Omphalocele: a review of common genetic etiologies

Poaty, Henriette; Pelluard, Fanny; Diallo, Mama Sy; Ondima, Irène Patricia Lucienne; André, Gwenaëlle; Silou-Massamba, Jacques François

doi:10.1186/s43042-019-0040-3

Cited by 12 publications

(13 citation statements)

References 32 publications

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“…28 An omphalocele is usually associated with other major anomalies and aneuploidy and thus mandates a complete foetal evaluation including karyotype. 29 Possibility of a lethal lysosomal storage disorder as a cause of non-immune hydrops fetalis (NIHF) as seen in foetus 8 can be kept and a cordocentesis for enzyme analysis can be offered for such cases. 30…”

Section: Resultsmentioning

confidence: 99%

Profile of congenital defects in foetuses: incidence and risk factors: a prospective observational study

Jaiswal

Sehgal

Kaur

et al. 2021

Int J Reprod Contracept Obstet Gynecol

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Background: Perinatal outcome is one of the major indicators of evaluating health care system of a country. Congenital defects form important components of this parameter. The aim of the study was to determine the risk factors associated with congenital malformations in foetuses.Methods: All antenatal mothers whose foetuses were detected to have congenital defects on ultrasonography irrespective of period of gestation were enrolled for the study.Results: Eighty-six pregnant women with prenatally diagnosed fetal anomalies were enrolled for the study, out of which, 87.2% (N=75) belonged to 20-30 years age group. Majority of the subjects were educated till secondary school. Compared to primigravidae, the incidence of malformations was significantly higher in the multigravida group (69.8% vs 30.2% respectively). Thirty-eight (44.2%) mothers with malformed foetuses missed folic acid intake during early pregnancy. Only 40% mothers had prior history of abortions. Smoking was seen in 9% of subjects with malformations. Seven (8.3%) mothers had previous history of malformations and 5 (5.8%) reported a family history of malformations. Consanguineous marriage was observed in 4.7% of couples. Oligohydramnios or anhydramnios was associated with 11.6% foetuses, while polyhydramnios was seen in 53.5%. CNS malformations were seen in 57% of foetus, followed by genitourinary system malformations (9.2%).Conclusions: Tertiary level hospitals need to be upgraded with a dedicated multidisciplinary team of foetal medicine to cater to medical, clinical, surgical, preventive and therapeutic needs of malformed foetuses.

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Section: Resultsmentioning

confidence: 99%

Profile of congenital defects in foetuses: incidence and risk factors: a prospective observational study

Jaiswal

Sehgal

Kaur

et al. 2021

Int J Reprod Contracept Obstet Gynecol

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“…Omphalocele is a midline anterior abdominal wall defect in which there is herniation of the abdominal viscera covered by a thin membrane [19]. Other studies also reported omphalocele as the most common congenital abdominal wall defect [20,21]. The absence of facilities required for the assessment of chromosomal and other associated anomalies is the challenge encountered in the management of omphalocele.…”

Section: Discussionmentioning

confidence: 99%

Challenges in the Management of Congenital Malformations in Infants: A Single Centre Experience

Emeka¹,

Chikaodili²

2022

JCSR

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Background: Congenital malformations are structural anomalies that occur during intra-uterine life that may be identified before or at birth or later in life. Materials and Methods: This was a retrospective evaluation of the challenges encountered during the management of children with congenital anomalies at the pediatric surgery unit of Enugu State University Teaching Hospital (ESUTH), Enugu, Nigeria. Diagnosis of congenital anomalies was made based on clinical and radiological findings. Results: A total of 104 infants with congenital anomalies were evaluated during the study period. There was male predominance and majority of the patients were neonates. Seven days and 3 days were the mean age at diagnosis and median interval before presentation respectively. Hypospadias was the most common congenital anomaly and surgical site infection was the most common post-operative complication. Mortality occurred in about one-third of the patients. The general challenges encountered in the management of these patients could categorized as patient related, surgeon related or facility related. Conclusion:In developing countries, management of congenital anomalies is challenging and is fraught with difficulties. Modifiable factors such as late presentation and provision of facilities will improve outcome.

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“…At birth, it is approximately 2:10,000 3–7 . Omphalocele seems to be due to a primary failure of the lateral ventral folds, which form the primitive umbilical ring and an incomplete migration and differentiation of the mesodermal somites 3,8–10 . Since midgut herniation remains a physiological finding up to the 12th week of gestation, this is a differential diagnosis and isolated omphalocele cannot be reliably diagnosed on prenatal ultrasound until after 12 weeks 5,11–17 .…”

Section: Introductionmentioning

confidence: 99%

Turner syndrome‐omphalocele association: Incidence, karyotype, phenotype and fetal outcome

Bedei

Gloning²,

Luc

et al. 2023

Prenatal Diagnosis

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Objective Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith–Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes. Method Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound. Results 680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive. Conclusion TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester.

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Omphalocele: a review of common genetic etiologies

Cited by 12 publications

References 32 publications

Profile of congenital defects in foetuses: incidence and risk factors: a prospective observational study

Profile of congenital defects in foetuses: incidence and risk factors: a prospective observational study

Challenges in the Management of Congenital Malformations in Infants: A Single Centre Experience

Turner syndrome‐omphalocele association: Incidence, karyotype, phenotype and fetal outcome

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