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Complex malformations involving the fetal body wall - definition and classification issues.
Julia Bijok1,2, Diana Massalska1,2, Anna Kucińska-Chahwan1,2
11st Department of Obstetrics and Gynecology, Centre of Postgraduate Medical Education, Warsaw, Poland.
Prenatal Diagnosis
|August 16, 2017
Summary
Complex fetal body wall malformations are common and often involve multiple organs. Karyotyping is recommended due to frequent chromosomal anomalies, highlighting the need for better classification systems.
Area of Science:
- Medical imaging
- Fetal medicine
- Genetics
Background:
- Complex malformations involving the fetal body wall present diagnostic challenges.
- Existing definitions may not fully capture the spectrum of these defects.
Purpose of the Study:
- To analyze sonographic features, cytogenetic results, and pregnancy outcomes in fetuses with complex body wall malformations.
- To evaluate current definitions against a large cohort.
Main Methods:
- Retrospective study of 96 fetuses with complex malformations (ventral wall, craniofacial, limbs, umbilical cord) from 1997-2015.
- Sonographic evaluation and cytogenetic analysis.
Main Results:
- Extensive ventral wall defects were most common (95.8%), frequently involving the liver, intestine, heart, and bladder.
- Associated anomalies included acrania (25.0%), encephalocoele (9.4%), limb anomalies (56.3%), and umbilical cord abnormalities (64.6%).
- Chromosomal aberrations were found in 13.3% of cases with conclusive cytogenetic results.
Conclusions:
- Chromosomal anomalies are frequent in these complex malformations, warranting karyotyping.
- A more precise classification system is needed to understand the pathophysiology of body wall defects.
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