[Lethal uropathies: prenatal diagnosis and feto-pathologic aspects]

Area of Science:

• Medical Genetics
• Urology
• Prenatal Diagnosis

Background:

• Lethal urinary tract abnormalities pose significant challenges in prenatal diagnosis.
• Accurate identification is crucial for genetic counseling and management.

Purpose of the Study:

• To analyze the spectrum and frequency of lethal urinary tract abnormalities diagnosed prenatally.
• To report on pregnancy outcomes following diagnosis.

Main Methods:

• Retrospective review of prenatal diagnoses over a five-year period.
• Categorization of identified lethal urinary tract abnormalities.

Main Results:

• Forty-three cases of lethal urinary tract abnormalities were diagnosed.
• Bilateral renal agenesis (56%) was the most frequent diagnosis.
• Autosomal recessive polycystic kidney disease (16%) and autosomal dominant polycystic kidney disease (14%) were also significant.
• Pregnancy was interrupted in 81.4% of cases.

Conclusions:

• Prenatal diagnosis of lethal urinary tract abnormalities is critical.
• Bilateral renal agenesis is the predominant condition.
• High rates of pregnancy interruption underscore the severity of these conditions.