Public health priorities for gastroschisis: Summary of a meeting sponsored by the Centers for Disease Control and Prevention and the March of Dimes.

BACKGROUND: Gastroschisis has increased worldwide over several decades; however, there are significant gaps in understanding risk factors for development of the defect, particularly those that might be modifiable. Despite advances in survival, little is known about longer-term outcomes for affected individuals. METHODS: On April 27- and 28, 2023, the National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention (CDC) and March of Dimes sponsored a meeting entitled "Public Health Priorities for Gastroschisis". The meeting goals were to review current knowledge on gastroschisis, discuss research gaps, and identify future priorities for public health surveillance, research, and action related to gastroschisis. Meeting participants encompassed a broad range of expertise and experience, including public health, clinical care of individuals with gastroschisis, affected individuals and families, and representatives from professional organizations and federal agencies. RESULTS: Several goals were identified for future public health surveillance and research, including focused theory-driven research on risk factors and increased study of longer-term effects of gastroschisis through improved surveillance. Certain public health actions were identified, that which could improve the care of affected individuals, including increased education of providers and enhanced resources for patients and families. CONCLUSIONS: These efforts may lead to an improved understanding of pathogenesis, risk factors, and outcomes and to improved care throughout the lifespan.

Folic acid supplementation and risk for fetal abdominal wall defects in China: results from a large population-based intervention cohort study.

Folic acid (FA) can reduce the risk for selected birth defects other than neural tube defects. We examined whether FA has preventive effects against fetal abdominal wall defects (AWD) in a unique intervention cohort in China. Birth outcomes of 247 831 singleton births from a population-based cohort study with detailed pre-conceptional FA intake information were collected in China in 1993-1996. Information on births at 20 complete gestational weeks, including live births, stillbirths and pregnancy terminations, and all structural birth defects regardless of gestational week were recorded. The birth prevalence of omphalocele, gastroschisis and total fetal AWD was classified by maternal FA supplementation. The prevalence of total AWD was 4·30 per 10 000 births among women who took FA compared with 13·46 per 10 000 births among those who did not take FA in northern China and 6·28 and 5·18 per 10 000 births, respectively, in southern China. The prevalence of omphalocele was 0·54 per 10 000 births among women who took FA compared with 3·74 per 10 000 births among those who did not take FA in northern China and 1·79 and 1·44 per 10 000 births, respectively, in southern China. FA supplementation significantly prevented total AWD in multivariate analysis (relative risk 0·26, 95 % CI 0·11, 0·61) in northern China, although no preventive effect of FA on AWD was observed in southern China. FA supplementation successfully reduced the prevalence of AWD in northern China.

Outcomes of gastroschisis early delivery: A systematic review and meta-analysis.

BACKGROUND/PURPOSE: Elective preterm delivery (EPD) of a fetus with gastroschisis may prevent demise and ameliorate intestinal injury. While the literature on optimal timing of delivery varies, we hypothesize that a potential benefit may be found with EPD. METHODS: A meta-analysis of publications describing timing of delivery in gastroschisis from 1/1990 to 8/2016 was performed, including studies where either elective preterm delivery (group 1, G1) or preterm gestational age (GA) (group 2, G2) were evaluated against respective comparators. The following outcomes were analyzed: total parenteral nutrition (TPN), first enteral feeding (FF), length of stay, ventilator days, fetal demise, complex gastroschisis, sepsis, and death. RESULTS: Eighteen studies describing 1430 gastroschisis patients were identified. G1 studies found less sepsis (p<0.01), fewer days to FF (p=0.03), and 11days less of TPN (p=0.07) in the preterm cohort. Comparatively, G2 studies showed less days to FF in term GA (p=0.02).Whereas G1 BWs were similar, G2 preterm had a significantly lower BW compared to controls (p=0.001). CONCLUSIONS: Elective preterm delivery appears favorable with respect to feeding and sepsis. However, benefits are lost when age is used as a surrogate of EPD. A randomized, prospective, multi-institutional trial is necessary to delineate whether EPD is advantageous to neonates with gastroschisis. TYPE OF STUDY: Treatment study. LEVEL OF EVIDENCE: Level III.

Prevalence trends of selected major birth defects: A multi-state population-based retrospective study, United States, 1999 to 2007.

BACKGROUND: We evaluated selected birth defects over a 9-year period to assess prevalence trends by selected maternal and infant factors. METHODS: Data were pooled from 11 population-based birth defects surveillance programs in the United States for children born between 1999 and 2007. Overall prevalence, as well as 3-year interval prevalence, was calculated for 26 specific birth defects, stratified by maternal age, maternal race/ethnicity, and infant sex. Average annual percent change (AAPC) was calculated for each birth defect. Poisson regression was used to determine change in AAPC, and joinpoint regression to identify breakpoints and changes in slope for prevalence of each defect over time. RESULTS: Between 1999 and 2001 and 2005 and 2007, four birth defects increased by 10% or more: coarctation of the aorta (17%), gastroschisis (83%), omphalocele (11%), and Down syndrome (10%). Among mothers <20 years of age, the gastroschisis AAPC increased 10.1% overall and, cross-classified by maternal race/ethnicity, the AAPC for mothers <20 years increased 9.2%, 25.7%, and 7.7% among non-Hispanic white (NHW), non-Hispanic black (NHB), and Hispanic mothers, respectively. A small increase in Down syndrome (AAPC 4.4%) was found for NHB mothers ≥35 years. CONCLUSION: No significant trends in prevalence were identified for most birth defects. Gastroschisis prevalence increased significantly among NHW and NHB mothers <20 years of age, with the greatest increases in NHB mothers. Prevalence of Down syndrome among NHB mothers ≥35 years also increased slightly. Stratified results may suggest avenues of research in birth defect etiology and in evaluating prevention efforts. Birth Defects Research 109:1442-1450, 2017.© 2017 Wiley Periodicals, Inc.

Specific SSRIs and birth defects: Bayesian analysis to interpret new data in the context of previous reports.

OBJECTIVE: To follow up on previously reported associations between periconceptional use of selective serotonin reuptake inhibitors (SSRIs) and specific birth defects using an expanded dataset from the National Birth Defects Prevention Study. DESIGN: Bayesian analysis combining results from independent published analyses with data from a multicenter population based case-control study of birth defects. SETTING: 10 centers in the United States. PARTICIPANTS: 17,952 mothers of infants with birth defects and 9857 mothers of infants without birth defects, identified through birth certificates or birth hospitals, with estimated dates of delivery between 1997 and 2009. EXPOSURES: Citalopram, escitalopram, fluoxetine, paroxetine, or sertraline use in the month before through the third month of pregnancy. Posterior odds ratio estimates were adjusted to account for maternal race/ethnicity, education, smoking, and prepregnancy obesity. MAIN OUTCOME MEASURE: 14 birth defects categories that had associations with SSRIs reported in the literature. RESULTS: Sertraline was the most commonly reported SSRI, but none of the five previously reported birth defects associations with sertraline was confirmed. For nine previously reported associations between maternal SSRI use and birth defect in infants, findings were consistent with no association. High posterior odds ratios excluding the null value were observed for five birth defects with paroxetine (anencephaly 3.2, 95% credible interval 1.6 to 6.2; atrial septal defects 1.8, 1.1 to 3.0; right ventricular outflow tract obstruction defects 2.4, 1.4 to 3.9; gastroschisis 2.5, 1.2 to 4.8; and omphalocele 3.5, 1.3 to 8.0) and for two defects with fluoxetine (right ventricular outflow tract obstruction defects 2.0, 1.4 to 3.1 and craniosynostosis 1.9, 1.1 to 3.0). CONCLUSIONS: These data provide reassuring evidence for some SSRIs but suggest that some birth defects occur 2-3.5 times more frequently among the infants of women treated with paroxetine or fluoxetine early in pregnancy.

Better diet quality before pregnancy is associated with reduced risk of gastroschisis in Hispanic women.

BACKGROUND: Gastroschisis is unique because of its substantial risk in pregnancies of adolescent women. Adolescents may have poor diet quality, which places them at higher risk of gastroschisis. OBJECTIVE: We investigated whether better maternal diet quality, measured by 2 different indices, reduced the risk of gastroschisis. METHODS: We used case-control data from the National Birth Defects Prevention Study to investigate maternal diet quality among 1125 gastroschisis cases and 9483 controls (estimated delivery dates between 1997 and 2009). Cases were ascertained from 10 U.S. birth defect surveillance systems. Control subjects were randomly selected from birth certificates or hospital records. Using a 58-item food-frequency questionnaire, interviewers queried mothers about their average food and cereal intake during the year before conception. Diet quality scores [Diet Quality Index (DQI) and Mediterranean diet score (MDS)] were calculated using specific components. Women were excluded if they consumed <500 or >5000 kcal/d, reported pregestational diabetes, or had >1 missing food item. Quartile-specific adjusted ORs (aORs) were calculated, using as reference the lowest quartile. RESULTS: Overall, we observed a statistically significant decrease with increasing diet quality for both the DQI and MDS. When stratified by maternal race/ethnicity, this finding was confined to Hispanic women. Among Hispanic women, the risk of gastroschisis decreased significantly with increasing DQI quartiles: quartile 2, aOR = 0.58 (95% CI: 0.40, 0.86); quartile 3, aOR = 0.52 (95% CI: 0.36, 0.79); and quartile 4, aOR = 0.48 (95% CI: 0.32, 0.76). Increasing diet quality, as measured by the MDS, showed reduced risk of gastroschisis among women, mostly Hispanic, who were born outside the United States: quartile 2, aOR = 0.62 (95% CI: 0.33, 1.16); quartile 3, aOR = 0.51 (95% CI: 0.28, 0.94); and quartile 4, aOR = 0.50 (95% CI: 0.28, 0.90). CONCLUSIONS: Increasing diet quality was associated with a reduced risk of gastroschisis only among Hispanic and foreign-born women, but these findings require replication.

Gastrosquisis inviable neonatal / Non-viable neonatal gastroschisis

No disponible

Risk stratification in gastroschisis: can prenatal evaluation or early postnatal factors predict outcome?

PURPOSE: The prenatal or postnatal factors that predict complex gastroschisis in patients (atresia, volvulus, necrotic bowel and bowel perforation) remain controversial. We evaluated the prognostic value of prenatal ultrasonographic parameters and early postnatal factors in predicting clinical outcomes. METHODS: We analyzed maternal and neonatal records of 46 gastroschisis patients treated from 1998 to 2007. Information regarding demographics, prenatal ultrasound data when available, intrapartum and postnatal course was abstracted from medical records. Outcome variables included survival, ventilator days, TPN days, time to full enteral feeds, complications and length of stay. Univariate or multivariate analysis was used, with P < 0.05 considered as significant. RESULT: A total of 75% of complex patients were categorized within 1 week of life. Interestingly, prenatal bowel dilation (>17 mm) and thickness (>3 mm) did not correlate with outcome or risk stratification into simple versus complex (P < 0.05). Complex patients had increased morbidity compared to simple patients (sepsis 58 versus 18%; P = 0.021, NEC 42 versus 9%; P = 0.020, short bowel syndrome 58 versus 3%; P = 0.0001, ventilator days 24 versus 10; P = 0.021; TPN days 178 versus 38; P = 0.0001 and days to full feeds 171 versus 31; P = 0.0001; and length of stay 90 versus 39 days, P = 0.0001). CONCLUSIONS: Prenatal bowel wall dilation and/or thickness did not predict complex patients or adverse outcome. Complex gastroschisis patients can be identified postnatally and have substantial morbidity.

The joint effects of maternal prepregnancy body mass index and age on the risk of gastroschisis.

Young maternal age has been associated with an increased risk of gastroschisis, while high maternal weight status has been associated with a decreased risk. We were interested in investigating the joint effect of these two risk factors to identify thresholds in risk associated with body mass index (BMI) for a given age. Data from the National Birth Defects Prevention Study included 464 case infants with gastroschisis and 4842 healthy controls. A generalised additive model with a bivariate spline for continuous maternal age and prepregnancy BMI was used to model the probability of gastroschisis. The bivariate spline in BMI and maternal age was significantly associated with gastroschisis (P = 0.0001) after adjustment for study centre, maternal race/ethnicity, education, income and number of persons supported by income, smoking, alcohol use, vitamin use, vasoconstrictor medication use and gestational diabetes. The data indicate that women who are younger and who have lower BMI are at the greatest risk; a woman with a BMI of 17 who gives birth at age 15 has 7 times the odds (adjusted odds ratio = 7.0 [95% CI 4.2, 11.5]) of having an offspring with gastroschisis compared with a woman of age 24 with a BMI of 23. Furthermore, there was an interaction between maternal age and BMI for this risk. The increased risk of low maternal age and prepregnancy BMI associated with gastroschisis appears to suggest an aetiological role related to biological immaturity for this particular birth defect.

Impact of maternal substance abuse and smoking on children with gastroschisis.

BACKGROUND/PURPOSE: Conflicting information exists regarding the effects of maternal substance abuse on gastroschisis. The objectives of this study are to determine if maternal smoking is associated with an increased risk of gastroschisis and whether substance abuse is associated with the severity of gastroschisis. METHODS: The Canadian Pediatric Surgery Network (CAPSNET) database was evaluated for associations between maternal substance abuse and the severity of the gastroschisis. We also compared smoking rates from this group to overall Canadian maternal smoking rates. RESULTS: One hundred fourteen cases of gastroschisis acquired over 18 months were evaluated. After adjusting for covariates, illicit drug use was associated with bowel necrosis (OR, 9.4; 95% CI,1.3-70) and marijuana use with matting of the intestines (OR, 4.0; 95% CI, 1.0-16). Functional outcomes assessment revealed that slower initiation of enteral feeds was associated with maternal smoking (OR, 3.8; 95% CI, 1.4-10). The overall maternal smoking rate in this cohort (30.7%) was significantly higher than the known Canadian rate (13.4%). This may be accounted for by the considerably higher smoking rate of mothers 20 to 24 years of age in our cohort (48.9%). CONCLUSIONS: Substance abuse and smoking are associated with a greater severity of gastroschisis in terms of both the degree of intestinal injury and functional outcomes. High smoking rates among young mothers may be putting children with gastroschisis at risk for poor outcomes.

Fat intake and the risk of gastroschisis.

BACKGROUND: Young age has been associated with an increased risk of gastroschisis. It has been suggested that the pathogenesis of gastroschisis may be related to vascular disruption. Nutrients that may be associated with vasoconstriction include dietary fat and its subtypes. The objective of this study was to examine the association between dietary fats and gastroschisis and whether maternal age modified this association. METHODS: Data came from the National Birth Defects Prevention Study (NBDPS), which included 304 isolated gastroschisis cases and 3313 controls. Dietary intake in the year prior to conception was ascertained using a food frequency questionnaire, and included total, saturated, monosaturated, and polyunsaturated fat and cholesterol. Unconditional logistic regression was used to estimate the odds ratios (ORs) and 95% confidence intervals (CIs), adjusting for confounders. Age and smoking were tested as effect modifiers. RESULTS: Higher mean intakes of total energy, total fat, and cholesterol as well as the subtypes of fats were found for gastroschisis cases compared to controls. Cases were more likely to be in the middle (adjusted OR [AOR], 1.3; 95% CI, 0.9-1.9) and highest (AOR, 1.2; 95% CI, 0.8-1.7) tertile of total fat intake compared to controls. This pattern was also true for saturated fat intake. No association was found for mono or polyunsaturated fat. Cases were less likely to be in the middle (AOR, 0.6; 95% CI, 0.4-0.9) and highest (AOR, 0.8; 95% CI, 0.6-1.2) tertiles for cholesterol. There was no evidence of effect modification. CONCLUSIONS: A possible weak effect of increased risk of gastroschisis associated with higher intakes of total fat or saturated fat was found in the NBDPS; however, this did not help to explain why younger aged women are at greater risk of having an infant with this type of birth defect.

[Gastroschisis prenatally and postnatally]. / Wrodzone wytrzewienie prenatalnie i postnatalnie.

OBJECTIVE: The aims of the study were: 1) evaluation of progress in surgical treatment of gastroschisis between 1990 and 2004 including the impact of prenatal diagnosis; 2) evaluation of mortality and coexisting congenital abnormalities in fetuses and newborns with gastroschisis. MATERIAL AND METHODS: Between 1990 and 2004 in Polish Mother's Health Institute gastroschisis was diagnosed in 108 cases. Basing on information from the Department of Pathology, Department of Pediatric Surgery and Department of Fetal Therapy, the patients were divided into 2 groups: 1) miscarried fetuses, still born neonates and non-operated live newborns who died within several hours after delivery (31 cases); 2) live born operated on newborns (77 cases). RESULTS: Until 1999 gastroschisis was diagnosed prenatally only in 30% of patients, while after 1999 the defect was diagnosed in 70% of cases. From the year 2000, due to close cooperation with obstetricians, newborns with gastroschisis have been operated on directly after delivery at the same theatre. In this period there were only 2 deaths due to prematurity (both twin deliveries)--5,4%. Main causes of deaths were: in group I--congenital defects of the cardiovascular and respiratory tracts and multiple defects; in group II--peritonitis, ileus due to adhesions and multiorgan failure. CONCLUSIONS: 1. Prenatal diagnostics and close cooperation between gyneacologists, obstetricians, neonatologists and pediatric surgeons significantly decreased mortality of newborns operated for gastroschisis in our Institute from 30% in 1990-1999 to 5,4 % in 2000-2004. 2. If miscarried or premature deliveries and deaths prior to operation are included, the mortality is 41%. 3. Deaths in the group of non-operated patients were caused by serious congenital defects not connected with gastroschisis.

[Evaluation of surgical treatment in gastroschisis based on personal experience]. / Ocena postepowania chirurgicznego w wytrzewieniu wrodzonym na podstawie badan wlasnych.

UNLABELLED: The ultimate goal of surgical treatment is the reduction of eviscerated bowel and full fascial closure of the abdominal defect; the sooner it is done -- the better, otherwise the risk of sepsis is overwhelming. On the other hand, however, forcible, one-step reduction may cause the development of the abdominal compartment syndrome. AIM OF THE STUDY: To summarize the personal experience concerning the surgical treatment of gastroschisis and to suggest the optimal procedure in this anomaly. MATERIAL AND METHODS: The analysis of the treatment of 67 neonates with gastroschisis who were operated on in our Department from 1994 through 2004 has been presented. In 51 of them, who were born in this Department, the diagnosis of gastroschisis had been established prenatally, in the remaining 16 -- postnatally. RESULTS: Prenatal diagnosis allows to undertake prenatal intervention, if indicated, and monitor the progress of anomaly and possible decision of earlier delivery. We found such indications in 8 of our patients in whom earlier delivery by caesarean section was performed and 9 others were given amnioinfusion. In the presented series -- in the years 1994-2000 multistep procedures with silo formation were performed more often, whereas in the years 2001-2004 we shifted our preference towards primary reduction of gastroschisis. The feasibility of primary reduction depends on the condition of eviscerated bowel and intra-abdominal pressure (monitored indirectly in the urinary bladder). In 8 cases (12%) coinciding bowel atresia was diagnosed. CONCLUSIONS: Prenatal diagnosis is of practical importance -- it allows for in utero treatment and if indicated earlier delivery. One step reduction of eviscerated bowel, if feasible is the treatment of choice. Otherwise, gradual reduction, with the use of silo is recommended.

Fetal home monitoring for the prenatal management of gastroschisis.

BACKGROUND: Fetal distress is a frequent complication of gastroschisis, and could be screened for by home monitoring, as many pregnant women expecting an affected child live far away from a specialized perinatal center. This study was undertaken to audit a policy of fetal home monitoring (FHM) to achieve early detection of fetal heart rate (FHR) abnormalities in gastroschisis. METHODS: Daily FHM was started at a median age of 30 weeks in 31 pregnant women referred following prenatal diagnosis of isolated gastroschisis. Monitoring was considered abnormal in cases with decelerations, tachycardia, bradycardia, decreased baseline variability or absence of accelerations. When an ominous FHR was detected and confirmed by in-hospital monitoring, an emergency cesarean section (C-section) was indicated. Otherwise, an elective C-section was planned. RESULTS: In 20 cases FHM remained normal. There were 16 elective C-sections, two emergency C-sections for FHR abnormalities detected by in-hospital monitoring, and two spontaneous premature vaginal deliveries. In 11 cases, an abnormal FHM was detected. There was one intrauterine death with acute ischemic necrosis of the large bowel. The other abnormalities consisted of decreased baseline variability with tachycardia (n = 7) or without tachycardia (n = 3) and were confirmed by in-hospital follow-up in nine cases, leading to emergency C-section. CONCLUSION: The high rate of abnormal FHR patterns picked up by FHM in gastroschisis led to a rate of emergency C-sections of 9/31. However, this strategy failed to prevent one intrauterine death due to acute bowel necrosis.

Successful treatment of trauma-induced short bowel syndrome with early living related bowel transplantation.

BACKGROUND: : Total parenteral nutrition (TPN) is a life-saving therapy for patients with short bowel syndrome. However, TPN is associated with a high incidence of serious complications, poor quality of life, and elevated cost. An attempt was made to avoid TPN-related complications associated with trauma-induced short bowel syndrome by using early living related donor bowel transplantation. METHODS: : Three men 27 to 30 years of age with trauma-induced short bowel syndrome received early living related donor bowel transplantation using segmental ileal grafts. RESULTS: : All the donors had an uncomplicated postoperative course. After a mean follow-up period of 40 months, all three recipients were alive and well, and did not require any TPN support. The ileal graft adapted perfectly to support fully the nutritional needs of young, active individuals. CONCLUSIONS: : Early living related donor bowel transplantation is a successful treatment for trauma-induced short bowel syndrome. It is associated with a lower incidence of complications, better quality of life, and lower cost than long-term TPN.

Amniotic fluid inflammatory proteins and digestive compounds profile in fetuses with gastroschisis undergoing amnioexchange.

OBJECTIVE: In gastroschisis, an inflammatory process related to the presence of digestive compounds may be involved in intestinal damage. We measured the amniotic fluid concentrations of total protein, ferritin and amylase, lipase, gamma-glutamyl transferase and bile acids before each amnioexchange performed in women whose infants had gastroschisis. We estimated the correlation among total proteins, ferritin and digestive compounds and postnatal outcome. DESIGN: All women whose infants had gastroschisis in our fetal medicine unit are offered repeated amnioexchange during the third trimester of pregnancy to improve the quality of the exteriorised bowel at birth. Amniotic fluid was sampled at the beginning of each amnioexchange and total proteins, ferritin and digestive compounds were assayed. SETTING: This study was conducted in the Department of Perinatology of the University Hospital Robert Debré in Paris. POPULATION: Thirty pregnant women with a gastroschisis affected fetus diagnosed antenatally. METHODS: The biological results were expressed as multiples of the median with respect to a control population. MAIN OUTCOME MEASURE: Gestational age at delivery and the outcome of the infants were recorded and correlated with amniotic fluid total proteins, ferritin and digestive compounds. RESULTS: There was a positive correlation (P < 0.01) between digestive compounds (except amylase at the final amnioexchange) and ferritin on the one hand, and all digestive compounds and total proteins concentration at the final amnioexchange on the other. In addition, among total proteins amylase and lipase, lipase concentrations were related with parameters of short term outcome (P < 0.05). CONCLUSION: Amniotic total proteins and ferritin are elevated in fetuses presenting with gastroschisis as a consequence of an inflammatory process. Inflammation may be induced by the presence of digestive compounds in the amniotic fluid. The concentrations of which may constitute a marker of short term outcome of the newborn infant.