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Trisomy 18 in a First-Trimester Fetus with Thoraco-Abdominal Ectopia Cordis

Ricardo Diaz-Serani1, Waldo Sepulveda2

  • 1Department of Obstetrics & Gynecology, Maternal-Fetal Medicine Unit, Clinica BUPA, Santiago, Chile.

Fetal and Pediatric Pathology
|June 20, 2019
PubMed

Insights

First-trimester diagnosis of ectopia cordis in fetuses with trisomy 18 is possible. This condition, presenting as an extrathoracic heart in a liver-containing omphalocele, is classified as thoraco-abdominal ectopia cordis.

Area of Science:

  • Medical genetics
  • Prenatal diagnosis
  • Fetal medicine

Background:

  • Ectopia cordis, a rare congenital anomaly, is sometimes observed in fetuses with trisomy 18.
  • Accurate prenatal diagnosis is crucial for management and counseling.

Keywords:
Anterior abdominal wall defectectopia cordisfetal ultrasoundfirst trimesteromphalocelepentalogy of Cantrellprenatal diagnosistrisomy 18

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