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Congenital nephrosis in low-risk pregnancies
A Ghidini1, M Alvarez, G Silverberg
1Department of Obstetrics, Gynecology and Reproductive Sciences, Mount Sinai School of Medicine, New York, NY 10029.
Prenatal Diagnosis
|July 1, 1994
Summary
Prenatal diagnosis of congenital nephrosis is possible in low-risk populations. Elevated amniotic fluid albumin may aid diagnosis, though false negatives can occur.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Nephrology
Background:
- Congenital nephrosis is a severe autosomal recessive kidney disorder.
- Neonatal renal transplant is essential for survival.
- Postnatal diagnosis relies on electron microscopy of glomerular structures.
Observation:
- Prenatal diagnosis can be suspected with a positive family history.
- Key indicators include elevated amniotic fluid (AF) alpha-fetoprotein (>5 SD above mean).
- Other markers are negative AF acetylcholinesterase, absent fetal hemoglobin, and normal fetal ultrasound.
Findings:
- Seven cases of congenital nephrosis were reviewed.
- Four cases lacked a positive family history.
- Elevated AF albumin concentrations supported the diagnosis in two cases.
Implications:
- Prenatal diagnosis of congenital nephrosis is feasible even in low-risk populations.
- Elevated AF albumin may serve as an additional diagnostic marker.
- Awareness of these markers can improve early detection and management.