Sex prevalence of major congenital anomalies in the United Kingdom: A national population‐based study and international comparison meta‐analysis

Sokal, Rachel; Tata, Laila J.; Fleming, Kate M

doi:10.1002/bdra.23218

Cited by 80 publications

(73 citation statements)

References 29 publications

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“…Sex differences among cases of a variety of specific birth defects have been addressed previously in several population‐based studies of congenital anomalies [Lary and Paulozzi, ; Shaw et al, ; Rittler et al, ; Lisi et al, ; Tennant et al, ; Sokal et al, ]. In Table , we present odds ratios from the present study and relative risk estimates from the other studies for birth defect categories for which our case definition is similar.…”

Section: Discussionsupporting

confidence: 60%

“…Multiple congenital anomalies were reported as a single grouping as was done in the other studies discussed above. Notable differences exist in study results for common truncus (truncus arteriosus) and bladder exstrophy, with large male excesses observed by Sokal et al [] and for choanal atresia for which their prevalence ratio was closer to the null. The other cardiac defects in common have more similar results.…”

Section: Discussionmentioning

confidence: 89%

“…The most recent study of sex ratio among infants with congenital anomalies also came from a study population in the United Kingdom. Sokal et al [] conducted a population‐based study using data collected from an electronic database of primary care health records and included infants born between 1990 and 2009. Sex‐specific prevalences and prevalence ratios were calculated for a large number of birth defects.…”

Section: Discussionmentioning

confidence: 99%

“…Sex differences in the prevalence of congenital malformations may provide insight into their etiologic mechanisms or etiologic heterogeneity [Kallen, ; Lubinsky, ; Rittler et al, ]. Only a limited number of published studies have examined sex ratio for a variety of anomaly subtypes [Lary and Paulozzi, ; Shaw et al, ; Rittler et al, ; Lisi et al, ; Tennant et al, ; Sokal et al, ]. Differences in the sex ratio of certain birth defects by racial/ethnic group may provide additional insight into genetic susceptibility or environmental exposures.…”

Section: Introductionmentioning

confidence: 99%

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Sex ratios among infants with birth defects, National Birth Defects Prevention Study, 1997–2009

Michalski

Richardson

Browne

et al. 2015

American J of Med Genetics Pt A

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A small number of population-based studies have examined sex differences among infants with birth defects. This study presents estimates of sex ratio for both isolated cases and those with multiple congenital anomalies, as well as by race/ethnicity. Male-female sex ratios and their 95% confidence intervals were calculated for 25,952 clinically reviewed case infants included in the National Birth Defects Prevention Study (1997-2009), a large population-based case-control study of birth defects. The highest elevations in sex ratios (i.e., male preponderance) among isolated non-cardiac defects were for craniosynostosis (2.12), cleft lip with cleft palate (2.01), and cleft lip without cleft palate (1.78); the lowest sex ratios (female preponderance) were for choanal atresia (0.45), cloacal exstrophy (0.46), and holoprosencephaly (0.64). Among isolated cardiac defects, the highest sex ratios were for aortic stenosis (2.88), coarctation of the aorta (2.51), and d-transposition of the great arteries (2.34); the lowest were multiple ventricular septal defects (0.52), truncus arteriosus (0.63), and heterotaxia with congenital heart defect (0.64). Differences were observed by race/ethnicity for some but not for most types of birth defects. The sex differences we observed for specific defects, between those with isolated versus multiple defects, as well as by race/ethnicity, demonstrate patterns that may suggest etiology and improve classification.

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Section: Discussionsupporting

confidence: 60%

Section: Discussionmentioning

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Sex ratios among infants with birth defects, National Birth Defects Prevention Study, 1997–2009

Michalski

Richardson

Browne

et al. 2015

American J of Med Genetics Pt A

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“…Studies report gender (8), maternal age of more than 30, parental consanguinity, and positive family history (6) as factors contributing to CAs. Moreover, the risk of major CAs is almost 20% higher in males than in females so that the prevalence of major CAs among males and females is respectively 307 and 243 cases per 10,000 persons (8).…”

Section: Introductionmentioning

confidence: 99%

The Prevalence of Major Congenital Anomalies Among Live Births in Birjand, Iran

2018

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Background and Objectives: Congenital anomalies can increase the neonatal mortality rate. Infants with anomalies suffer from long-term disabilities that impose heavy burdens on their families and healthcare systems. Understanding the prevalence of congenital anomalies helps health policy-makers develop better health-related policies. This study aimed to evaluate the prevalence of major congenital anomalies among live births in Birjand city, Iran. Methods: This cross-sectional descriptive-analytical study was conducted on 6,000 infants who were born from September 23, 2015, to March 6, 2016, in the maternity departments in Birjand. Stillbirths and infants who died immediately after birth, i.e. before the assessment for anomalies, were excluded. On the first day of birth, a neonatologist or a pediatrician performed a careful physical examination for each infant to diagnose probable congenital anomalies. Appropriate diagnostic procedures were also used to confirm the diagnosis when needed. Then, data on the characteristics of infants were collected using a researcher-made checklist. The data were reported using descriptive statistics such as absolute frequency, relative frequency, mean, and standard deviation. Moreover, the Chi-square and Fisher's exact tests were conducted using the SPSS computer program (v. 16.0) for hypothesis testing at a significance level of less than 0.05. Results: The prevalence of major congenital anomalies was 1.83 cases per 1000 live births. The prevalence rates of low birth weight and prematurity were significantly greater among infants with congenital anomalies than in their non-afflicted counterparts (45.5% vs. 15.9% and 36.4% vs. 11.1%, respectively; P < 0.05). Around 63.6% of the anomalies were among male infants and 54.5% of parents had kinship relationships. Conclusions: This study showed that the prevalence of major congenital anomalies among live births in Birjand was 1.83 cases per 1000 live births, which is less than the rates reported in other areas of Iran.

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Laterality defects in the national birth defects prevention study (1998–2007): Birth prevalence and descriptive epidemiology

Lin

Krikov

Riehle‐Colarusso

et al. 2014

American J of Med Genetics Pt A

169

155

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Little is known epidemiologically about laterality defects. Using data from the National Birth Defects Prevention Study (NBDPS), a large multi-site case-control study of birth defects, we analyzed prevalence and selected characteristics in children born with laterality defects born from 1998 to 2007. We identified 517 nonsyndromic cases (378 heterotaxy, 73.1%; 139 situs inversus totalis [SIT], 26.9%) resulting in an estimated birth prevalence of 1.1 per 10,000 live births (95% confidence interval 1.0–1.2). Prevalence did not differ significantly across sites, over time, or by inclusion of pregnancy termination. Laterality defects were more common among preterm cases compared to term cases, and in children born to mothers who were non-white or younger than 20 years compared to white mothers or those age 25–29 years. The distribution of associated cardiac and extracardiac defects, excluding the expected heterotaxy anomalies, varied by type of laterality defect. Cases with heterotaxy were significantly more likely than those with SIT to have double outlet right ventricle, atrioventricular canal defects, pulmonary stenosis, non-tetralogy of Fallot pulmonary atresia with ventricular septal defect, totally and partially anomalous pulmonary venous return; also more likely to have orofacial clefts, esophageal atresia, bowel atresias, and omphalocele, though not reaching statistical significance. Relatively more common among cases with SIT were Dandy-Walker malformation, anotia/microtia, and limb deficiency. The similarity in the demographic characteristics of heterotaxy and SIT supports the hypothesis that they are part of a continuum of abnormal left-right axis patterning. These findings on laterality defects may help guide clinical care, future research, and prevention strategies.

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Sex prevalence of major congenital anomalies in the United Kingdom: A national population‐based study and international comparison meta‐analysis

Cited by 80 publications

References 29 publications

Sex ratios among infants with birth defects, National Birth Defects Prevention Study, 1997–2009

Sex ratios among infants with birth defects, National Birth Defects Prevention Study, 1997–2009

The Prevalence of Major Congenital Anomalies Among Live Births in Birjand, Iran

Laterality defects in the national birth defects prevention study (1998–2007): Birth prevalence and descriptive epidemiology

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