First-Trimester Sonography of Physiological Midgut Herniation and Early Diagnosis of Omphalocele

Les hépatocèles exclusives

“…Dans l'étude de Van Zalen-Sprock et al [2], le rapport de la circonférence de l'hépatocèle sur la circonférence abdominale parmi les foetus atteints d'une omphalocèle découverte au premier trimestre serait un facteur pronostique échographique. En effet, les foetus ayant un caryotype anormal ont un rapport moyen de 0,38 avec un sac contenant en majorité des anses digestives alors que ceux ayant un caryotype normal ont un rapport moyen de 0,88 et un sac contenant du foie.…”

Prenatal diagnosis of fetal omphalocele by ultrasound: A comparison of two centuries

“…As stated in a previous review, chromosomal abnormalities are common in 50e70% of omphalocele cases [11,15,20e23] whenever any of the following features are present: (1) associated anomalies; (2) absence of liver in the herniated sac; (3) hydramnios; or (4) oligohydramnios [11,15,16,20e23]. Chromosomal abnormalitiesdparticularly aneuploidy such as trisomy 18, 21, or 13dis present in 40e60% of fetuses with omphaloceles not containing liver [16]. Therefore, prenatal testing for fetal karyotyping should be offered for omphaloceles with (1) associated anomalies; (2) absence of liver in the herniated sac; (3) hydramnios; or (4) oligohydramnios [11,15,16,20e23].…”

When Closure Fails: What the Radiologist Needs to Know About the Embryology, Anatomy, and Prenatal Imaging of Ventral Body Wall Defects

“…Such differentiation is important, as non-liver-containing omphaloceles are associated with chromosomal abnormalities (eg, trisomies 13, 18, and 21) in up to 60% of cases, and therefore a karyotype test may be required. 22,28 In the literature, a variety of prevalence rates have been reported for omphalocele, ranging from 0.8-3.9 per 10,000 births, reflecting differences in level of ascertainment, and characteristics of the population and geographical region. 29,30 Concurrent malformations, including gastrointestinal and genitourinary anomalies, neural tube defects, and congenital heart defects are described in up to 74% of fetuses, either associated (Table 1) [31][32][33][34][35][36][37] or not associated with genetic conditions.…”