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Structural birth defects associated with omphalocele and gastroschisis, Hawaii, 1986-2001

Mathias B Forrester1, Ruth D Merz

  • 1Hawaii Birth Defects Program, Honolulu, Hawaii, USA.

Congenital Anomalies
|May 3, 2008
PubMed

Insights

Abdominal wall defects (AWD) like omphalocele and gastroschisis are linked to specific co-occurring birth defects. These associated defects vary between omphalocele and gastroschisis, with some similarities noted.

Area of Science:

  • Medical Genetics
  • Pediatric Surgery
  • Birth Defects Research

Background:

  • Limited data exists on specific structural birth defects accompanying abdominal wall defects (AWD), namely omphalocele and gastroschisis.
  • Understanding these associations is crucial for comprehensive diagnosis and management of affected infants.

Purpose of the Study:

  • To determine the rates of 48 specific structural birth defects in infants with omphalocele and gastroschisis.
  • To compare these rates against expected frequencies in the general birth defect population.

Main Methods:

  • Utilized data from a population-based birth defects registry in Hawaii (1986-2001).
  • Calculated and compared the occurrence rates of 48 specific structural birth defects among AWD cases versus controls.

Main Results:

  • Omphalocele was associated with significantly higher rates of 23 (47.9%) structural defects across various organ systems.
  • Gastroschisis showed elevated rates for 8 (16.7%) defects, primarily neural tube defects (NTD), orofacial, gastrointestinal, and genitourinary anomalies.
  • Both AWD conditions shared increased rates for NTD, intestinal atresia/stenosis, intestinal malrotation, obstructive genitourinary defects, and limb reduction deformities.

Conclusions:

  • Specific structural birth defects occur more frequently with omphalocele and gastroschisis than expected.
  • The spectrum of associated defects differs between omphalocele and gastroschisis, despite some shared anomalies.
  • Further research with larger datasets is warranted to validate these findings due to the study's sample size.

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