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Prenatal diagnosis of triploidy
Summary
Triploid gestation, a rare condition incompatible with life, can be suspected in early pregnancy with large uterus and bleeding. Diagnosis requires karyotyping, and termination is indicated.
Area of Science:
- Reproductive Medicine
- Medical Genetics
Background:
- Triploidy is a rare chromosomal abnormality where a fetus has three sets of chromosomes instead of two.
- This condition is typically incompatible with long-term survival.
Observation:
- Two cases of late midtrimester triploid gestation are presented.
- Clinical suspicion may arise from unexplained first and second-trimester bleeding with an unusually large uterus.
- Early gestational hypertension can also be an indicator of a triploid fetus.
Findings:
- Ultrasound examination often reveals placental abnormalities, characterized by multiple sonolucent areas.
- Karyotyping of amniotic fluid cells confirms the diagnosis of triploidy.
- Human chorionic gonadotropin (HCG) levels should be monitored post-termination for persistent trophoblastic tissue.
Implications:
- Triploid gestation is incompatible with life, necessitating termination of pregnancy.
- Early recognition and diagnosis are crucial for appropriate management.
- Post-procedural monitoring of HCG is recommended to rule out persistent trophoblastic disease.