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Case Reports: Rare disease
Extended survival of a premature infant with a postnatal diagnosis of complete triploidy
  1. Rachel Walsh and
  2. Anand Sharma
  1. Department of Neonatology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK
  1. Correspondence to Dr Rachel Walsh; rachelwalsh1{at}nhs.net

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.

  • genetics
  • congenital disorders
  • materno-fetal medicine
  • neonatal and paediatric intensive care
  • end of life decisions (palliative care)

https://doi.org/10.1136/bcr-2021-244551

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    Footnotes

    • Contributors AS was the consultant neonatologist caring for this infant during her admission to the neonatal unit. RW is a senior neonatal grid trainee and was among the registrars caring for this infant during her admission. AS suggested a literature review when the infant was diagnosed. This was conducted by RW and revealed a very small number of children surviving beyond the hours and early days post birth. AS and RW agreed to write the case up as a case report due to its importance regarding end-of-life care. AS approached the parents in a follow-up bereavement clinic appointment, and they gave consent for a case report. The case report was written predominantly by RW with edits and input from AS.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.