Congenital anomalies: mortality and morbidity, burden and classification

Area of Science:

• Pediatrics
• Medical Genetics
• Public Health

Background:

• Congenital anomalies represent a significant global health concern.
• Quantifying the burden of these anomalies is crucial for resource allocation and intervention strategies.

Purpose of the Study:

• To assess the postnatal mortality and morbidity associated with congenital anomalies.
• To develop a classification system for congenital anomalies into severe and mild types based on their impact.

Main Methods:

• Prospective study of 52,332 liveborn singletons from the Collaborative Perinatal Project.
• Analysis of postnatal mortality up to age 7 years.
• Assessment of morbidity including neurologic, psychologic abnormalities, major surgery, prolonged hospitalization, and chronic infections.

Main Results:

• Syndromes, sequences, and multiple major anomalies imposed the highest burden.
• Attributable risk for major abnormalities ranged from 0.436 for hospitalization to 0.010 for chronic infections.
• Total attributable mortality risk was 0.164, with a mean of 5,020 potential years of life lost per 10,000 population.

Conclusions:

• An index combining mortality, neurologic, psychologic, and surgical variables can objectively classify anomalies.
• This classification aids in understanding and managing the severity of congenital anomalies.
• The findings highlight the substantial impact of congenital anomalies on child mortality and long-term health.