Extended survival of a premature infant with a postnatal diagnosis of complete triploidy

Abstract

Triploidy is a common chromosomal abnormality that usually results in spontaneous abortion. Liveborn infants usually die within hours or days of birth. We present the case of a female infant born at 30 weeks and 5 days of gestation who received a late postnatal diagnosis of complete triploidy. She had severe intrauterine growth restriction and postnatal findings of multiple facial and limb anomalies. Genetic testing was sent shortly after birth, and the baby had an uneventful neonatal admission, requiring low-level respiratory and feeding support. Following a diagnosis of complete triploidy, she was transferred to a hospice and died on day 36 of life. There are currently 12 other reported cases of survival beyond 30 days. This case adds to the known cohort and highlights the importance of genetic testing in premature neonates with congenital anomalies in order to guide ceiling of care discussions and advocate for quality of life.

Keywords: congenital disorders; end of life decisions (palliative care); genetics; materno-fetal medicine; neonatal and paediatric intensive care.