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Bilateral renal agenesis in three consecutive siblings.
R P Morse1, E Rawnsley, H C Crowe
1Department of Maternal and Child Health, Dartmouth-Hitchcock Medical Center, Hanover, NH 03756.
Prenatal Diagnosis
|October 1, 1987
Summary
Bilateral renal agenesis (BRA) recurred in three siblings, despite normal genetic tests and parental ultrasounds. Prenatal ultrasound diagnosed Potter
Area of Science:
- Genetics and Developmental Biology
- Medical Imaging
- Pediatric Nephrology
Background:
- Bilateral renal agenesis (BRA) is a rare congenital condition.
- Genetic factors are often implicated in renal agenesis.
- Prenatal diagnosis of BRA can be challenging.
Observation:
- An unusual recurrence of BRA was observed in three consecutive siblings.
- Chromosome analysis in affected siblings was normal.
- Renal ultrasound studies in parents and surviving sibling were normal.
Findings:
- Prenatal ultrasound successfully diagnosed Potter's syndrome in both affected fetuses.
- Autopsy confirmed BRA in otherwise normal fetuses.
- The recurrence suggests potential genetic or environmental factors beyond standard chromosomal analysis.
Implications:
- Ultrasound is crucial for monitoring subsequent pregnancies after a BRA diagnosis.
- Screening unaffected family members with ultrasound can detect asymptomatic genitourinary anomalies.
- A negative family ultrasound study does not eliminate the risk of BRA recurrence.