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Non-mosaic trisomy 20 presenting at 21 weeks' gestation as a thoraco-abdominal mass
R W Driggers1, H Bernstein, M Lantz
1Johns Hopkins University School of Medicine, Baltimore, MD, USA. rdrigge@jhmi.edu
Prenatal Diagnosis
|May 22, 2001
Summary
Non-mosaic trisomy 20, a rare fetal condition, was identified in a fetus with multiple anomalies, including pulmonary sequestration. This case highlights the challenges in prenatal diagnosis and the association of trisomy 20 with severe fetal malformations.
Area of Science:
- Genetics
- Fetal Medicine
- Pathology
Background:
- Non-mosaic trisomy 20 is an uncommon chromosomal abnormality in fetuses.
- Survival beyond the first trimester with this condition is rare.
- Prenatal diagnosis often involves amniotic fluid analysis.
Observation:
- A fetus presented with an unusual thoraco-abdominal mass during prenatal evaluation.
- Amniotic fluid cultures revealed non-mosaic trisomy 20.
- Autopsy identified the mass as pulmonary sequestration.
Findings:
- The fetus exhibited multiple congenital anomalies.
- Non-mosaic trisomy 20 was confirmed as the underlying genetic condition.
- Pulmonary sequestration was a significant finding in association with trisomy 20.
Implications:
- This case underscores the importance of comprehensive genetic evaluation in fetuses with structural anomalies.
- Understanding the spectrum of anomalies associated with trisomy 20 is crucial for genetic counseling.
- Further research is needed to elucidate the pathogenic mechanisms linking trisomy 20 to specific malformations like pulmonary sequestration.