EPIDEMIOLOGY OF CHOANAL ATRESIA WITH SPECIAL REFERENCE TO THE CHARGE ASSOCIATION

Objective. To present epidemiologic data on the relatively rare malfor mation choanal atresia, based on a large collection of material and wi th special stress on the significance of the so-called CHARGE (colobom a, heart defect, choanal atresia, retarded growth and development, gen ital anomaly, and ear defect with deafness) association. Methods. Data from three large registries of congenital malformations were used. Ba sed on more than 5 million births, 444 infants with choanal atresia we re identified. Results. The average rate of choanal atresia is 0.82 pe r 10 000 and varies among programs. There is no statistically signific ant 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 case s. Unilateral atresia occurs equally often on the right and left. Amon g all cases of choanal atresia, the sex distribution is normal, a slig htly increased risk at twinning exists, and no effect of maternal age or parity is seen. Chromosome anomalies are found in 6% of infants wit h choanal atresia, and 21 infants (5%) have monogenic syndromes or con ditions. An analysis of associated malformations (present in 47% of th e infants without chromosome anomalies) indicated that although a weak nonrandom association can be demonstrated between the malformations e ntering the so-called CHARGE complex, only a small proportion of infan ts with choanal atresia and other components of that condition probabl y represent this entity. The term CHARGE association seems to be overu sed in clinical practice. Conclusion. To be meaningful, the term CHARG E should be restricted to infants with multiple malformations and choa nal 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 definitio n.