Related Experiment Videos
Chromosome Abnormalities in infants with prune belly anomaly: association with trisomy 18
Insights
Prune Belly Anomaly (PBA) can occur with trisomy 18, a significant chromosomal abnormality. Early detection of aneuploidy is crucial for considering prenatal treatments in affected pregnancies.
Area of Science:
- Medical Genetics
- Developmental Biology
- Prenatal Diagnosis
Background:
- Prune Belly Anomaly (PBA) is a rare congenital disorder characterized by a triad of abdominal muscle deficiency, urinary tract abnormalities, and cryptorchidism.
- PBA is a complex condition with a variable etiology, often associated with other congenital anomalies.
- The genetic basis of PBA is not fully understood, but associations with chromosomal abnormalities have been reported.
Observation:
- This report details two infants diagnosed with Prune Belly Anomaly (PBA) and trisomy 18.
- Severe abdominal distention was identified prenatally via ultrasonography in one infant and postnatally at birth in the second.
- A review of previously associated chromosome abnormalities with PBA is included.
Findings:
- The study highlights a concurrence of Prune Belly Anomaly (PBA) with trisomy 18, indicating a potential link between this specific aneuploidy and PBA.
- The findings suggest that PBA is a malformation sequence with a non-specific cause, capable of manifesting within various aneuploidy syndromes.
- The presence of diverse chromosomal abnormalities in association with PBA is confirmed.
Implications:
- Detecting aneuploidy, such as trisomy 18, is critical in fetuses diagnosed with Prune Belly Anomaly (PBA).
- Accurate prenatal diagnosis of aneuploidy is essential for informed decision-making regarding potential intrauterine fetal treatment options.
- This association underscores the importance of comprehensive genetic evaluation in cases of Prune Belly Anomaly (PBA).
Abstract:
Two infants are described with "prune belly anomaly" (PBA) and concomitant trisomy 18. Severe abdominal distention was detected prenatally in one by ultrasonographic study, and in the second child at birth. Other chromosome abnormalities previously associated with PBA also are reviewed. The prune belly anomaly constitutes a malformation sequence that is causally nonspecific and which may occur in diverse aneuploidy syndromes. Aneuploidy is important to detect in prenatally diagnosed cases in which intrauterine fetal treatment is being considered.