Prenatal ultrasound of fetal hypospadias:Genetic test results after confirmation and analysis of misdiagnoses
10.13929/j.issn.1003-3289.2025.04.025
- VernacularTitle: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
- Author:
Lin LI
1
;
Cheng XIN
;
Beiyu JIAO
Author Information
1. 青岛大学附属妇女儿童医院妇产超声科,山东 青岛 266000
- Publication Type:Journal Article
- Keywords:
hypospadias;
ultrasonography,prenatal;
genetic testing;
diagnostic errors
- From:
Chinese Journal of Medical Imaging Technology
2025;41(4):627-631
- CountryChina
- Language:Chinese
-
Abstract:
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.
