Perinatal outcomes of the antenatally diagnosed omphalocele cases: a single tertiary center experience

Akçabay, Çiğdem; Islek, Fatma; Arslan, Erol; Kayapınar, Masum; Evrüke, Cüneyt; Büyükkurt, Selim; Sucu, Mete

doi:10.5603/gp.a2021.0071

Cited by 2 publications

(2 citation statements)

References 17 publications

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“…Termination rates and intrauterine loss rates are high in these cases 14 . In the study of Akçabay et al, the termination rate was 52% and the live birth rate was 25% 15 . In our series, 50% of omphaloceles were terminated.…”

Section: Discussionmentioning

confidence: 41%

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Omphalocele and gastroschisis: An analysis of prenatal diagnosis and neonatal outcomes

Doğru,

Akkuş,

Ezveci

et al. 2023

Sonography

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BackgroundOmphalocele and gastroschisis are the most frequent congenital developmental abdominal wall defects. Prenatal diagnosis of omphalocele and gastroschisis is critical in the management of the pregnancy, affording patients the option of termination. This study aims to evaluate the prenatal diagnosis and postnatal outcomes of omphalocele and gastroschisis cases.Materials and MethodsThe cases of gastroschisis and omphalocele diagnosed prenatally and followed up at our university were evaluated retrospectively between January 2019 and January 2022. Maternal demographic and clinical characteristics and perinatal outcomes were compared between the cases.ResultsThis study evaluated 42 omphalocele and nine gastroschisis cases. All gastroschisis cases were isolated (p = .001). Additional anomalies were present in 61.9% of omphalocele cases. While two patients with gastroschisis refused the invasive procedure, the genetic results of the others were normal. The karyotype was abnormal in 42.9% of omphalocele cases (p = .008). Half of the omphalocele cases were terminated, and 38.1% (n = 8) of the terminated omphalocele cases were trisomy 18. The coexistence of multiple system anomalies and cystic hygroma was high in the terminated cases. In all cases of gastroschisis, only the intestines protruded from the abdominal wall into the amniotic fluid. The number of survivors of omphalocele was 23.8%. The median hospital stay was 25 and 14 days for gastroschisis and omphalocele, respectively.ConclusionPrenatal diagnosis of omphalocele and gastroschisis is critical in pregnancy management. The presence of associated anomalies determines the prognosis of omphalocele and gastroschisis.

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Section: Discussionmentioning

confidence: 41%

“…14 In the study of Akçabay et al, the termination rate was 52% and the live birth rate was 25%. 15 In our series, 50% of omphaloceles were terminated. Live birth was 85% in the remaining cases.…”

Section: Discussionmentioning

confidence: 55%

Omphalocele and gastroschisis: An analysis of prenatal diagnosis and neonatal outcomes

Doğru,

Akkuş,

Ezveci

et al. 2023

Sonography

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Ultrasonographic characteristics, genetic features, and maternal and fetal outcomes in fetuses with omphalocele in China: a single tertiary center study

Que,

Cai,

Yang

et al. 2023

BMC Pregnancy Childbirth

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Background Patients with omphalocele, a midline abdominal wall defect at the umbilical cord base, have a low survival rate. However, the long-term outcomes of fetuses with prenatally diagnosed omphalocele have scarcely been studied. Therefore, we investigated the ultrasonographic features, genetic characteristics, and maternal and fetal outcomes of fetuses with omphalocele and provided a reference for the perinatal management of such cases. Methods A total of 120 pregnant females with fetal omphalocele were diagnosed using prenatal ultrasonography at the Fujian Provincial Maternity and Child Health Hospital from January 2015 to March 2022. Amniotic fluid or cord blood samples were drawn at different gestational weeks for routine karyotype analysis, chromosomal microarray analysis (CMA) detection, and whole exome sequencing (WES). The maternal and fetal outcomes were followed up. Results Among the 120 fetuses, 27 were diagnosed with isolated omphalocele and 93 with nonisolated omphalocele using prenatal ultrasonography. Cardiac anomalies were the most observed cause in 17 fetuses. Routine karyotyping and CMA were performed on 35 patients, and chromosomal abnormalities were observed in five patients, trisomy 18 in three, trisomy 13 in one, and chromosome 8–11 translocation in one patient; all were non-isolated omphalocele cases. Six nonisolated cases had normal CMA results and conventional karyotype tests, and further WES examination revealed one pathogenic variant and two suspected pathogenic variants. Of the 120 fetuses, 112 were successfully followed up. Eighty of the 112 patients requested pregnancy termination. Seven of the cases died in utero. A 72% 1-year survival rate was observed from the successful 25 live births. Conclusion The prognosis of fetuses with nonisolated omphalocele varies greatly, and individualized analysis should be performed to determine fetal retention carefully. Routine karyotyping with CMA testing should be provided for fetuses with omphalocele. WES is an option if karyotype and CMA tests are normal. If the fetal karyotype is normal and no associated abnormalities are observed, fetuses with omphalocele could have a high survival rate, and most will have a good prognosis.

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Perinatal outcomes of the antenatally diagnosed omphalocele cases: a single tertiary center experience

Abstract: This article has been peer reviewed and published immediately upon acceptance.It is an open access article, which means that it can be downloaded, printed, and distributed freely, provided the work is properly cited. Articles in "Ginekologia Polska" are listed in PubMed.

Cited by 2 publications

References 17 publications

Omphalocele and gastroschisis: An analysis of prenatal diagnosis and neonatal outcomes

Omphalocele and gastroschisis: An analysis of prenatal diagnosis and neonatal outcomes

Ultrasonographic characteristics, genetic features, and maternal and fetal outcomes in fetuses with omphalocele in China: a single tertiary center study

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