Predictive value of ultrasound in prenatal diagnosis of hypospadias: hints for accurate diagnosis

Lutfiye Uygur; Tugba Sarac Sivrikoz; Ibrahim Halil Kalelioglu; Recep Has; Cigdem Kunt Isguder; Tayfun Oktar; Seher Basaran; Atil Yuksel

doi:10.1515/jpm-2023-0003

Article

Predictive value of ultrasound in prenatal diagnosis of hypospadias: hints for accurate diagnosis

Lutfiye Uygur , Tugba Sarac Sivrikoz , Ibrahim Halil Kalelioglu , Recep Has , Cigdem Kunt Isguder , Tayfun Oktar , Seher Basaran and Atil Yuksel

Published/Copyright: May 8, 2023

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From the journal Journal of Perinatal Medicine Volume 51 Issue 7

Abstract

Objectives

This study aims to assess the diagnostic accuracy of targeted ultrasound examination in prenatal diagnosis of hypospadias and to evaluate the predictive values of defined ultrasonographic findings of hypospadias.

Methods

The cases diagnosed with hypospadias in our fetal medicine center were identified on an electronic database. The ultrasound reports, images and hospital records were reviewed retrospectively. The predictive value of prenatal ultrasound diagnosis and the predictive values of each sonographic finding were assessed according to the postnatal clinical examinations.

Results

Thirty-nine cases were diagnosed with hypospadias on ultrasound during the 6 years. Nine fetuses with missing postnatal examination records were excluded. Twentytwo of the remaining fetuses had their prenatal diagnosis of hypospadias confirmed in postnatal examinations, indicating a 73.3 % positive predictive value. Normal external genitalia was detected in postnatal examinations of three fetuses. Five fetuses were diagnosed with other external genital abnormalities, including micropenis (n=2), clitoromegaly (n=2), and buried penis with bifid scrotum (n=1) in postnatal examinations. The positive predictive value of prenatal ultrasound for any external genital abnormality was 90 %.

Conclusions

Although the positive predictive value of ultrasound for genital anomalies is satisfying, it is slightly lower for the specific diagnosis of hypospadias. This reflects overlapping ultrasound findings of different external genitalia anomalies. Standardized, systematic evaluation of the internal and external genital organs, karyotyping and genetic sex determination are essential to achieve a precise prenatal diagnosis of hypospadias.

Keywords: genital abnormalities; hypospadias; penil malformations; prenatal diagnosis; ultrasonographic findings

Corresponding author: Lutfiye Uygur, MD, Department of Obstetrics and Gynecology, Zeynep Kamil Women and Children Health Research Hospital, Division of Maternal & Fetal Medicine Istanbul, 34668, Istanbul, Türkiye, Phone: +90 216 3910680, +90 5557054424, E-mail: lutfiyeuygur@gmail.com

Research funding: None declared.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent has been taken from each patient approving the publication of the ultrasound images and clinical data provided that their identities and personal information are kept confidential.
Ethical approval: The study complies with all the relevant national regulations, institutional policies and in accordance the tenets of the Helsinki Declaration, and has been approved by the authors’ Institutional Ethics Committee.

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Received: 2023-01-02

Accepted: 2023-02-22

Published Online: 2023-05-08

Published in Print: 2023-09-26

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Articles in the same Issue

https://doi.org/10.1515/jpm-2023-0003

Keywords for this article

genital abnormalities; hypospadias; penil malformations; prenatal diagnosis; ultrasonographic findings