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[Trisomy 18 and prune belly syndrome].
Journal De Genetique Humaine
|December 1, 1985
Summary
A midtrimester ultrasound revealed a fetal abdominal mass, later identified as a distended urinary bladder. This finding confirmed a rare prune-belly syndrome in a fetus with Trisomy 18.
Area of Science:
- Medical Imaging
- Fetal Medicine
- Clinical Genetics
Background:
- Midtrimester amniocentesis is a common prenatal diagnostic procedure.
- Intra-abdominal fetal masses require thorough investigation during pregnancy.
- Prone-belly syndrome (PBS) is a rare congenital disorder characterized by abdominal muscle deficiency.
Observation:
- Ultrasonography in a 35-year-old pregnant woman indicated an intra-abdominal fetal mass.
- The identified mass was a significantly distended fetal urinary bladder.
- The pregnancy was terminated at 20 weeks of gestation.
Findings:
- Post-termination necropsy confirmed the diagnosis of prune-belly syndrome.
- Chromosomal analysis revealed a 47, XY, +18 karyotype, indicating Trisomy 18.
- The combination of prune-belly syndrome and Trisomy 18 is exceptionally rare.
Implications:
- This case highlights the importance of detailed fetal anomaly screening during midtrimester ultrasound.
- The co-occurrence of prune-belly syndrome and Trisomy 18 presents unique diagnostic and management challenges.
- Further research into the genetic and developmental pathways of these co-occurring conditions is warranted.