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Appropriately grown baby with multiple congenital abnormalities: a case report
Devangi Thakkar1, Narendra Aladangady
1Barts and The London, Queen Mary's School of Medicine and Dentistry, London, United Kingdom. devangi_22@hotmail.com
Insights
This case study discusses a neonate diagnosed with trisomy 18, a condition with a poor prognosis. Palliative care was initiated, highlighting the ethical challenges in managing infants with congenital anomalies.
Area of Science:
- Neonatal Medicine
- Medical Ethics
- Genetics
Background:
- Prenatal scans suggested multiple congenital abnormalities in a full-term neonate.
- Maternal refusal of further antenatal diagnostic testing.
- Postnatal chromosomal analysis confirmed trisomy 18.
Observation:
- The neonate presented with multiple congenital abnormalities.
- The parents were initially optimistic despite the poor prognosis.
- The infant received palliative care and passed away on day 15.
Findings:
- Trisomy 18 is a genetic disorder associated with significant congenital anomalies and a poor prognosis.
- Ethical dilemmas arise when recommending palliative care for neonates with life-limiting conditions.
- Communicating difficult prognoses to optimistic parents requires sensitivity and compassion.
Implications:
- This case underscores the importance of sensitive communication and shared decision-making in neonatal palliative care.
- It highlights the need for ethical frameworks to guide care for neonates with trisomy 18 and similar conditions.
- Emphasizes the challenges faced by healthcare providers in balancing medical recommendations with parental hopes.
Abstract:
We present the case of a full-term baby girl (Baby A) born with multiple congenital abnormalities that were suggested by prenatal scans. The mother had declined further antenatal diagnostic testing. Postnatal chromosomal analyses revealed the karyotype of the baby to be trisomy 18. After detailed, compassionate discussions with the parents, it was decided to provide palliative care in the best interest of the baby, who died on day 15 of life. This case illustrates ethical difficulties in the care of neonates with congenital anomalies with poor prognoses, such as trisomy 18. Recommending palliative care and "do not resuscitate" orders to optimistic parents is extremely difficult and needs to be done in the most sensitive manner possible.
