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Pathogenetic classification of a series of 27,145 consecutive infants with congenital defects

M L Martínez-Frías1, E Bermejo, J L Frías

  • 1Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain. luisama@eucmos.sim.ucm.es

American Journal of Medical Genetics
|March 4, 2000
PubMed

Insights

This study analyzed 27,145 infants with congenital defects, classifying them by errors of morphogenesis. Malformations were most common, but isolated disruptions occurred more frequently than isolated deformations.

Area of Science:

  • Pediatrics
  • Medical Genetics
  • Developmental Biology

Background:

  • Congenital defects are a significant concern in pediatrics.
  • Understanding the pathogenetic types of errors of morphogenesis is crucial for diagnosis and management.
  • Previous classifications have provided a framework for categorizing these anomalies.

Purpose of the Study:

  • To classify a large cohort of infants with congenital defects based on established pathogenetic types of errors of morphogenesis.
  • To determine the frequencies of malformations, deformations, and disruptions, both in isolation and in combination.
  • To highlight the clinical value of understanding these frequencies in evaluating congenital anomalies.

Main Methods:

  • Analysis of a consecutive series of 27,145 infants with congenital defects.
  • Classification of defects according to the pathogenetic types defined by the International Working Group.
  • Statistical calculation of the prevalence of different categories of errors of morphogenesis.

Main Results:

  • Malformations were identified in 97.94% of infants with congenital defects.
  • Deformations occurred in 3.92% and disruptions in 1.65% of infants.
  • Isolated disruptions (1.27%) were more common than isolated deformations (0.59%).

Conclusions:

  • Malformations are the most prevalent type of error of morphogenesis in infants.
  • While deformations are more common overall than disruptions, isolated disruptions are more frequent than isolated deformations.
  • Knowledge of the frequencies of these pathogenetic types is essential for the comprehensive evaluation of infants with congenital anomalies.

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