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Birth defects that co-occur with non-syndromic gastroschisis and omphalocele.

ABSTRACT: Gastroschisis and omphalocele are the two most common abdominal wall birth defects, and epidemiologic characteristics and frequency of occurrence as part of a syndromic condition suggest distinct etiologies between the two defects. We assessed complex patterns of defect co-occurrence with these defects separately using the Texas Birth Defects Registry. We used co-occurring defect analysis (CODA) to compute adjusted observed-to-expected (O/E) ratios for all observed birth defect patterns. There were 2,998 non-syndromic (i.e., no documented syndrome diagnosis identified) cases with gastroschisis and 789 (26%) of these had additional co-occurring defects. There were 720 non-syndromic cases with omphalocele, and 404 (56%) had additional co-occurring defects. Among the top 30 adjusted O/E ratios for gastroschisis, most of the co-occurring defects were related to the gastrointestinal system, though cardiovascular and kidney anomalies were also present. Several of the top 30 combinations co-occurring with omphalocele appeared suggestive of OEIS (omphalocele, exstrophy of cloaca, imperforate anus, spinal defects) complex. After the exclusion of additional cases with features suggestive of OEIS in a post-hoc sensitivity analysis, the top combinations involving defects associated with OEIS (e.g., spina bifida) were no longer present. The remaining top combinations involving omphalocele included cardiovascular, gastrointestinal, and urogenital defects. In summary, we identified complex patterns of defects that co-occurred more frequently than expected with gastroschisis and omphalocele using a novel software platform. Better understanding differences in the patterns between gastroschisis and omphalocele could lead to additional etiologic insights.

SUBMITTER: Oluwafemi OO

PROVIDER: S-EPMC8259712 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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Birth defects that co-occur with non-syndromic gastroschisis and omphalocele.

Oluwafemi Omobola O OO Benjamin Renata H RH Navarro Sanchez Maria Luisa ML Scheuerle Angela E AE Schaaf Christian P CP Mitchell Laura E LE Langlois Peter H PH Canfield Mark A MA Swartz Michael D MD Scott Daryl A DA Northrup Hope H Ray Joseph W JW McLean Scott D SD Ludorf Katherine L KL Chen Han H Lupo Philip J PJ Agopian A J AJ

American journal of medical genetics. Part A 20200904 11

Gastroschisis and omphalocele are the two most common abdominal wall birth defects, and epidemiologic characteristics and frequency of occurrence as part of a syndromic condition suggest distinct etiologies between the two defects. We assessed complex patterns of defect co-occurrence with these defects separately using the Texas Birth Defects Registry. We used co-occurring defect analysis (CODA) to compute adjusted observed-to-expected (O/E) ratios for all observed birth defect patterns. There w ...[more]

PMID: 32885608

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Project description:PurposeInfants with anophthalmia or microphthalmia frequently have co-occurring birth defects. Nonetheless, there have been few investigations of birth defect patterns among these children. Such studies may identify novel multiple malformation syndromes, which could inform future research into the developmental processes that lead to anophthalmia/microphthalmia and assist physicians in determining whether further testing is appropriate.MethodsThis study includes cases with anophthalmia/microphthalmia identified by the Texas Birth Defects Registry from 1999 to 2014 without clinical or chromosomal diagnoses of recognized syndromes. We calculated adjusted observed-to-expected ratios for two - through five-way birth defect combinations involving anophthalmia/microphthalmia to estimate whether these combinations co-occur more often than would be expected if they were independent. We report combinations observed in ≥5 cases.ResultsWe identified 653 eligible cases with anophthalmia/microphthalmia (514 [79%] with co-occurring birth defects), and 111 birth defect combinations, of which 44 were two-way combinations, 61 were three-way combinations, six were four-way combinations and none were five-way combinations. Combinations with the largest observed-to-expected ratios were those involving central nervous system (CNS) defects, head/neck defects, and orofacial clefts. We also observed multiple combinations involving cardiovascular and musculoskeletal defects.ConclusionConsistent with previous reports, we observed that a large proportion of children diagnosed with anophthalmia/microphthalmia have co-occurring birth defects. While some of these defects may be part of a sequence involving anophthalmia/microphthalmia (e.g., CNS defects), other combinations could point to as yet undescribed susceptibility patterns (e.g., musculoskeletal defects). Data from population-based birth defect registries may be useful for accelerating the discovery of previously uncharacterized malformation syndromes.

Project description:ObjectiveTo systematically summarize the burden of gastroschisis and omphalocele in Sub-Saharan Africa.MethodsUsing the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, systematically reviewed and meta-analyzed literatures from Medline (PubMed), Cochrane Library, HINARI, and Google Scholar that investigated at the prevalence of major congenital abdominal wall malformation. The pooled prevalence of major abdominal wall defects was estimated using a weighted inverse variance random-effects model. The Q statistic and the I2 statistics were used to examine for heterogeneity among the included studies. The funnel plot and Egger's regression test were used to check for publication bias.ResultsA total of 1951 studies were identified; 897 from PubMed, 26 from Cochrane Library, 960 from Google Scholar, and 68 from other sources. Fourteen articles that met the eligibility criteria were selected for this meta-analysis with 242,462 total enrolled participants and 4693 births with congenital anomaly. The pooled prevalence of ompahalocele among congenital defect patients in Sub-Saharan Africa was found to be 4.47% (95% confidence interval: 3.04-5.90; I2 = 88.3%; p < 0.001). The pooled prevalence of omphalocele among births with congenital defect was found to be 4.04% (95% confidence interval: 2.62-5.46) in cross-sectional studies and 4.43% (95% confidence interval: 306-5.81) in cohort studies. The average prevalence of omphalocele among births with congenital defect was found to be 8% (95% confidence interval: 5.53-10.47) in Uganda and 6.65% (95% confidence interval: 4.18-9.13) in Nigeria. The pooled prevalence of gastroschisis among congenital birth defect in Sub-Saharan Africa was found to be 3.22% (95% confidence interval: 1.83-4.61; I2 = 33.1%; p = 0.175).ConclusionBased on this review, the pooled prevalence of omphalocele and gastroschisis in sub-Saharan Africa are high. Therefore, a perinatal screening program for congenital anomalies should be implemented. In addition, early referral of suspected cases of congenital anomalies is required for better management until advanced diagnostic centers are established in various locations of Sub-Saharan Africa.

Project description:Normal childhood growth is an indicator of good health, but data addressing the growth of children born with abdominal wall defects (AWDs) are limited. The detailed growth phenotypes of children born with gastroschisis or omphalocele are described and compared to peers without AWDs from birth to adolescence. Data from 183 gastroschisis and 144 omphalocele patients born between 1993 and 2017 were gathered from Finnish nationwide registers and electronic health records. Weight (n = 3033), length/height (n = 2034), weight-for-length (0-24 months, n = 909), and body mass index measures (2-15 years, n = 423) were converted into sex- and age-specific Z-scores. Linear mixed models were used for comparisons. Intrauterine growth failure was common in infants with gastroschisis. Birth weight Z-scores in girls and boys were - 1.2 (0.2) and - 1.3 (0.2) and length Z-scores - 0.7 (0.2) and - 1.0 (0.2), respectively (p < 0.001 for all comparisons to infants without AWDs). During early infancy, growth failure increased in infants with gastroschisis, and thereafter, catch-up growth was prominent and faster in girls than in boys. Gastroschisis children gained weight and reached their peers' weights permanently at 5 to 10 years. By 15 years or older, 30% of gastroschisis patients were overweight. Infants with omphalocele were born with a normal birth size but grew shorter and weighing less than the reference population until the teen-age years.ConclusionChildren with gastroschisis and omphalocele have distinct growth patterns from fetal life onwards. These growth trajectories may also provide some opportunities to modulate adult health.What is known• Intrauterine and postnatal growth failure can be seen frequently in gastroschisis and they often show significant catch-up growth later in infancy. It is assumed that part of the children with gastroschisis will become overweight during later childhood.What is new • The longitudinal growth of girls and boys with gastroschisis or omphalocele is described separately until the teenage years. The risk of gaining excessive weight in puberty was confirmed in girls with gastroschisis.

Project description:BackgroundEvaluation of quality of life (QoL) in paediatric surgical patients has not always received enough attention in the past. Our aim was to follow up patients with abdominal wall defects for a decade and (1) to analyse children's view on QoL and to analyse parent's view on QoL, (2) to evaluate satisfaction and psychological problems, (3) to assess present complaints including subjective aspects such as food intake, reduced appetite, pain in scar area and general abdominal pain and (4) verifiable clinical symptoms assessed through a physical examination and ultrasound. It was hypothesised that QoL would differ from gastroschisis (GS) and omphalocele (OC) children depending on the type of abdominal wall defect.Materials and methodsA retrospective case-control design was used to compare children with GS ( n = 36) and OC ( n = 18). A clinical examination, including abdominal inspection, palpation and auscultation of bowel sounds with abdominal ultrasound, was offered, combined with a structured interview and specific QoL questionnaire (KINDL ® ). The focus was on QoL, child development, present complaints and satisfaction with the cosmetic outcome.ResultsDuring clinical examinations with ultrasound, GS children were significantly more likely to have bowel loops stuck at the scar area ( P = 0.008) with bowel malrotation and abnormal appendix position, compared to OC children ( P = 0.037). They were significantly more likely to report irregular stools ( P = 0.02) but were satisfied with the cosmetic outcome of the abdominal skin scar in 81% of cases. The KINDL ® evaluation showed in the dimensions of QoL, namely 'body awareness', 'mental health', 'self-esteem', 'family', 'friends' and 'school', that there were no significant differences to healthy children. OC/GS parents were satisfied with their children's physical development and QoL, noting no limitations in normal daily activities. Parents of OC children reported suffering from OC/GS-associated problems ( P = 0.028) at the time point of interview.ConclusionSubjective QoL did not differ significantly between OC and GS children. The satisfaction with the cosmetic outcome of the abdominal skin scar was good. On ultrasound examination, adherent bowel loops and bowel malrotation with resulting stool irregularities affect GS children. OC children's parents reported suffering from OC/OS-associated problems, and all parents need to be educated about the symptoms of recurrent sub-ileus events or atypical appendicitis.

Project description:BackgroundGastroschisis is particularly prevalent among offspring of young women and has increased over recent decades. Although previous studies suggest that maternal alcohol consumption is associated with increased gastroschisis risk, none have explored whether maternal age modifies that association.ObjectiveThe objective of the study was to evaluate associations between self-reported maternal periconceptional alcohol consumption (1 month prior through the third month after conception) and risk of gastroschisis among offspring, by maternal age.MethodsWe used data from the National Birth Defects Prevention Study (NBDPS), a multi-site population-based case-control study. The analysis included 1450 gastroschisis cases and 11,829 unaffected liveborn controls delivered during 1997-2011 in ten US states. We estimated adjusted odds ratios (aOR) and 95% confidence intervals (CI) for the individual and joint effects of alcohol consumption and young maternal age at delivery (<25 years vs ≥25 years) on gastroschisis risk. We estimated the relative excess risk due to interaction (RERI) to quantify additive interaction.ResultsPericonceptional alcohol consumption was common regardless of maternal age (women <25 years: cases 38.8%, controls 29.3%; women ≥25: cases 43.5%, controls 39.5%). Compared with women ≥25 years who did not consume alcohol, we observed increased risk of gastroschisis among women <25 years, with higher estimates among those who consumed alcohol (women <25 years who did not consume alcohol. aOR 5.90, 95% CI 4.89, 7.11; women <25 years who did consume alcohol: aOR 8.21, 95% CI 6.69, 10.07). Alcohol consumption among women ≥25 years was not associated with gastroschisis (aOR 1.12, 95% CI 0.88, 1.42). This suggests super-additive interaction between alcohol consumption and maternal age (RERI -2.19, 95% CI 1.02, 3.36).ConclusionsPericonceptional alcohol consumption may disproportionately increase risk of gastroschisis among young mothers. Our findings support public health recommendations to abstain from alcohol consumption during pregnancy.

Project description:ObjectivesTo evaluate the association between drinking water pollutants and non-syndromic birth defects.DesignSystematic review and meta-analysis synthesis.Data sourcesA search of MEDLINE, EMBASE and Google Scholar was performed to review relevant citations reporting on birth defects in pregnancies exposed to water pollutants between January 1962 and April 2023.Eligibility criteriaProspective or retrospective cohort, population studies and case-control studies that provided data on exposure to drinking water pollutants around conception or during pregnancy and non-syndromic birth defects. We included studies published in the English language after the Minamata Bay disaster to reflect on contemporary concerns about the effect of environmental pollution and obstetric outcomes.Data extraction and synthesisTwo reviewers independently read the retrieved articles for content, data extraction and analysis. The methodological quality of studies was assessed using the Newcastle-Ottawa Scale. Included studies were assessed for comparability when considered for meta-analysis.Results32 studies met inclusion criteria including 17 cohorts (6 389 097 participants) and 15 case-control studies (47 914 cases and 685 712 controls). The most common pollutants investigated were trihalomethanes (11 studies), arsenic (5 studies) and nitrates (4 studies). The studies varied in design with different estimates of exposure, different stages of gestation age and different durations of exposure to pollutants. 21 articles reported data on any birth defects in their population or study groups and the others on specific birth defects including congenital heart defects, neural tube defects, orofacial defects and hypospadias. An increased risk or higher incidence of overall birth defects was reported by 9 studies and for specific birth defects by 14 studies. Eight studies compared the risk or incidence of birth defects with exposure to different concentrations of the pollutants. The analysis showed an association between higher levels of trihalomethanes (TTMs) and arsenic increase in major birth defects (lower vs higher exposure (OR 0.76, 95% CI 0.65 to 0.89; p<0.001 and OR 0.56, 95% CI 0.39 to 0.82; p<0.005, respectively).ConclusionThe evidence of an association between exposure to average levels of common drinking water chemical pollutants during pregnancy and an increased risk or incidence of birth defects is uncertain. Available evidence indicates that some common chemical pollutants currently found in drinking water may have a direct teratogenic effect at high maternal exposure, however, wide variation in methodology limits the interpretation of the results. Future prospective studies using standardised protocols comparing maternal levels during all three trimesters of pregnancy and cord blood levels at birth are needed to better understand the placental transfer of water pollutants and accurately evaluate individual fetal exposure to drinking water pollutants.Prospero registration numberCRD42018112524.

Dataset Information

Birth defects that co-occur with non-syndromic gastroschisis and omphalocele.

Publications

Birth defects that co-occur with non-syndromic gastroschisis and omphalocele.

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