Risk factors for trisomy 21: Maternal cigarette smoking and oral contraceptive use in a spopulation-based case-control study

Yang, Quanhe; Sherman, Stephanie L.; Hassold, Terry; Allran, Katherine; Taft, Lisa F.; Pettay, Dorothy; Mj, Khoury; Erickson, J. David; Freeman, Sallie B.

doi:10.1097/00125817-199903000-00004

Cited by 89 publications

(88 citation statements)

References 28 publications

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“…28 One recent report showed a positive association between maternal smoking and Down syndrome only for a subset of meiotically derived cases among young mothers. 29 Maternal smoking has also been associated with cardiac defects among infants with Down syndrome, 30 and Down syndrome could be better ascertained on the birth certificate when associated defects are present.…”

Section: Discussionmentioning

confidence: 99%

Maternal smoking and birth defects: Validity of birth certificate data for effect estimation

Honein¹,

Paulozzi²,

Watkins³

2001

Public Health Reports

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SYNOPSISObjectives. The authors sought to assess the validity of birth certificate data for estimating the association between maternal smoking and birth defects. The US standard birth certificate includes check boxes for maternal smoking and for 21 congenital anomalies. The sensitivity and specificity of birth certificate data have been studied, but previous studies have not addressed the validity of these data for estimating the association between birth defects and maternal smoking or other risk factors.Methods. US public-use natality data (1997)(1998) were used to calculate the prevalence ratio (adjusted for maternal age, race/ethnicity, and education) for the association between maternal smoking and 13 defects/defect categories. All analyses were restricted to 45 states, New York City, and the District of Columbia because they collect both maternal smoking and birth defect data.Results. Maternal smoking was associated with an increased prevalence of hydrocephaly (adjusted prevalence ratio [PR] = 1.24; 95% confidence interval [CI] = 1.08,1.43), microcephaly (PR 1.47; 95% CI 1.15,1.88), omphalocele/ gastroschisis (PR 1.37; 95% CI 1.22,1.53), cleft lip/palate (PR 1.35; 95% CI 1.25,1.45), clubfoot (PR 1.62; 95% CI 1.49,1.75), and polydactyly/syndactyly/ adactyly (PR 1.33; 95% CI 1.23,1.43 ). Previous studies have indicated an association between maternal smoking and gastroschisis, oral clefts, and clubfoot with effect estimates of similar magnitude to this study.Conclusions. These findings suggest that birth certificate data may be useful for exploratory or corroborative studies estimating the association between birth defects and some risk factors recorded on birth certificates.

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Section: Discussionmentioning

confidence: 99%

Maternal smoking and birth defects: Validity of birth certificate data for effect estimation

Honein¹,

Paulozzi²,

Watkins³

2001

Public Health Reports

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“…The set of environmental and behavioral risk factors to which women are exposed have also been implicated in the etiology of trisomy 21 birth (Chen et al 1999;Kaufman 1983;Padmanabhan et al 2004;Yang et al 1999;Martínez-Frías et al 2001). Moreover, recent epidemiological studies by our group (Ghosh et al 2011) on liveborn DS infants from Kolkata, India, revealed interactions among maternal age, recombination pattern of Ch21, and the mother's behavioral risk factors.…”

Section: Introductionmentioning

confidence: 99%

Altered incidence of meiotic errors and Down syndrome birth under extreme low socioeconomic exposure in the Sundarban area of India

Ghosh

Dey

2013

J Community Genet

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We conducted a survey to analyze the genetic epidemiology of trisomy 21 Down syndrome births in the Sundarban delta region of India. In this region, inhabitants are chiefly from marginalized poor tribal communities and have lived in extremely low socioeconomic condition for several generations. Microsatellite genotyping revealed an meiosis I/meiosis II ratio that is different from the previous reports on the Down syndrome populations from other parts of the world. Analyses of distribution of achiasmate nondisjunction at maternal meiosis I in interaction with different maternal age groups (young, middle, and old) revealed a very concordant pattern to that of urban and semi-urban Down syndrome cases previously studied by our group. However, the frequency of achiasmate meiosis is much lower, which suggests that extreme low socioeconomic exposure imparts risk of chromosomal nondisjunction even when the maternal chromosomes 21 engage in proper chiasma formation at prophase I of oogenesis.

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“…However, only one risk factor for maternal non-disjunction has been definitive and well-established -maternal age [5][6][7]. An association has also been found between maternal smoking combined with oral contraceptives use and DS [8,9]. The primary prevention of the disease will be based on identification of genetic or environmental factors influencing maternal non-disjunction.…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome — meta-analysis

et al. 2009

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AbstractFolate metabolism deficiency has been related to increased occurrence of maternal non-disjunction resulting in trisomy 21. Several polymorphisms in genes coding for folate metabolism enzymes have been investigated for association with the maternal risk of Down syndrome (DS) yielding variable results. We performed a meta-analysis of case-control studies obtained through the PubMed database. The studies on polymorphisms in the MTHFR, MTRR, MTR, RFC1 and CBS genes were included. The summary OR demonstrated a statistically significant increased risk of giving birth to a child with DS in mothers carrying the mutant allele of the MTHFR/C677T gene polymorphism (both genetic models) and in mothers homozygous for the mutant allele of the MTRR/A66G polymorphism (recessive genetic model). Analyses of other polymorphisms, MTHFR/A1298C, MTR/A2756G, RFC1/A80G, and CBS/844ins68, resulted in borderline or no statistical significance. In conclusion, our meta-analysis showed the significance of genetic alterations in the folate metabolism genes in maternal susceptibility to DS offspring. Our results suggest that the importance of folate supplementation to women in reproductive age in prevention of non-disjunction be revised. Further genetic studies on a combined effect of multiple folate metabolism genes is recommended. Additionally, more thorough studies on the haplotype analyses of genes is recommended as well, especially in populations that have not yet been investigated thus far.

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Risk factors for trisomy 21: Maternal cigarette smoking and oral contraceptive use in a spopulation-based case-control study

Abstract: Our results indicate that categorizing cases of trisomy 21 by parent and timing of the meiotic error allows more precision in identifying risk factors and may shed light on mechanisms of meiotic nondisjunction.

Cited by 89 publications

References 28 publications

Maternal smoking and birth defects: Validity of birth certificate data for effect estimation

Maternal smoking and birth defects: Validity of birth certificate data for effect estimation

Altered incidence of meiotic errors and Down syndrome birth under extreme low socioeconomic exposure in the Sundarban area of India

Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome — meta-analysis

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