| 李琳,辛丞,焦北鱼.产前超声诊断胎儿尿道下裂:遗传学检测结果及误诊原因分析[J].中国医学影像技术,2025,41(4):627~631 |
| 产前超声诊断胎儿尿道下裂:遗传学检测结果及误诊原因分析 |
| Prenatal ultrasound of fetal hypospadias: Genetic test results after confirmation and analysis of misdiagnoses |
| 投稿时间：2024-08-15 修订日期：2025-04-11 |
| DOI：10.13929/j.issn.1003-3289.2025.04.025 |
| 中文关键词: 尿道下裂 超声检查,产前 遗传学检测 误诊 |
| 英文关键词:hypospadias ultrasonography, prenatal genetic testing diagnostic errors |
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| 中文摘要: |
| 目的 观察产前超声诊断尿道下裂胎儿确诊后遗传学检测结果及误诊原因。方法 回顾性分析206胎产前超声疑诊尿道下裂胎儿,记录其结局;对确诊病例评估产前超声是否显示其他异常,收集遗传学检测结果,分析孕妇年龄是否≥35岁及产前超声是否显示合并其他异常与染色体或基因异常风险的相关性。结果 206胎中,生后确诊159例尿道下裂,产前超声阳性预测值为77.18%(159/206);其常见表现包括阴茎远端圆钝、阴茎短小、阴茎向腹侧弯曲及"郁金香征",隐睾、室间隔缺损及胎儿生长受限等为常见合并异常。孕妇年龄≥35岁及产前超声合并其他异常均为尿道下裂胎儿存在染色体或基因异常的独立预测因素(P均＜0.05)。单纯阴茎短小下弯、肾上腺皮质增生症及女性胎儿单纯小阴唇肥大等可致产前超声误诊。结论 超声产前诊断胎儿尿道下裂阳性预测值较高;孕妇年龄≥35岁及产前超声合并其他异常提示胎儿染色体或基因异常风险相对较高。 |
| 英文摘要: |
| Objective To explore the genetic test results after confirmation and analyze misdiagnoses of prenatal ultrasound of fetal hypospadias. Methods Totally 206 fetuses with prenatal ultrasound suspected hypospadias were retrospectively enrolled, and the outcomes were followed up. For confirmed cases of hypospadias, prenatal ultrasound showed or did not show other abnormalities, with or without chromosomal and genetic abnormalities were collected, while maternal age≥35 years and the presence of other abnormalities detected by prenatal ultrasound related to the risk of chromosomal or genetic abnormalities were conducted. Results Hypospadias was confirmed postpartum in 159 cases, yielding a positive predictive value of 77.18% (159/206) for prenatal ultrasound. The common prenatal ultrasound manifestations of hypospadias included blunt tip, small penis, ventral curvature and tulip sign. Associated anomalies frequently observed on prenatal ultrasound included cryptorchidism, ventricular septal defect and fetal growth restriction. Maternal age≥35 years and presence of additional abnormalities on prenatal ultrasound were both independent predictors of chromosomal or genetic abnormalities in fetuses with hypospadias (both P＜0.05). Isolated small penis with ventral curvature, congenital adrenal hyperplasia or isolated labia minora hypertrophy in female fetus might lead to misdiagnosis of prenatal ultrasound for fetal hypospadias. Conclusion Prenatal ultrasound had relatively high positive predictive value for diagnosing fetal hypospadias. Maternal age≥35 years and presence of other abnormalities on prenatal ultrasound suggested increased risk of chromosomal or genetic abnormalities. |
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