Prevalence rates study of selected isolated non-Mendelian congenital anomalies in the Hutterite population of Alberta, 1980-2016.

A study of the prevalence rates for selected isolated non-Mendelian congenital anomalies in the Hutterite Brethren of Alberta, Canada was undertaken to further examine longitudinal data in this isolated community that was last reported in 1985 (Lowry et al., 1985), although there are numerous publications on recessive disorders (Boycott et al., 2008; Triggs-Raine et al., 2016). Cases were ascertained from the Alberta Congenital Anomaly Surveillance System for the years 1997-2016. Since our initial results showed some surprising findings in the Hutterite Brethren, such as zero cases of spina bifida, cleft lip and palate, gastroschisis, and omphalocele, and a significant excess of cases with hypospadias, we extended the study to prior years (1980-1996) for selected anomalies. For the extended study period (1980-2016), there was a significant increased prevalence of hypospadias, tetralogy of Fallot and tricuspid atresia in the Hutterite population, and although not statistically significant, zero cases of cleft lip with cleft palate, gastroschisis and omphalocele were confirmed. Further research is needed to determine the precise effects of rural environmental exposures, lifestyle factors, and genetic associations for selected multifactorial congenital anomalies.

Ethnic variation of gastroschisis and omphalocele in the United States of America.

OBJECTIVE: Gastroschisis and omphalocele are the most common fetal abdominal wall defects (AWDs). Ethnic factors have been implicated in the incidence data from some states in the United States. Our aim was to examine ethnic variation in the prevalence of gastroschisis and omphalocele in the US live birth population between 2006 and 2010. METHODS: AWDs were identified through gastroschisis and omphalocele checkboxes from publicly available US Natality data (2006 to 2010). Ethnicity was evaluated by individual category using National Center for Health Statistics (NCHS) definitions. Adjusted multinomial logistic regression (SPSS v.19) was used to generate odds ratios (OR) in order to quantify the disparities. RESULTS: In the US, 7867 live births were identified with AWD. All ethnic groups showed a significantly higher OR when compared with women of East/South Asian descent, which experienced the lowest prevalence. Women of indigenous ethnicity had the highest individual OR while their adjusted OR remained greater than 4.0. CONCLUSIONS: Women of indigenous origin from North America and the Pacific had the highest rates of AWD. Within this group, women of Hawaiian descent had the highest point estimate of AWD when compared with other ethnic groups, though not significant.

Maternal reporting of prenatal ultrasounds among women in the National Birth Defects Prevention Study.

BACKGROUND: Increased availability and usage of ultrasound screening have led to improved identification of fetal structural abnormalities prenatally. Few population-based studies have been published on prenatal detection for structural birth defects in the United States. The aim of this study is to determine the frequency of maternal reporting of abnormal prenatal ultrasounds for selected birth defects and to investigate associated maternal characteristics. METHODS: Participants included 4013 mothers enrolled in the National Birth Defects Prevention Study who carried a fetus with at least one of 14 structural birth defects between 1997 and 2004. Frequencies of abnormal prenatal ultrasounds were based on maternal report and computed for isolated and multiple defects. Associations between maternal characteristics and abnormal prenatal ultrasounds were assessed using logistic regression. RESULTS: Overall, 46% of participants reported an abnormal ultrasound. Infants with omphalocele, anencephaly, gastroschisis, and renal agenesis were more likely to have abnormal prenatal ultrasounds than those with cleft and limb abnormalities. Hispanic women were less likely to report abnormal prenatal ultrasounds of birth defects than Caucasians, as were women who had a body mass index ≥ 30 kg/m(2) compared with those with a normal body mass index. CONCLUSION: Of the 14 selected birth defects in this study, less than half were reported by mothers of affected infants to have had an abnormal ultrasound during pregnancy. The frequency of reporting abnormal prenatal ultrasounds varies by type of defect, maternal race/ethnicity, and maternal body mass index status.

Low risk, but not no risk, of umbilical hernia complications requiring acute surgery in childhood.

AIMS: Umbilical hernias are a common finding in the paediatric community, with a preponderance to affect Afro-Caribbean and premature children. The rate of incarceration varies greatly between populations. Therefore, it is valuable to obtain some Australian data on this topic. METHODS: We undertook a retrospective study of the records of all patients who underwent umbilical hernia repair over a 12-year period of between October 1999 and May 2012 at Princess Margaret Hospital. From this group, all patients that had an umbilical hernia repair for reason of acute complication were identified and analysed for age, ethnicity and co-morbidities. RESULTS: Between October 1999 and May 2012, 433 umbilical hernias were repaired at Princess Margaret Hospital, five of which were as the direct result of an acutely complicated umbilical hernia. The mean age of hernia repair was 5 years old, and the mean age of acute complication was 5 years old. Out of the patients with acutely complicated umbilical hernia, there were no Afro-Caribbean patients, and one was premature complicated by hyaline membrane disease and broncho-pulmonary dysplasia. CONCLUSIONS: Western Australia has an incidence of acutely complicated umbilical hernia requiring operative intervention of 1:3000 to 1:11,000. On an international scale, this is low, and studies with similar incidence do not advocate for immediate repair of all identified umbilical hernias. The authors believe repair should be guided by patient and guardian, but if there is an episode of incarceration, acute repair is advised.

Prevalence and trends of selected congenital malformations in New York State, 1983 to 2007.

BACKGROUND: Major birth defects result in high infant mortality and morbidity. It is important to evaluate the burden of birth defects and trends for future intervention and public health improvement. Using the New York State (NYS) Congenital Malformations Registry data, we examined the prevalence and trends of birth defects among children in NYS during 25 years of surveillance. METHODS: Children who had any of the 21 selected birth defects and were born to NYS residents between 1983 and 2007 were selected. The prevalence of each defect was characterized by demographic and birth factors, and the prevalence ratio was calculated. Live births of NYS residents for the same birth year period were used as the denominators for calculating the prevalence. The prevalence trends of birth defects were analyzed by maternal age and race/ethnicity. RESULTS: Compared with non-Hispanic whites, we detected 33%, 21%, and 37% higher prevalence of encephalocele, lower limb deficiencies and omphalocele among non-Hispanic blacks, respectively, and 22% higher prevalence of gastroschisis among Hispanics. Increasing trends of gastroschisis and Down syndrome among non-Hispanic blacks and decreasing trends of spina bifida and limb deficiencies were observed in NYS. CONCLUSION: The findings from this study suggest the existence of racial disparities among children with selected birth defects in NYS. The increasing trends of gastroschisis and Down syndrome observed in NYS are consistent with nationwide trends.

Demographic and environmental risk factors for gastroschisis and omphalocele in the National Birth Defects Prevention Study.

BACKGROUND: Primary prevention efforts for both gastroschisis and omphalocele are limited by the lack of known risk factors. Our objective was to investigate associations between potential maternal risk factors and gastroschisis and omphalocele within a large population-based sample of participants enrolled in the National Birth Defects Prevention Study (NBDPS). METHODS: Demographic, health-related, and environmental exposure data from the NBDPS were collected from women with expected delivery dates between October 1997 and December 2003. Data were collected on 485 cases of gastroschisis, 168 cases of omphalocele, and 4967 controls. RESULTS: Women who had offspring with gastroschisis were younger (adjusted odds ratio [AOR], 0.84; 95% confidence interval [CI], 0.81-0.86) and less likely to be black (AOR, 0.54; 95% CI, 0.34-0.85) than controls. They also were more likely to have smoked (AOR, 1.51; 95% CI, 1.12-2.03), taken ibuprofen (AOR, 1.61; 95% CI, 1.23-2.10), and consumed alcohol (AOR, 1.38; 95% CI, 1.06-1.79) than controls. Women who had offspring with omphaloceles were more likely to have consumed alcohol (AOR, 1.53; 95% CI, 1.04-2.25) and be heavy smokers (AOR, 4.26; 95% CI, 1.58-11.52) than controls. CONCLUSIONS: Our results suggest a moderately increased risk of gastroschisis among women who used tobacco, alcohol, and ibuprofen during early pregnancy. A modestly elevated risk was observed for omphaloceles among women who used alcohol during the first trimester and among women who were heavy smokers.

Folate-related genes and omphalocele.

Women who take folic acid in the periconceptional period greatly reduce their chances of having a child with a neural tube defect (NTD). Using multivitamins may also reduce the risk of having a child with an omphalocele. In this study, we tested single nucleotide polymorphisms in folate-related enzyme genes for association with omphalocele. Polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methylenetetrahydrofolate dehydrogenase (MTHFD1), the reduced folate carrier (SLC19A1), and transcobalamin II (TCN2) were examined in 25 children with euploid omphalocele and 59 matched controls. Omphalocele cases were significantly more likely to carry the T allele of MTHFR 677C-->T, a known risk factor for NTDs (odds ratio 3.50, 95% confidence interval 1.07-11.47, P=0.035). The MTHFD1 R653Q, SLC19A1 R27H, and TCN2 P259R polymorphisms showed no significant association with omphalocele. In this small study, the thermolabile variant of MTHFR, 677C-->T, was associated with an increased risk for omphalocele. This variant causes reduced enzyme activity, thus suggesting a mechanism by which multivitamins with folic acid might prevent omphalocele. Additional investigation is required.

Omphalocele and gastroschisis: Black-White disparity in infant survival.

BACKGROUND: Racial/ethnic variations in the occurrence of abdominal wall defects have been previously noted but it remains poorly understood whether race/ethnicity is a determinant of survival among affected infants. METHODS: Study was conducted on cases of gastroschisis and omphalocele recorded for the years 1983-1999 at the New York Congenital Malformation Registry. Adjusted and unadjusted hazard ratios were generated from a Proportional Hazards Regression model to compare survival among affected Blacks, Hispanics and Whites. The major end point of analysis was differences in all cause mortality among infants with abdominal wall birth defects across different racial/ethnic groups. RESULTS: Among the three racial/ethnic groups, 1481 infants were diagnosed with either omphalocele (978 or 66%) or gastroschisis (503 or 34%). Overall infant mortality rate (IMR) was 182 per 1000, with 74% of the deaths occurring within the first 28 days of life. Omphalocele infants had significantly higher infant mortality (IMR = 215 per 1000) than infants with gastroschisis (IMR = 118 per 1000)[p < 0.0001]. Overall, Black infants with abdominal wall defects had lower mortality indices than Whites and Hispanics. However, when considered as separate disease entities, Black infants were twice as likely to survive as compared to Whites if they had omphalocele [Adjusted Hazard Ratio (AHR) = 0.52; 95% Confidence Interval (CI) = 0.37-0.74], and twice as likely to die as Whites if they had gastroschisis instead (AHR = 2.23; 95% CI = 1.16-4.28). For both defect subtypes, Hispanics have risks for infant mortality comparable to Whites. CONCLUSIONS: The natural history of omphalocele and gastroschisis co-varies with race. Black infants with gastroschisis have worse survival outcomes while those with omphalocele have better chances of survival than their White or Hispanic counterparts.

Omphalocele and gastroschisis in the State of New York, 1992-1999.

BACKGROUND: Variations in the temporal distribution and risk factors for omphalocele and gastroschisis have been suggested although results have not been conclusive. This study examines the trend and risk factors for both conditions among live births in New York State. METHODS: Analysis of surveillance data from the New York Congenital Malformation Registry for the years 1992-1999. RESULTS: Five hundred and ninety-five (595) infants with either omphalocele (287) or gastroschisis (308) were identified. It appeared that the prevalence of gastroschisis was rising from 1992-1999, while prevalence of omphalocele was decreasing. Cases of gastroschisis were clustered among younger mothers while the maternal age distribution among omphalocele infants was U-shaped. As compared to Whites, Black infants were more likely to present with omphalocele (OR = 1.73; 95% confidence interval = 1.28-2.33) and Hispanic infants with gastroschisis (OR = 1.50; 95% CI = 1.12-2.00). For both anomalies, residents of rural New York were significantly at higher risk than those living in urban New York. Twenty-three chromosomal aberrations were detected, all among omphalocele babies. Infant survival was substantially greater among gastroschisis (92%) as compared to omphalocele newborn (81%)[p < 0.0001]. CONCLUSIONS: Prevalence of gastroschisis has been on the rise while that of omphalocele has been declining in New York State. Geographical and racial/ethnic variations were observed, further confirming the notion of different etiologies for the two congenital anomalies.

Repair of the huge umbilical hernia in black children.

Surgical repair of large umbilical hernias may present a challenging surgical problem. The currently described surgical techniques often yield disappointing results. The authors describe a new technique that allows for the repair of the fascial defect and the creation, with the use of a square cutaneous flap, of a neoumbilicus with sufficient depth and a good cosmetic appearance.

Umbilical hernia in Bulawayo: some observations from a hospital based study.

We present a retrospective study of 40 consecutive patients admitted with umbilical herniae to Mpilo Central Hospital between January 1990 and December 1993. The majority of the patients 95 pc (38/40) were children and only 5 pc (2/40) were adults. The study included 18 males and 22 females giving a M:F ratio of 1:1,2. In children the age range was from 1 month to 13 years with 63 pc (24/38) occurring in the zero to five year age group. The commonest indication for admission was obstruction of the umbilical hernia in 37.5 pc (15/40) of cases. Other indications included: large umbilical hernia 30 pc (12/40), recurrent discomfort and peri-umbilical pain 20 pc (8/40), incidental finding in patients admitted for some other problem 7.5 pc (3/40), one case of recurrent hernia and one case of accidental injury. Spontaneous reduction of obstructed umbilical herniae occurred in 86 pc (13/15) of cases and operative reduction was carried out in 14 pc (2/15) of cases. There was no mortality recorded in this series. It is clear from our findings in this study that obstruction of the umbilical hernia in children in our practice although relatively uncommon, is a well recognised surgical emergency. On the basis of our findings we would recommend that prophylactic umbilical hernia repair should be performed in all girls over two years of age and in all children over four years of age.

Nutritional status and umbilical hernia in Nigerian school children of different ethnic groups.

The relationship between nutritional status and umbilical hernia was assessed among Hausa and Yoruba school children in rural areas of Kwara State, Nigeria. The prevalence of umbilical hernia in the rural school pupils was 19.4%. The Yoruba school children had a higher prevalence rate of 22.0%, while the prevalence rate for Hausa pupils was 16.9%. The association between umbilical hernia and primary school class was statistically significant. More school children suffering from protein energy malnutrition presented with umbilical hernia. The association between umbilical hernia and nutritional status was weak. The school health component of the national primary health program should be intensified to screen school children regularly for umbilical hernia. The school health environment of rural Nigerian schools should be improved through government efforts.