Trisomy 18 in a First-Trimester Fetus with Thoraco-Abdominal Ectopia Cordis
| Autor: | Waldo Sepulveda, Ricardo Diaz-Serani |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Adult
0301 basic medicine medicine.medical_specialty Chorionic villus sampling Gestational Age Prenatal diagnosis Pentalogy of Cantrell 030105 genetics & heredity Ultrasonography Prenatal Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine Pregnancy Prenatal Diagnosis medicine Humans Ectopia Cordis 030219 obstetrics & reproductive medicine Omphalocele medicine.diagnostic_test business.industry Obstetrics Ectopia cordis General Medicine medicine.disease Abdominal ectopia cordis Pregnancy Trimester First Agenesis Pediatrics Perinatology and Child Health Female Trisomy business Hernia Umbilical Trisomy 18 Syndrome |
| Zdroj: | Fetal and Pediatric Pathology. 39:78-84 |
| ISSN: | 1551-3823 1551-3815 |
| DOI: | 10.1080/15513815.2019.1629132 |
| Popis: | Introduction: Fetuses with trisomy 18 will occasionally also have ectopia cordis. Case report: A routine ultrasound scan at 12 weeks' gestation revealed a large fetal anterior thoraco-abdominal wall defect with an extrathoracic heart and a liver-containing omphalocele. Chorionic villus sampling revealed a 47,XY,+18 karyotype. Additional anomalies detected after termination of the pregnancy included a cleft lip and palate and left radial agenesis. Conclusions: The prenatal diagnosis of ectopia cordis associated with aneuploidy can be made in the first trimester of pregnancy. An extrathoracic heart located in a liver-containing omphalocoele should be considered a thoraco-abdominal ectopia cordis rather than pentalogy of Cantrell. |
| Databáze: | OpenAIRE |
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