Minor anomalies: can they predict specific major defects? A study based on 23 major and 14 minor anomalies in over 25,000 infants with birth defects

CAMPAÑA H; RITTLER, M; POLETTA, FA; GILI, JA; PAWLUK MS; SCALA, SC; LOPEZ CAMELO, JS

AMERICAN JOURNAL OF PERINATOLOGY

THIEME MEDICAL PUBL INC

Año: 2013 vol. 31 p. 447 - 454

0735-1631

Background: Minor anomalies (mAs) are morphologic features with little clinical relevance that have been mentioned as possible predictors of major defects (MDs). Objectives: To identify preferential associations between selected MDs and mAs and to establish if mAs can serve as predictors for specific MDs. Study design: Information of infants with birth defects was obtained from the ECLAMC (Latin American Collaborative Study of Congenital Malformations)database. The sample consisted of 27,247 live- and stillborn infants with multiple malformations that included at least one of the selected MDs or mAs. Odds ratios and predictive values were calculated for significant associations, and concurrence rates in first degree relatives. Results: Thirty-three significant minor-major associations were identified. Single umbilical artery (SUA) and preauricular tags were the most frequent mAs; the former was associated with ten MDs, the latter only with microtia. The highest positive predictive value was shown by SUA for anal atresia. Infants with preauricular tags had significantly more relatives with microtia than expected. Conclusions: No new relevant associations between MDs and mAs were identified and few mAs seem to serve as predictors for specific MDs in the same infant. However, preauricular tags can predict the occurrence of microtia in other family members