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Minor anomalies: can they predict specific major defects? A study based on 23 major and 14 minor anomalies in over

Hebe Campaña1, Monica Rittler2, Fernando A Poletta3

  • 1Multidisciplinary Institute of Cellular Biology (IMBICE), La Plata, Argentina.

American Journal of Perinatology
|August 23, 2013
PubMed
Abstract

Insights

Minor anomalies (mAs) are rarely predictors of major defects (MDs) in newborns. However, preauricular tags can indicate a higher risk of microtia in family members.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Pediatric Medicine

Background:

  • Minor anomalies (mAs) are morphological features with limited clinical significance.
  • mAs have been investigated as potential predictors for major defects (MDs).

Purpose of the Study:

  • To identify specific associations between selected MDs and mAs.
  • To determine if mAs can predict the occurrence of specific MDs.

Main Methods:

  • Utilized data from the ECLAMC database, including 27,247 newborns with multiple malformations.
  • Calculated odds ratios and predictive values for significant associations.
  • Assessed concurrence rates in first-degree relatives.

Main Results:

  • Identified 33 significant minor-major associations.
  • Single umbilical artery (SUA) was linked to 10 MDs, while preauricular tags were associated with microtia.
  • SUA showed the highest positive predictive value for anal atresia; preauricular tags predicted microtia in relatives.

Conclusions:

  • Few mAs serve as reliable predictors for MDs within the same newborn.
  • Preauricular tags demonstrate predictive value for microtia in family members.

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