Congenital Omphalocele and Polyhydramnios: A Study of 52 Cases

Ozawa, Keiya; Ishikawa, Hiroshi; Maruyama, Y.; Nagata, Tomoko; Nagase, Hajime; Itani, Yoshio; Kurosawa, Kenji; Yamanaka, Michiko

doi:10.1159/000327542

Cited by 12 publications

(9 citation statements)

References 11 publications

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“…Along with polyhydramnios, special attention should be paid to the ultrasound examination of the fetus. This was observed by Ozawa et al [100] in a study involving the analysis of 52 fetuses. A quarter of them had trisomy (13 cases, 25%), particularly high rates of Edwards syndrome detected in 10 cases, while Patau syndrome in 2 cases and trisomy 21 in 1 case [100].…”

Section: Gastroschisissupporting

confidence: 58%

The Risk of Chromosomal Abnormalities in Cases of Minor and Major Fetal Anomalies in the Second Trimester

Beke¹,

Simonyi²

2020

Chromosomal Abnormalities

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Currently, noninvasive intrauterine screening for most chromosome abnormalities is available, but ultrasound examinations also play an important role during pregnancy, by drawing the attention to the suspect of a possible abnormality. Fetal ultrasound disorders can be classified into two major groups: (1) Major abnormalities are actually diagnosed malformations that are often associated with certain chromosome abnormalities but may be associated with other disorders (multiplex malformation) and may occur as isolated disorders (e.g., cardiac disorders, duodenal atresia, omphalocele, cystic hygroma (CH)). (2) Minor anomalies ("soft markers") are not abnormal in themselves but are mild abnormalities that may occur in normal pregnancy but also increase the risk of certain chromosome aberrations. The minor anomalies in the second trimester include thickened nuchal fold (NF), mild ventriculomegaly, pyelectasis, hyperechogenic bowels, hyperechogenic papillary muscle, and shorter long bones. Plexus choroid cyst which is classified as a minor marker does not increase the risk of Down syndrome but increases the risk of trisomy 18 (Edwards syndrome). We want to emphasize the importance of screening of minor and major ultrasound abnormalities in detecting chromosomal abnormalities in the second trimester.

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Section: Gastroschisissupporting

confidence: 58%

The Risk of Chromosomal Abnormalities in Cases of Minor and Major Fetal Anomalies in the Second Trimester

Beke¹,

Simonyi²

2020

Chromosomal Abnormalities

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“…Ozawa et al [14] examined whether in fetuses with exomphalos, polyhydramnios is an additional predictor for adverse outcome. In their study, polyhydramnios was found in about a third of the cases, and all pregnancies were complicated by additional anomalies.…”

Section: Discussionmentioning

confidence: 99%

Idiopathic Polyhydramnios and Postnatal Abnormalities

et al. 2012

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Objective: To investigate the proportion and type of fetal anomalies that are associated with polyhydramnios and to examine whether in cases with idiopathic polyhydramnios during the course of pregnancy and fetal anomalies only diagnosed after birth, antenatal characteristics differ. Methods: This was a retrospective study involving all pregnancies with polyhydramnios defined by a deepest pool of amniotic fluid ≥8 cm and a detailed ultrasound examination, a 75 g glucose tolerance test and a TORCH serology. Results: Between 2004 and 2010, 272 pregnancies fulfilled the inclusion criteria. In 89 (32.7%) and 65 (23.9%) cases, there was a fetal anomaly or diabetes. In 118 (43.4%) pregnancies, polyhydramnios was classified as idiopathic. In 11 (9.3%) of the 118 fetuses, an anomaly was found after birth, mainly gastrointestinal atresia. In these cases, median deepest pool of amniotic fluid was 9.6 cm, and median estimated fetal weight was at the 69th centile, whereas in cases without anomalies diagnosed after birth, median deepest pool was 9.0 cm and median estimated fetal weight at the 90th centile (Mann-Whitney U test: deepest pool p = 0.116, and estimated fetal weight centile p = 0.377). There was also no difference in the maternal and gestational age distribution of these cases (Mann-Whitney U test: maternal age p = 0.293, and gestational age p = 0.499). Conclusion: In about 40% of pregnancies, polyhydramnios remains unexplained during the course of pregnancy. In 10% of these cases, an anomaly will only be found after birth. In this group, antenatal characteristics such as amniotic fluid volume, estimated fetal weight or gestational and maternal age at the time of diagnosis do not help to detect these anomalies before birth.

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“…It was also reported that fetal omphalocele had high rate of associated anomalies when polyhydramnios was detected. 14 For example, Beckwith‐Wiedemann syndrome also shows omphalocele and polyhydramnios prenatally. In those cases, measuring the CHA by 3D ultrasonography to appreciate a coat‐hanger appearance of ribs can be helpful for differential prenatal diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Quantitative assessment of coat‐hanger ribs detected on three‐dimensional ultrasound for prenatal diagnosis of Kagami‐Ogata syndrome

Kuriki

Hosoya

Ozawa

et al. 2022

J of Obstet and Gynaecol

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Kagami‐Ogata syndrome (KOS14) is a rare disease characterized by omphalocele, polyhydramnios and a bell‐shaped thorax. Although the coat‐hanger appearance of the ribs on postnatal X‐rays is a key diagnostic finding of KOS14, its prenatal diagnosis remains challenging. We encountered a case of KOS14 diagnosed prenatally that showed omphalocele, polyhydramnios, and a bell‐shaped narrow thorax. The coat‐hanger angle (CHA) measured at the sixth thoracic vertebrae and the ribs using three‐dimensional (3D) ultrasonography was 39°, reflecting the coat‐hanger appearance of the ribs. Segmental uniparental disomy chromosome 14 (UPD(14)pat) was confirmed by a methylation analysis and microsatellite analysis after birth. The median CHA (minimum, maximum) in 25 normal fetuses was 19 (9, 26) degrees, and a sonographic CHA of 30° may be a border value for diagnosing KOS14. When the combination of omphalocele and polyhydramnios is found prenatally, 3D ultrasonography for CHA might aid in the differential diagnosis of KOS14.

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Congenital Omphalocele and Polyhydramnios: A Study of 52 Cases

Cited by 12 publications

References 11 publications

The Risk of Chromosomal Abnormalities in Cases of Minor and Major Fetal Anomalies in the Second Trimester

The Risk of Chromosomal Abnormalities in Cases of Minor and Major Fetal Anomalies in the Second Trimester

Idiopathic Polyhydramnios and Postnatal Abnormalities

Quantitative assessment of coat‐hanger ribs detected on three‐dimensional ultrasound for prenatal diagnosis of Kagami‐Ogata syndrome

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