Congenital diaphragmatic hernia: Two cases with early prenatal diagnosis and increased nuchal translucency

• Published in: Fetal diagnosis and therapy Vol. 18; no. 1; pp. 33 - 35
• Main Authors: VARLET, Francois, BOUSQUET, Frantz, CLEMENSON, Alix, CHAULEUR, Céline, KOPP-DUTOUR, Nathalie, TRONCHET, Mireille, TEYSSIER, Georges, PRIEUR, Fabienne, VARLET, Marie-Noëlle
• Format: Journal Article
• Language: English
• Published: Freiburg Karger 2003; Basel S. Karger AG; Paris
• Subjects: Abnormalities, Multiple - diagnostic imaging; Adult; Biological and medical sciences; Duodenum - abnormalities; Fatal Outcome; Female; Gynecology. Andrology. Obstetrics; Heart Defects, Congenital - diagnostic imaging; Hernia, Diaphragmatic - diagnostic imaging; Hernias, Diaphragmatic, Congenital; Humans; Male; Management. Prenatal diagnosis; Medical sciences; Pregnancy; Pregnancy. Fetus. Placenta; Ultrasonography, Prenatal; Cardiovascular disease; Congenital heart disease; Hernia; Prenatal; Fetal nuchal translucency; Respiratory muscle; Heart disease; Asplenia; Atresia; Intestinal disease; Fetus; Diagnosis; Sonography; Human; Congenital diaphragmatic hernia; Congenital; Duodenum; Respiratory disease; Duodenal atresia; Congenital disease; Case study; Concomitant disease; Malformation; Echography; Cytogenetics; Nuchal translucency; Digestive diseases; Diaphragm; Karyotype
• ISSN: 1015-3837; 1421-9964
• DOI: 10.1159/000066381

The early ultrasound prenatal diagnosis of congenital diaphragmatic hernia is uncommon and suggests a poor outcome. We report 2 cases diagnosed at 10 and 12 weeks' gestation, with increased fetal nuchal translucency thickness (4 and 11 mm) and associated abnormalities (complex heart defect in one and many malformations in the other, including duodenal atresia and asplenia). In 1 case, the baby was delivered vaginally at 36 weeks, but neonatal death occurred; the pregnancy was terminated at 15 weeks in the second case.