Campaña Hebe, Rittler Monica, Poletta Fernando A, Gili Juan Antonio, Pawluk Mariela Soledad, Scala Sandra Constanza, Camelo Jorge Santiago López
Multidisciplinary Institute of Cellular Biology (IMBICE), La Plata, Argentina.
Hospital Materno Infantil Ramón Sardá, University of Buenos Aires, Argentina.
Am J Perinatol. 2014 Jun;31(6):447-54. doi: 10.1055/s-0033-1351660. Epub 2013 Aug 21.
Minor anomalies (mAs) are morphological features with little clinical relevance that have been mentioned as possible predictors of major defects (MDs).
To identify the preferential associations between selected MDs and mAs and to establish if mAs can serve as predictors for specific MDs.
Information of newborns 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 newborns with multiple malformations that included at least one of the selected MDs or mAs. The odds ratio and predictive values were calculated for significant associations, and concurrence rates in first degree relatives.
A total of 33 significant minor-major associations were identified. Single umbilical artery (SUA) and preauricular tags were the most frequent mAs; the former was associated with 10 MDs, the latter only with microtia. The highest positive predictive value was shown by SUA for anal atresia. Newborns with preauricular tags had significantly more relatives with microtia than expected.
No new relevant associations between MDs and mAs were identified and few mAs seem to serve as predictors for specific MDs in the same newborn. However, preauricular tags can predict the occurrence of microtia in other family members.
轻微异常（mAs）是临床相关性较小的形态学特征，已被提及可能是重大缺陷（MDs）的预测指标。
确定所选重大缺陷与轻微异常之间的优先关联，并确定轻微异常是否可作为特定重大缺陷的预测指标。
从拉丁美洲先天性畸形协作研究（ECLAMC）数据库中获取出生缺陷新生儿的信息。样本包括27247例存活和死产的新生儿，这些新生儿有多种畸形，其中至少包括一种所选的重大缺陷或轻微异常。计算显著关联的比值比和预测值，以及一级亲属中的并发率。
共确定了33种显著的轻微-重大关联。单脐动脉（SUA）和耳前赘生物是最常见的轻微异常；前者与10种重大缺陷相关，后者仅与小耳畸形相关。单脐动脉对肛门闭锁的阳性预测值最高。有耳前赘生物的新生儿患小耳畸形的亲属明显多于预期。
未发现重大缺陷与轻微异常之间有新的相关关联，似乎很少有轻微异常可作为同一新生儿特定重大缺陷的预测指标。然而，耳前赘生物可预测其他家庭成员小耳畸形的发生。
