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Syndromic Cleft Lip and Palate in an Infant With Suspected Trisomy 13: Ethical Surgical Decision-making
Simeon Mulugeta Mengistu1, Harom Gari Wakjira1, Dagmawi Geremew Zinaw2
1From the Department of Surgery, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia.
Insights
Surgical repair of cleft lip and palate in infants with Trisomy 13 and malnutrition is complex. Supportive care focusing on nutrition and shared decision-making is often prioritized over surgery due to high risks.
Area of Science:
- Medical Genetics
- Pediatric Surgery
- Clinical Ethics
Background:
- Trisomy 13 (Patau syndrome) involves severe congenital anomalies and neurodevelopmental issues.
- Cleft lip and palate repair in these infants is challenging, especially with malnutrition.
- Malnutrition significantly elevates perioperative risks and impacts prognosis.
Abstract:
Trisomy 13 (Patau syndrome) is a rare, life-limiting chromosomal disorder characterized by severe multisystem anomalies and profound neurodevelopmental impairment. Surgical correction of cleft lip and palate in these infants presents complex clinical and ethical challenges, especially when compounded by malnutrition, which significantly increases perioperative risks and influences overall prognosis. This case report is presented in accordance with the CARE guidelines. A 5-month-old male infant presented with multiple congenital anomalies, including bilateral cleft lip, right-sided cleft palate, bilateral anophthalmia, postaxial polydactyly, and an umbilical hernia, and was clinically diagnosed with trisomy 13 due to the absence of genetic testing. He was diagnosed with severe acute malnutrition at 3 months of age and admitted for nutritional rehabilitation, leading to subsequent improvement. A multidisciplinary evaluation addressed prognosis, operative feasibility, nutritional vulnerabilities, and ethical considerations surrounding surgical intervention. Given the limited survival prospects, heightened surgical risk due to malnutrition, and anticipated quality-of-life outcomes, the surgical team and family, after informed consent, agreed on supportive management focused on feeding optimization, psychosocial support, and continued follow-up, rather than proceeding with cleft repair. In infants with trisomy 13 complicated by malnutrition, decisions regarding cleft repair require nuanced ethical and clinical deliberation. Prioritizing nutritional stabilization, realistic prognostic counseling, and shared decision-making is essential, particularly in resource-limited settings where surgical risk-benefit balance is even more critical.

