Prevalence, timing of diagnosis and pregnancy outcome of abdominal wall defects after the introduction of a national prenatal screening program

Fleurke‐Rozema, H.; Kamp, K. van de; Pajkrt, Eva; Bilardo, C. M.; Snijders, R. J. M.

doi:10.1002/pd.5023

Cited by 40 publications

(53 citation statements)

References 26 publications

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“…Furthermore, major associated anomalies in prenatally detected cases of omphalocele usually will lead to a decision of termination of pregnancy. Several reports confirm a 30-61% termination rate in prenatally diagnosed omphalocele [38]. Another interesting observation is that associated anomalies appear to be more common with minor omphaloceles (2-5 cm) than giant omphaloceles (55% vs. 36%) [39].…”

Section: Prenatal Diagnosis and Carementioning

confidence: 87%

Major abdominal wall defects in the low- and middle-income setting: current status and priorities

2020

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Major congenital abdominal wall defects (gastroschisis and omphalocele) may account for up to 21% of emergency neonatal interventions in low-and middle-income countries. In many low-and middle-income countries, the reported mortality of these malformations is 30-100%, while in high-income countries, mortality in infants with major abdominal wall reaches less than 5%. This review highlights the challenges faced in the management of newborns with major congenital abdominal wall defects in the resource-limited setting. Current high-income country best practice is assessed and opportunities for appropriate priority setting and collaborations to improve outcomes are discussed.Publisher's Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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Section: Prenatal Diagnosis and Carementioning

confidence: 87%

Major abdominal wall defects in the low- and middle-income setting: current status and priorities

2020

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“…10 With high abortion rates, elevated risk of intrauterine fetal demise and high-perinatal mortality, less than 10% of antenatally detected omphalocele cases reach the stage of operative repair. 9,10,13 In Finland, every pregnant woman is entitled to have two antenatal ultrasound scans during pregnancy; first scan between 11 and 13 weeks of pregnancy, and the second in 19 to 21 weeks of gestation. 14 All omphalocele cases are treated at one of our five tertiary pediatric surgery centers (►Table 1) and antenatally detected cases are delivered at the unit.…”

Section: Introductionmentioning

confidence: 99%

Omphalocele in Finland from 1993 to 2014: Trends, Prevalence, Mortality, and Associated Malformations—A Population-Based Study

Raitio

Tauriainen²,

Syvänen

et al. 2020

Eur J Pediatr Surg

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Inroduction The aim of this study is to assess the changes in prevalence, mortality and termination pregnancy of omphalocele, and to identify associated anomalies. Materials and Methods A population-based nationwide register study. All cases with omphalocele were identified in the Finnish Register of Congenital Malformations and the Care Register for Health Care from 1993 to 2014 including live births, stillbirths, and terminations of pregnancy due to fetal anomalies. Associated anomalies were recorded and analyzed, and perinatal and infant mortality and prevalence were calculated. Results There were 600 cases with omphalocele including 229 live births, 39 stillbirths, and 332 (55%) abortions. Birth prevalence in Finland was 1.96 per 10,000 births with no consistent trend over time. However, total prevalence was much higher (4.71/10,000) because more than half of these families chose option for the termination of pregnancy. Omphalocele is often complicated with other anomalies; most commonly chromosomal abnormalities (9.3%), heart defects (6.3%), central nervous system anomalies (3.0%), gastrointestinal, and urogenital malformations (both 2.0%). Proportion of chromosomal and central nervous system abnormalities were even higher in terminated pregnancies. Overall infant mortality was 22%. Total 1-year survival rates for isolated omphalocele, cases with multiple anomalies and neonates with chromosomal defects were 80, 88, and 17%, respectively. Conclusion Omphalocele is a rare congenital anomaly, often associated with other malformations. Our data suggest that isolated cases may be more common than previously thought. In the absence of chromosomal defects, survival is reasonably good. Regardless, more than half of these pregnancies are often terminated.

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“…The occurrence of an omphalocele is not seldomly (80%) associated with additional anatomical and/or chromosomal abnormalities that may influence the postnatal outcome. 1,[3][4][5][6][7]21,26,27 We also know from previous studies 4,17 that in approximately 20% of prenatally assumed isolated cases, postnatally associated anomalies are detected. Although we found a statistically significant association between type of surgical closure and MCA prenatally, this was not confirmed postnatally.…”

Section: Discussionmentioning

confidence: 86%

“…1,[3][4][5][6] In the Netherlands, in up to 74% of cases, depending on the presence of associated anomalies and gestational age at diagnosis, the pregnancy is terminated. 7 A small (or minor) omphalocele can be closed primarily, ie, within 48 hours after birth. If the postnatal defect size equals or is larger than 5 cm, with liver (partly) protruding, 8 closure is usually delayed in view of the viscero-abdominal disproportion.…”

Section: Introductionmentioning

confidence: 99%

The validity of the viscero‐abdominal disproportion ratio for type of surgical closure in all fetuses with an omphalocele

et al. 2019

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ObjectiveTo determine the predictive value of the fetal omphalocele circumference/abdominal circumference (OC/AC) ratio for type of surgical closure and survival and to describe the trajectory of OC/AC ratio throughout gestation.MethodsThis cohort study included all live‐born infants prenatally diagnosed with an omphalocele in our tertiary centre (2000–2017) with an intention to treat. The OC/AC ratio and liver position were determined using 2D ultrasound at three periods during gestation (11–16, 17–26, and/or 30–38 weeks). Primary outcome was type of closure; secondary outcome was survival. In the secondary analyses, the predictive value of the OC/AC‐ratio trend for type of closure and survival was assessed.ResultsPrimary closure was performed in 37/63 (59%) infants, and 54/63 (86%) survived. The OC/AC ratio was predictive for type of closure and survival in all periods. Optimal cut‐off values for predicting closure decreased throughout gestation from 0.69 (11–16 weeks) to 0.63 (30–38 weeks). Repeated OC/AC‐ratio measurements were available in 33 (73%) fetuses. The trend of the OC/AC ratio throughout gestation was not significantly associated with type of closure. All infants without liver herniation underwent primary closure.ConclusionType of omphalocele surgical closure and survival can be predicted prenatally on the basis of the OC/AC ratio and liver herniation independent of associated anomalies.Learning objectiveThe reader will be able to use the OC/AC ratio throughout gestation in all omphalocele cases for prediction of type of closure and survival and thus patient counselling.

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Prevalence, timing of diagnosis and pregnancy outcome of abdominal wall defects after the introduction of a national prenatal screening program

Cited by 40 publications

References 26 publications

Major abdominal wall defects in the low- and middle-income setting: current status and priorities

Major abdominal wall defects in the low- and middle-income setting: current status and priorities

Omphalocele in Finland from 1993 to 2014: Trends, Prevalence, Mortality, and Associated Malformations—A Population-Based Study

The validity of the viscero‐abdominal disproportion ratio for type of surgical closure in all fetuses with an omphalocele

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