Objective: To evaluate the best management of fetal megacystis diagnosed in the first trimester and define the prognosis and the most appropriate follow-up as early as possible.
Methods: This is a retrospective study of first-trimester fetal megacystis diagnosed in pregnant women who performed a combined screening for fetal aneuploidy. Megacystis was defined as a longitudinal bladder diameter (LBD) greater than 7 mm. All fetuses were divided into two groups according to the LBD: Group A with LBD > 15 mm and Group B with LBD < 15 mm. The fetal karyotype and associated anomalies were evaluated. Ultrasound monitoring was performed every 2 weeks (a second ultrasound scan after 2 weeks from diagnosis and a third ultrasound scan 2 weeks after the second one).
Results: Twenty-six cases were identified between 2011 and 2016; three cases of aneuploidy were excluded from the study. Of the remaining 23 cases, 11 were included in Group A and 12 in Group B. All Group A fetuses had an adverse outcome. In Group B: five (41.7%) cases had an adverse outcome and seven (58.3%) had a spontaneous resolution of megacystis. The ultrasound findings of both the ultrasound scans, the second and the third, were 100% concordant.
Conclusion: An ultrasound scan performed 2 weeks after the megacystis diagnosis can predict the outcome in fetuses with an LBD < 15 mm as early as the end of the first trimester. The outcome of euploid fetuses with an LBD < 15 mm was favorable in 58.3% of the cases.
Keywords: Fetal anomaly; fetal karyotype; first trimester; megacystis; prenatal counseling.