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VACTERL association, epidemiologic definition and delineation

M Rittler1, J E Paz, E E Castilla

  • 1ECLAMC: Latin-American Collaborative Study of Congenital Malformations, WHO Collaborating Centre for the Prevention of Birth Defects, ECLAMC at Hospital Maternoinfantil Ramón Sardá, Buenos Aires, Brazil.

American Journal of Medical Genetics
|June 28, 1996
PubMed
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VACTERL (vertebral, anal, cardiac, tracheoesophageal, renal, and limb defects) is redefined, excluding cardiac defects but including related anomalies. Neural tube defects show a negative association with VACTERL.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Pediatric Congenital Anomalies

Background:

  • The VACTERL (vertebral, anal, cardiac, tracheoesophageal, renal, and limb) association is a complex congenital anomaly.
  • Previous definitions of VACTERL have varied, impacting diagnostic and research consistency.

Purpose of the Study:

  • To re-evaluate the definition of VACTERL based on observed component associations.
  • To investigate the relationship between VACTERL components and other congenital defects.
  • To clarify the inclusion criteria for VACTERL and its associated anomalies.

Main Methods:

  • Analysis of 524 infants with VACTERL components from a large birth cohort (1967-1990).
  • Comparison of observed anomaly rates with expected rates from 10,084 multiply malformed infants (casuistic method).

Related Experiment Videos

  • Statistical analysis to determine significant associations between VACTERL components and other defects.

    • Main Results:

    • Cardiac defects were found not to be a core part of VACTERL.
    • An 'extension' category for VACTERL was proposed, including single umbilical artery, ambiguous genitalia, abdominal wall defects, diaphragmatic hernia, and secondary anomalies.
    • Neural tube defects demonstrated a significant negative association with VACTERL.
    • The optimal number of VACTERL components for diagnosis (two or three) remained unclear.

    Conclusions:

    • The traditional definition of VACTERL requires revision, particularly regarding cardiac defects.
    • An expanded understanding of VACTERL includes associated anomalies and highlights negative associations with neural tube defects.
    • Further research is needed to refine VACTERL diagnostic criteria and understand its etiological underpinnings.