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Prenatal diagnosis of omphalocele with extracorporeal liver. | LitMetric

Prenatal diagnosis of omphalocele with extracorporeal liver.

Radiol Case Rep

Department of Obstetrics and Gynecology, Dr. Mohammad Hoesin General Hospital/Faculty of Medicine, Sriwijaya University, Palembang, Indonesia.

Published: December 2024

AI Article Synopsis

  • Omphalocele is a birth defect where abdominal organs protrude through a hole in the abdominal wall, often covered by a membrane, with a significant risk of being linked to chromosomal abnormalities like trisomy 13, 18, and 21.
  • It can be diagnosed during the late first trimester via ultrasound or elevated maternal serum alpha-fetoprotein levels, with good accuracy.
  • Larger omphaloceles, especially those with external liver protrusion, present unique challenges due to associated life-threatening conditions and require careful measurement for effective prenatal counseling and planning for postnatal care.

Article Abstract

Omphalocele is a congenital anomaly characterized by a structural defect in the abdominal wall that leads to the protrusion of the intestines or other abdominal organs covered by a protective membrane. Approximately 20%-50% of omphalocele cases are associated with trisomy 13, 18, and 21 and result in fetal death. Prenatal diagnosis of omphalocele can be made by late first trimester ultrasound with a sensitivity of 75% and specificity of 95%, or by elevated maternal serum alpha-fetoprotein concentration. Large omphaloceles (>5 cm) are generally present with extracorporeal liver (ECL) herniation, resulting from arrested lateral fold development and failure of abdominal wall closure in the first month of pregnancy. Omphalocele with ECL demonstrated a decreased incidence of congenital anomalies in comparison to those with intracorporeal liver. Nevertheless, ECL is linked to a greater number of life-threatening anatomical and amniotic volume abnormalities. We present a case of omphalocele with extracorporeal liver in 35-36 weeks' gestation and highlight the importance of defect size measurement and extracorporeal liver identification to aid prenatal counseling in making informed decisions about postnatal interventions.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11421223PMC
http://dx.doi.org/10.1016/j.radcr.2024.08.015DOI Listing

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