The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction

In a study involving suspected fetal lower urinary tract obstruction (LUTO), the study found that genetic factors play a significant role in the condition. Seven cases initially diagnosed as LUTO were reevaluated, and none were confirmed as urethral obstruction. Instead, genetic variants classified as likely pathogenic or pathogenic were identified, with five cases showing smooth muscle deficiencies affecting bladder function (MYOCD, ACTG2, MYH11), and two cases had genitourinary and non-genitourinary malformations (KMT2D, BBS10). This highlights the importance of molecular diagnostics in understanding fetuses initially suspected of LUTO, revealing alternative genetic explanations for prenatal ultrasound findings.