According to the EUROCAT (European Concerted Action on Congenital Anomalies and Twins) Registry, genital anomalies account for 7.9 % of prenatally diagnosed congenital malformations in Europe between 1980 and 2018 [1]. Disorders/differences in sex development (DSD) can be prenatally suspected on prenatal ultrasound due to the presence of abnormalities of the external genitalia [2].

Hypospadias is the most common congenital condition of the male genitalia, affecting around 0.20 % of live male births and is characterized by an abnormal urethral meatus on the ventral side of the penis, penile curvature, presence of a dorsal hood [3,4,5]. The standard postnatal classification of hypospadias is based on the location of the ectopic urethral meatus: glandular (70 % of cases), distal (subcoronal, mid-penile; 10 % of cases) or proximal (posterior penile, penoscrotal, scrotal or perineal; 20 % of cases) [6]. On prenatal ultrasound, hypospadias can be suspected in the presence of signs ranging from a short penis appearance to a more complex pattern that can be confused with a female phenotype. Hypospadias can be diagnosed with ultrasound as a “blunt tip” appearance of the penis when the distal phallus fails to taper normally (Fig. 1). Ventral shortening and curvature of the penis represent chordee. A foreshortened and “buried penis” also may be seen. Finally, the “tulip sign” is seen in severe hypospadias, in which there is penoscrotal transposition, and the penis is curved and located between the folds of a bifid scrotum [7]. The prognosis of isolated hypospadias is usually favorable. However, it may be more variable in cases of severe fetal growth restriction (FGR), associated congenital anomalies or underlying genetic syndrome [8]. That's why prenatal investigations are usually proposed to investigate those associated forms [7]. Prenatal investigations may include genetic sex determination by non-invasive prenatal testing (NIPT), amniocentesis to investigate chromosomal abnormalities, specifically chromosomal microarray analysis (CMA) and fetal hormone profile in the amniotic fluid [9]. The performance of prenatal ultrasound for the diagnosis of hypospadias has already been studied in the literature and the positive predictive value of ultrasound for the diagnosis of hypospadias was found to be 72 % [10]. To our knowledge, the etiological assessment and its correlation with postnatal follow-up in the case of prenatal diagnosis of isolated hypospadias has not been studied in the literature.

The aim of our study was to describe postnatal findings of prenatally diagnosed isolated hypospadias. The second aim was to study the association between prenatal findings and postnatal findings of fetuses with isolated hypospadias.