EP07.40: Prenatal diagnosis of malformations of the urinary system: about 24 cases

Faced with the ultrasound detection of a neuronephrological anomaly, it is imperative to explore potential associated malformations and promptly identify emergent conditions requiring immediate neonatal care at a specialised facility. This study represents a retrospective and descriptive analysis of a cohort comprising 24 patients diagnosed with fetal urinary tract malformations during pregnancy. These patients were either under the care of or referred to our Department of Gynecology and Obstetrics between January 1, 2016, and December 31, 2020. The average age of our patients was 30 years, with a range from 18 to 42 years. The mean gestational age was 2.58, and the average parity was 1.08. Notably, ten nulliparous women were included in our series. The average gestational age at the time of assessment was 22 weeks, and consanguinity was identified in ten cases. Predominant urinary tract abnormalities comprised renal pyelectasis (45.8%), hyperechoic kidneys (20.8%), and multicystic renal dysplasia (12.5%). Ultrasound examinations unveiled associated anomalies, notably amniotic fluid anomalies (29.16%), facial anomalies (25%), limb anomalies (25%), and cerebral anomalies (25%). Fetal karyotyping was conducted in eight cases, revealing trisomy 18 (three cases), trisomy 13 (one case), and trisomy 21 (two cases). Therapeutic termination of pregnancy was performed in 13 cases, prompted by indications such as oligohydramnios, concurrent lethal malformations, chromosomal anomalies, and associations with malformation syndromes. Full-term deliveries were observed in ten cases, resulting in nine living children. Unfortunately, four cases were lost to follow-up, while the remaining five cases exhibited a favourable outcome. Congenital anomalies of the kidneys and urinary tract represent a wide array of pathologies with the potential to jeopardise renal function or pose life-threatening hazards. Timely prenatal diagnosis is crucial to facilitate prompt and appropriate interventions.