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A Baby Born with Ectopia Cordis, Omphalocele, Cleft Lips and Palate: A Case Report
1Department of Paediatrics, Nobel Medical College and Teaching Hospital, Biratnagar, Nepal.
Insights
This case highlights a rare congenital defect, ectopia cordis, presenting late in pregnancy. Early diagnosis is crucial for potential intervention in such complex fetal anomalies.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Surgery
Background:
- Ectopia cordis is a rare congenital anomaly affecting 5-8 per million live births.
- It involves the heart being displaced outside the chest cavity.
- Associated anomalies can include omphalocele, cleft lip, and palate.
Observation:
- A preterm female live birth presented with ectopia cordis, omphalocele, cleft lip, and palate.
- Ultrasound at 14+ weeks did not reveal fetal abnormalities.
- The condition was detected via ultrasound only at 35+ weeks, shortly before delivery.
Findings:
- The neonate experienced mortality within 3 hours of birth due to lack of parental consent for intervention.
- Delayed diagnosis significantly impacted the potential for timely medical or surgical management.
Implications:
- This case underscores the importance of advanced prenatal screening for congenital defects.
- Timely diagnosis of ectopia cordis and associated anomalies is critical for planning interventions and improving neonatal outcomes.
- Further research into improved early detection methods for complex congenital anomalies is warranted.
Abstract:
Ectopia cordis is a rare congenital defect with the prevalence of 5 to 8 per million live births. Here we report a rare case of preterm female live birth with ectopia cordis associated with omphalocele, cleft lip, and palate. In this case, 14+ weeks ultrasound did not show any fetal abnormalities and parents were unaware of the condition until 35+ weeks when ultrasound detected the anomaly a few days before delivery. After delivery, they didn't give consent for further intervention which led to neonatal mortality 3 hours after birth. If the condition was diagnosed in time, an earlier intervention could have been done.
