Case report details triploidy diagnosis and its implications for fetal anomalies and intrauterine fetal death.
Triploidy is a lethal chromosomal abnormality characterized by an additional complete haploid set of chromosomes. It often leads to early miscarriage, severe congenital anomalies and Intrauterine Fetal Death (IUFD) in later gestation. We report a case of a 25-year-old primigravida whose fetus was diagnosed with triploidy (69,XXY) after prenatal ultrasound revealed extensive multisystem anomalies, including central nervous system, skeletal, renal and cardiac defects. Despite full counseling and the offer of termination, the couple opted to continue the pregnancy, which ended in IUFD at 25 weeks. This case highlights the critical role of detailed anomaly scanning, genetic testing and multidisciplinary counseling in such complex scenarios.
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Nassebah Abdulrahman Alrfaj (2025) studied this question.
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