1.Prenatal ultrasound of fetal hypospadias:Genetic test results after confirmation and analysis of misdiagnoses
Lin LI ; Cheng XIN ; Beiyu JIAO
Chinese Journal of Medical Imaging Technology 2025;41(4):627-631
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.
2.Prenatal ultrasound of fetal hypospadias:Genetic test results after confirmation and analysis of misdiagnoses
Lin LI ; Cheng XIN ; Beiyu JIAO
Chinese Journal of Medical Imaging Technology 2025;41(4):627-631
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.
3.Prenatal ultrasonic manifestations and outcomes of fetal spinal cord terminal central duct dilation
Beiyu JIAO ; Lin LI ; Wen GE ; Taotao CHEN
Chinese Journal of Medical Imaging Technology 2024;40(11):1651-1654
Objective To observe the prenatal ultrasonic manifestations and outcomes of fetal spinal cord terminal central duct dilation.Methods Data of 8 fetuses with spinal cord terminal central duct dilation detected with prenatal ultrasound were retrospectively analyzed,and the ultrasonic manifestations and outcomes were observed.Results Prenatal ultrasound showed varying degrees of spinal cord terminal central duct dilation in all 8 fetuses.The cystic dilation area disappeared spontaneously in 4 fetuses,gradually increased in 1 fetus,continued to exist without significant changes in 1 fetus,the echo at the end of the expansion zone gradually changed from good sound transmission to uneven in 1 fetus,and the cystic expansion structure disappeared and the central duct end enlarged as a whole in third trimester in 1 fetus.Among 8 newborns,no significant abnormality was detected with physical examination in 6 cases,including 1 case of 1-month-old MRI showed fatty filum terminale and 1 case of 3-month-old MRI showed spinal canal cyst and fatty filum terminale,the other 2 cases were diagnosed as tethered cord syndrome and filum terminale fibrolipoma with physical examination and MRI.Conclusion Prenatal ultrasonic manifestations of fetal spinal cord terminal central duct dilation included cystic hypoechoic area of the spinal cord cone and adjacent structures,with clear boundaries and good sound transmission.However,the outcomes of fetal spinal cord terminal central duct dilation were somewhat different.

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