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Anatomic parameters of omphaloceles and their association with anatomic, genetic, or syndromic malformations: a retrospective study

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Topic overview

This retrospective study of 162 omphalocele cases examines anatomical parameters and their correlation with associated malformations and genetic anomalies. Findings show that termination of pregnancy occurred more frequently with non-isolated omphaloceles, but omphalocele size and liver involvement did not predict associated anomalies in live births.

Key takeaways

  • Non-isolated omphaloceles (with cardiovascular/genitourinary malformations, genetic anomalies, or syndromes) had significantly higher termination rates.
  • Omphalocele size and liver involvement do not predict the presence or severity of associated malformations or chromosomal anomalies in live births.
  • 35% of omphalocele cases resulted in live birth, while 56% underwent termination due to associated major anomalies.
  • Cardiovascular and genitourinary malformations are the most common anatomical associations with omphalocele.
  • Anatomic parameters alone are insufficient for prenatal counseling; comprehensive genetic and anatomical evaluation is essential.

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How to cite: GlobalCastMD. Anatomic parameters of omphaloceles and their association with anatomic, genetic, or syndromic malformations: a retrospective study. GlobalCastMD Medical Library. 2024-05-23. https://dev.library.globalcastmd.com/article/8649?via_space=staycurrentmd

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