Chromosomal Microarray Testing in NEC: A Case Report.
Sathyaprasad C Burjonrappa1, David Schwartzberg2
1Attending Pediatric Surgeon, Montefiore Medical Center, USA.
Journal of Neonatal Surgery
|July 20, 2016
Summary
Necrotizing enterocolitis (NEC) is a severe neonatal condition requiring surgery. A rare 15q13.3 microdeletion was identified in a neonate with NEC, suggesting a potential genetic link.
Area of Science:
- Neonatal surgery
- Pediatric gastroenterology
- Clinical genetics
Background:
- Necrotizing enterocolitis (NEC) is a critical surgical emergency in neonates.
- Pathophysiology involves gut dysbiosis, ischemia, and cytokine dysregulation.
Observation:
- A full-term neonate developed NEC requiring extensive bowel resection (120 cm).
- The infant underwent successful jejuno-ileal anastomosis with ileocolic valve preservation.
- Post-surgery, the infant showed bowel adaptation and was weaned from parenteral nutrition.
Findings:
- Chromosomal microarray analysis revealed a 15q13.3 microdeletion in the affected neonate.
- This genetic finding may represent a novel association with NEC development.
Implications:
- The 15q13.3 microdeletion could be a risk factor for NEC.
- Further research is needed to understand the genetic basis of NEC.
- This case highlights the importance of genetic evaluation in complex neonatal surgical cases.
