPV)为52%(22/42)；18例性染色体数目偏少(XO)确诊8例(44%)，21例性染色体数目偏多(XXX、XXY、XYY)确诊12例(57%)，3例性染色体其他复杂异常(合并5号染色体微缺失)确诊2例(67%)。9例 (9/51) 拒绝接受产前诊断。
结论 NIPT检测技术应用于筛查胎儿性染色体异常有一定的临床意义，可发现性染色体罕见核型及微缺失微重复，但总体假阳性率偏高。

Abstract:
Background Chromosome abnormality is an important factor leading to birth defects. The application of noninvasive prenatal test (NIPT) in clinical practice can not only detect the target diseases, but also the sex chromosome abnormalities, including numerical aberration, microdeletion and microduplication. However, there is a lack of evaluation in clinical detection efficiency.
Objective To explore the value of low-coverage sequencing technology in detecting sex chromosomal abnormalities of fetuses in clinical practice.
Methods From June 2018 to July 2021, 11 239 noninvasive prenatal test results were collected in the First Medical Center of Chinese PLA General Hospital. The age of pregnant women was from 17 to 46 years and the gestational week was from 12 to 31 weeks. Among them, 42 cases were confirmed with sex chromosomal abnormality by NIPT, and their prenatal testing results were analyzed.
Results Of the 11 239 NIPT screening results, 51 cases were reported as sex chromosome abnormality, with the positive rate of 0.45%. Forty-two cases underwent amniocentesis, and 22 cases of abnormal sex chromosomes were diagnosed, with the positive predictive value (PPV) of 52%. The results showed that 8 out of 18 reported as XO were confirmed (PPV: 44%), 12 out of 21 reported as trisomies (XXX, XXY, XYY) were confirmed (PPV: 57%), and 2 out of 3 reported as other sex chromosomal aneuploidies were confirmed (PPV: 67%).
Conclusion NIPT can be an option for fetal sex chromosome abnormality screening, and is capable of detecting rare sex chromosomal aneuploidy, microdeletion and microduplication. However, the overall false positive rate is high.

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