Differential risks to males and females for congenital malformations among 2.5 million California births, 1989–1997

Shaw, Gary M.; Carmichael, Suzan L.; Kaidarova, Zhanna; Harris, John A.

doi:10.1002/bdra.10129

Cited by 55 publications

(82 citation statements)

References 24 publications

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“…Looking to literature there are several studies 9,10 that show no statistically signifi cant gender predilection, whereas several other large studies that concur with our fi ndings 20,21 .…”

Section: Discussionsupporting

confidence: 85%

Congenital Anomalies at Birth: A Hospital Based Study in UAE

Aryasinghe

Moezzi

et al. 2012

J. Nepal Paedtr. Soc.

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Section: Discussionsupporting

confidence: 85%

Congenital Anomalies at Birth: A Hospital Based Study in UAE

Aryasinghe

Moezzi

et al. 2012

J. Nepal Paedtr. Soc.

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“…Many defects have deviations in the ratio of affected males versus affected females, 30 and there are differences in the sex ratios by ethnicity for infants with cleft lip, 31 but no explanations for these deviations have been forthcoming. It is possible that the racial/ethnic differences we observed may be the result of differential loss of CHD-affected pregnancies during the gestational period rather than true differences in the incidence of CHD.…”

Section: Original Articlesmentioning

confidence: 99%

Variation in the Prevalence of Congenital Heart Defects by Maternal Race/Ethnicity and Infant Sex

Nembhard

Wang

Loscalzo

et al. 2010

The Journal of Pediatrics

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Objective To determine the prevalence of major congenital heart defects (CHD) by ethnicity and sex. Study design Data from the Florida Birth Defects Registry was used to conduct a retrospective cohort study with 8029 singleton infants with 11 CHDs born 1998-2003 to resident non-Hispanic (NH) white, NH-black, and Hispanic women aged 15 to 49. Defect-specific prevalence rates, ratios, and 95% confidence intervals were calculated. Poisson regression was used to calculate adjusted ethnic-specific rate ratios (RR) for each CHD. Statistical significance was P < .0001.Results Compared with NH-whites, NH-black males had significantly increased rates of pulmonary valve atresia/ stenosis (RR = 1.66) but lower prevalence of aortic valve atresia/stenosis (RR = 0.33) and ventricular septal defect (VSD; RR = 0.78). Hispanic males had lower rates of aortic valve atresia/stenosis (RR = 0.28), coarctation of the aorta (RR = 0.61) and VSD (RR = 0.79). NH-black females had statistically significantly lower rates of VSD (RR = 0.75), and Hispanic females had lower rates of tetralogy of Fallot (RR = 0.54), VSD (RR = 0.84) and atrioventricular septal defects (RR = 0.53) compared with NH-whites.Conclusions We found differences in ethnic susceptibilities to CHD by sex, but the cause remains unclear. (J Pediatr 2010;156:259-64).

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“…Excluding such random variation or publication bias can be difficult, unless large systematic surveys are carried out amongst a wide geographic, ethnic, and temporal spectrum. One such survey was recently reported from a large, population-based study in California [Shaw et al, 2003]. Studies such as these are valuable but though large, represent the experience of a single region.…”

Section: Introductionmentioning

confidence: 96%

“…For example, among children with certain heart defects such as transposition of the great arteries and hypoplastic left heart [Botto et al, 2001;Pradat et al, 2003;Shaw et al, 2003] the male excess is even higher than in the general newborn population, with up to two out of three cases being male. Conversely for spina bifida and particularly anencephaly, affected babies show a female rather than a male excess [Bamforth and Baird, 1989;Kä llén et al, 1994].…”

Section: Introductionmentioning

confidence: 98%

Sex and congenital malformations: An international perspective

Lisi¹,

Botto

Rittler³

et al. 2005

Am. J. Med. Genet.

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The study evaluated the sex distribution of major isolated malformations and common trisomies among a large and geographically varied sample. Eighteen registries from 24 countries contributed cases, which were centrally reviewed and classified in three clinical types as isolated, associated, or syndromic. We selected cases of 26 major defects (n = 108,534); trisomy 21, 18, and 13 (n = 30,114); other syndromes (n = 2,898); and multiple congenital anomalies (n = 24,197), for a total of 165,743 cases. We observed a significant deviation of sex distribution (compared to a sex ratio of 1.06 or male proportion of 51.4%) for 24 of the 29 groups (a male excess in 16, a female excess in 8), and in 8 of such groups these estimates varied significantly across registries. A male excess was noted for two left obstructive cardiac defects (hypoplastic left heart and coarctation of the aorta) and a female excess for all the main types of neural tube defects. A male excess was seen for omphalocele but not gastroschisis. For neural tube defects the female excess tended to be stronger in areas with historically high prevalence for these defects. For 15 of the 26 birth defects the sex distribution differed among isolated, associated, and syndromic cases. Some of these epidemiologic commonalities are consistent with known or putative developmental processes. Further, the geographic variation for some defects may reflect local prevalence rates and risk factors. Finally, the findings underscore the need for clinical classification (e.g., into isolated, multiple, syndromes) in studies of birth defects.

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Differential risks to males and females for congenital malformations among 2.5 million California births, 1989–1997

Abstract: Our observations extend the relatively few studies that have investigated differential prevalences of a large number of specific structural malformations between male and female births.

Cited by 55 publications

References 24 publications

Congenital Anomalies at Birth: A Hospital Based Study in UAE

Congenital Anomalies at Birth: A Hospital Based Study in UAE

Variation in the Prevalence of Congenital Heart Defects by Maternal Race/Ethnicity and Infant Sex

Sex and congenital malformations: An international perspective

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