Minor anomalies: Preferential associations with major defects and predictive values. A study based on 23 major and 14 minor anomalies in more than 25,000 infants with birth defects

CAMPAÑA, H; RITTLER, M; GILI, JA; PAWLUK, M; SCALA, C; COMAS, B; POLETTA, FA; LOPEZ-CAMELO, JORGE SANTIAGO

JOURNAL OF PEDIATRICS

MOSBY-ELSEVIER

Año: 2012

0022-3476

Background: Minor anomalies are morphologic features with little clinical relevance that have been mentioned as possible predictors of major defects. Objective: The aims of the present work were to detect preferential associations between selected minor and major anomalies, to calculate predictive values, and to establish possible biological relationships. Study design: This study involved a series of newborn infants with birth defects, diagnosed in ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congenitas) maternity hospitals. The sample consisted of 27,247 live- and stillborn infants with multiple anomalies that included at least one of the selected major or minor anomalies. Results: Thirty-three significant minor-major associations were identified. Odds ratios and predictive values were calculated. Concurrence rates in first degree relatives were obtained in a second sample of infants with the selected anomalies as isolated defects. Single umbilical artery (SUA) and preauricular tags were the most frequent minor anomalies; the former was significantly associated with ten major defects, the latter showed such an association only with microtia. SUA showed a 3.5-fold risk for anal atresia and the highest positive predictive value. Infants with microtia had significantly more first-degree relatives with preauricular tags and infants with tags had significantly more relatives with microtia than expected, suggesting a genetic origin for a proportion of microtias. Conclusions: The knowledge that a minor anomaly is able to predict the presence of a major defect should prompt a proactive attitude toward infants who might require medical attention for hidden anomalies, thus reducing the possibility of adverse long-term effects due to late diagnosis.