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第45卷第1期 南京医科大学学报（自然科学版）
2025年1月 Journal of Nanjing Medical University（Natural Sciences） · 35 ·

·临床研究·

81例产前超声诊断胎儿异常的基因检测分析及临床价值

王咏梅 ，吴 云 ，周 婷 ，杨 玲 ，张沁欣 2
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南京医科大学附属妇产医院（南京市妇幼保健院）超声科，遗传医学中心，江苏 南京 210004
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［摘 要］ 目的：探讨在产前超声诊断胎儿异常（含结构畸形及软指标）但染色体微阵列分析（chromosome microarray analysis，
CMA）未明确病因的情况下，行全外显子组测序（ whole exome sequencing，WES）分析的价值。 方法：收集2022年1月—2024年
1 月在南京医科大学附属妇产医院超声科检查发现胎儿异常，经遗传咨询后选择侵入性产前诊断，抽取绒毛或羊水行 CMA
检测，结果均为阴性的 81 例胎儿，对这些样本再行 WES 检测。基因变异位点的判定参照美国医学遗传学和基因组学学会
遗传变异分类标准与指南进行分类。将致病性和可能致病性变异列为阳性结果，将临床意义未明、良性、可能良性列为阴性
结果。结果：81 例超声异常者包含 47 例单系统异常（58.02%）和 34 例多系统异常（41.98%）。WES 共检出 14 例（17.28%）阳
性，其中单系统异常和多系统异常各7例，其余67例阴性（82.72%）。阳性胎儿最多见的超声异常为心血管系统异常和骨骼系
统异常，均为 5 例（35.71%），其次为泌尿系统异常 4 例（28.57%），此外 2 例胎儿在早期合并颈项透明层（nuchal translucency，
NT）增厚（14.29%），中孕期超声发现多系统异常。结论：超声异常胎儿尤其是合并心血管、骨骼、泌尿系统异常或多系统异常
时，如CMA检测未能明确病因，建议行WES检测，有可能发现遗传学病因。
［关键词］ 产前超声；产前诊断；染色体微阵列分析；全外显子测序
［中图分类号］ R445.1 ［文献标志码］ A ［文章编号］ 1007⁃4368（2025）01⁃35⁃06
doi：10.7655/NYDXBNSN241052

Genetic testing analysis and clinical value of 81 cases of prenatal ultrasound diagnosis of
fetal abnormalities

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WANG Yongmei ，WU Yun ，ZHOU Ting ，YANG Ling ，ZHANG Qinxin 2
1 Department of Ultrasound，Genetic Medicine Center，the Affiliated Obstetrics and Gynaecology Hospital of Nanjing
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Medical University（Nanjing Maternity and Child Health Care Hospital），Nanjing 210004，China
［Abstract］ Objective：To investigate the value of whole exome sequencing（WES）in cases of fetal abnormalities diagnosed by
prenatal ultrasound（including structural malformations and soft markers）where chromosome microarray analysis（CMA）failed to
clarify the cause. Methods：A total of 81 fetuses were selected from the Department of Ultrasound at the Affiliated Obstetrics and
Gynaecology Hospital of Nanjing Medical University，who were diagnosed with fetal abnormalities between January 2022 and January
2024. Following genetic counseling，invasive prenatal diagnoses were chosen，and chorionic villus sampling or amniocentesis was
performed for CMA testing，which yielded negative results. WES analysis was then conducted on these samples. The determination of
genetic variants was classified according to the guidelines of the American Society for Medical Genetics and Genomics（ACMG）.
Pathogenic and possibly pathogenic variants were categorized as positive results，while clinical significance unknown，benign，and
possibly benign were categorized as negative results. Results：The 81 ultrasound anomalies consisted of 47（58.02%）monosystemic
and 34（41.98% ）multisystemic anomalies. WES detected a total of 14（17.28% ）positive cases，including 7 cases each of
monosystemic and multisystemic anomalies，while the remaining 67 cases（82.72%）were negative. The most common ultrasound
abnormalities in positive fetuses were cardiovascular system abnormalities and skeletal system abnormalities，each occurring in 5 cases
（35.71%），followed by urinary system abnormalities in 4 cases（28.57%）. In addition，2 fetuses had combined nuchal translucency
（NT）thickening at early stage（14.29%），and multiple abnormalities were found by ultrasound at mid⁃trimester. Conclusion：Fetuses
with ultrasound anomalies，especially when combined with cardiovascular，skeletal，urinary anomalies or multisystem anomalies，are

［基金项目］ 国家自然科学基金（82101943）
通信作者（Corresponding author），E⁃mail：13912923229@163.com（ORCID：0009⁃0000⁃3250⁃2492）
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