Familial recurrence of gastroschisis

Köhl, Michael; Wiesel, Awi; Schier, Felix

doi:10.1016/j.jpedsurg.2010.05.003

Cited by 30 publications

(6 citation statements)

References 70 publications

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“…The majority of gastroschisis cases are sporadic events; however, a few studies have observed a familial recurrence of cases, [60][61][62] indicating a genetic contribution to gastroschisis. An early study by Torfs et al found that among the 127 families studied, 4.7% had a family history of gastroschisis with a sibling recurrence risk of 3.5%.…”

Section: Genetic Risk Factors Of Gastroschisismentioning

confidence: 99%

“…60 A recent study examining all population-based studies of familial cases observed a recurrence risk of 2.4%; though, the authors note that this is likely an underestimate due to higher-degree relatives missing in some studies. 62 Although the possibility of shared social, lifestyle, and environmental factors among family members cannot be excluded, the genetic role in the etiology of gastroschisis is further supported by studies observing an association with chromosome abnormalities and gene polymorphisms. One study using data from 24 birth defects surveillance systems reported that 1.2% of infants with gastroschisis had chromosome abnormalities, 38 while another study reported 2% of gastroschisis infants had associated chromosomal syndromes.…”

Section: Genetic Risk Factors Of Gastroschisismentioning

confidence: 99%

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Neighborhood-level Socioeconomic Position During Early Pregnancy and Risk of Gastroschisis

Neo¹,

Desrosiers²,

Martin³

et al. 2023

Epidemiology

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Dayna Tulsi Neo: Neighborhood-level socioeconomic position during early pregnancy and the risk of gastroschisis (Under the direction of Andrew F. Olshan) Background: Studies have shown that pregnant women in low socioeconomic neighborhoods are at a higher risk of adverse pregnancy outcomes, including birth defects.However, few studies have explored this association with gastroschisis. Using data from the National Birth Defects Prevention Study (NBDPS), we investigated the association between neighborhood-level socioeconomic position (nSEP) during early pregnancy and the risk of gastroschisis, and evaluated whether nSEP modifies the associations between maternal age at conception and pre-pregnancy body mass index (BMI) and gastroschisis.Methods: We analyzed data from singleton case infants diagnosed with gastroschisis and singleton non-malformed control infants delivered between 1997 and 2011. To characterize nSEP, two principal component analysis (PCA)-derived indices were constructed including the Neighborhood Deprivation Index (NDI) and a Neighborhood-level Socioeconomic Position Index (nSEPI). Maternal neighborhood was defined as the self-reported address mothers lived at the longest between one month prior to conception to the third month of pregnancy. Generalized estimating equations were used to estimate odds ratios (ORs) and 95% confidence intervals (95% CIs), and relative excess risks due to interaction (RERI) were calculated to assess modification by nSEP on the additive scale.

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Section: Genetic Risk Factors Of Gastroschisismentioning

confidence: 99%

Section: Genetic Risk Factors Of Gastroschisismentioning

confidence: 99%

Neighborhood-level Socioeconomic Position During Early Pregnancy and Risk of Gastroschisis

Neo¹,

Desrosiers²,

Martin³

et al. 2023

Epidemiology

View full text Add to dashboard Cite

show abstract

“…Sixth, for some characteristics such as hypertension, the number of patients was small and interpretability of effect is thus limited. Finally, given that (i) there may be a small increased risk of gastroschisis recurrence 35 and (ii) this dataset cannot link sibling pregnancies, there may be a small clustering effect that cannot be accounted for. Strengths of the study include: (i) a large dataset of cases of gastroschisis which approaches the full national sample of births towards the end of the study period, (ii) the ability to restrict women with other potential indications for cesarean, and (iii) sensitivity analyses restricted to states using the revised birth certificate as of 2009, allowing us to control for the changing sampling frame.…”

Section: Commentmentioning

confidence: 99%

Gastroschisis: epidemiology and mode of delivery, 2005–2013

Friedman

Ananth

Siddiq

et al. 2016

American Journal of Obstetrics and Gynecology

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BACKGROUND Gastroschisis is a severe congenital anomaly the etiology of which is unknown. Research evidence supports attempted vaginal delivery for pregnancies complicated by gastroschisis in the absence of obstetric indications for cesarean delivery. OBJECTIVE The objectives of the study evaluating pregnancies complicated by gastroschisis were to: (i) determine the proportion of women undergoing planned cesarean versus attempted vaginal delivery; and (ii) provide up-to-date epidemiology on risk factors associated with this anomaly. STUDY DESIGN This population-based study of United States natality records from 2005–2013 evaluated pregnancies complicated by gastroschisis. Women were classified based on whether they attempted vaginal delivery or underwent a planned cesarean (n=24,836,777). Obstetrical, medical, and demographic characteristics were evaluated. Multivariable log-linear regression models were developed to determine factors associated with mode of delivery. Factors associated with the occurrence of the anomaly were also evaluated in log-linear models. RESULTS Of 5,985 pregnancies with gastroschisis, 63.5% (n=3,800) attempted vaginal delivery and 36.5% (n=2,185) underwent planned cesarean delivery. The rate of attempted vaginal delivery increased from 59.7% in 2005 to 68.8% in 2013. Earlier gestational age and Hispanic ethnicity were associated with lower rates of attempted vaginal delivery. Factors associated with the occurrence of gastroschisis included young age, smoking, high educational attainment, and being married. Protective factors included chronic hypertension, black race, and obesity. The incidence of gastroschisis was 3.1 per 10,000 pregnancies and did not increase during the study period. CONCLUSION Attempted vaginal delivery is becoming increasingly prevalent for women with a pregnancy complicated by gastroschisis. Recommendations from research literature findings may be diffusing into clinical practice. A significant proportion of women with this anomaly still deliver by planned cesarean suggesting further reduction of surgical delivery for this anomaly is possible.

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“…The appearance of the umbilicus (ring and cord) is normal. Although generally thought to be a result of environmental factors, familial GS does occur, and the estimated familial recurrence risk of 2.4 to 4.7% (Torfs and Curry, 1993 ; Kohl et al, 2010 ), indicates that there is a genetic contribution in some cases.…”

Section: Discussionmentioning

confidence: 99%

Dermatan sulfate epimerase 1 deficient mice as a model for human abdominal wall defects

Gustafsson

Stachtea

Maccarana

et al. 2014

Birth Defects Research

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BackgroundDermatan sulfate (DS) is a highly sulfated polysaccharide with a variety of biological functions in extracellular matrix organization and processes such as tumorigenesis and wound healing. A distinct feature of DS is the presence of iduronic acid, produced by the two enzymes, DS-epimerase 1 and 2, which are encoded by Dse and Dsel, respectively.MethodsWe have previously shown that Dse knockout (KO) mice in a mixed C57BL/6–129/SvJ background have an altered collagen matrix structure in skin. In the current work we studied Dse KO mice in a pure NFR genetic background.ResultsDse KO embryos and newborns had kinked tails and histological staining revealed significantly thicker epidermal layers in Dse KO mice when compared with heterozygote (Het) or wild-type (WT) littermates. Immunochemical analysis of the epidermal layers in newborn pups showed increased expression of keratin 5 in the basal layer and keratin 1 in the spinous layer. In addition, we observed an abdominal wall defect with herniated intestines in 16% of the Dse KO embryos. Other, less frequent, developmental defects were exencephaly and spina bifida.ConclusionWe conclude that the combination of defective collagen structure in the dermis and imbalanced keratinocyte maturation could be responsible for the observed developmental defects in Dse KO mice. In addition, we propose that Dse KO mice could be used as a model in pathogenetic studies of human fetal abdominal wall defects. Birth Defects Research (Part A) 100:712–720, 2014. © 2014 Wiley Periodicals, Inc.

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Familial recurrence of gastroschisis

Cited by 30 publications

References 70 publications

Neighborhood-level Socioeconomic Position During Early Pregnancy and Risk of Gastroschisis

Neighborhood-level Socioeconomic Position During Early Pregnancy and Risk of Gastroschisis

Gastroschisis: epidemiology and mode of delivery, 2005–2013

Dermatan sulfate epimerase 1 deficient mice as a model for human abdominal wall defects

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