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Epidemiology of choanal atresia with special reference to the CHARGE association
Insights
Epidemiologic data reveal choanal atresia occurs in 0.82 per 10,000 births. The CHARGE association is often overused, with a stricter definition proposed for meaningful clinical use.
Area of Science:
- Medical Genetics
- Pediatric Epidemiology
- Congenital Malformations
Background:
- Choanal atresia is a rare congenital malformation.
- The CHARGE (coloboma, heart defect, choanal atresia, retarded growth and development, genital anomaly, and ear defect with deafness) association is a complex of multiple anomalies.
- The precise definition and clinical application of CHARGE association require clarification.
Purpose of the Study:
- To present epidemiologic data on choanal atresia.
- To analyze the occurrence of associated malformations, particularly in relation to CHARGE association.
- To propose a refined definition for CHARGE association.
Main Methods:
- Utilized data from three large congenital malformation registries.
- Identified 444 infants with choanal atresia from over 5 million births.
- Analyzed associated malformations, chromosomal anomalies, and monogenic syndromes.
Main Results:
- The incidence of choanal atresia is 0.82 per 10,000 births, with variations across registries.
- No significant racial disparities were found, though white infants showed a slightly higher rate.
- CHARGE association appears overused; a stricter definition is suggested, excluding growth retardation.
Conclusions:
- The term CHARGE association should be reserved for infants with choanal atresia and/or coloboma plus at least three cardinal malformations (heart, ear, genital).
- Growth retardation should not be a defining criterion for CHARGE association.
- Clarifying the definition of CHARGE association enhances its clinical utility.
Objective:
To present epidemiologic data on the relatively rare malformation choanal atresia, based on a large collection of material and with special stress on the significance of the so-called CHARGE (coloboma, heart defect, choanal atresia, retarded growth and development, genital anomaly, and ear defect with deafness) association.
Methods:
Data from three large registries of congenital malformations were used. Based on more than 5 million births, 444 infants with choanal atresia were identified.
Results:
The average rate of choanal atresia is 0.82 per 10,000 and varies among programs. There is no statistically significant difference between races in rates, even though white infants have a higher rate than those of other races. The higher rate found in the California program is mainly attributable to unilateral, isolated cases. Unilateral atresia occurs equally often on the right and left. Among all cases of choanal atresia, the sex distribution is normal, a slightly increased risk at twinning exists, and no effect of maternal age or parity is seen. Chromosome anomalies are found in 6% of infants with choanal atresia, and 21 infants (5%) have monogenic syndromes or conditions. An analysis of associated malformations (present in 47% of the infants without chromosome anomalies) indicated that although a weak nonrandom association can be demonstrated between the malformations entering the so-called CHARGE complex, only a small proportion of infants with choanal atresia and other components of that condition probably represent this entity. The term CHARGE association seems to be overused in clinical practice.
Conclusion:
To be meaningful, the term CHARGE should be restricted to infants with multiple malformations and choanal atresia and/or coloboma combined with other cardinal malformations (heart, ear, and genital) and with a total of at least three cardinal malformations. Growth retardation should not be used in the definition.