Descriptive epidemiology of birth defects thought to arise by new mutation

Langlois, Peter H.; Scheuerle, Angela E.

doi:10.1002/bdra.23412

Cited by 2 publications

(2 citation statements)

References 31 publications

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“…included pregnancy terminations (Coi et al, 2019;Jaruratanasirikul et al, 2016;Langlois & Scheuerle, 2015;Rasmussen et al, 1996;Stevenson, 1957;Waller et al, 2008). For the remaining estimates it was unclear whether pregnancy terminations were considered.…”

Section: Characteristics Of Studiesmentioning

confidence: 99%

Birth prevalence of achondroplasia: A systematic literature review and meta‐analysis

Foreman

Kessel²,

Hoorn³

et al. 2020

American J of Med Genetics Pt A

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Achondroplasia is a genetic disorder that results in disproportionate short stature. The true prevalence of achondroplasia is unknown as estimates vary widely. This systematic literature review and meta‐analysis was conducted to better estimate worldwide achondroplasia birth prevalence. PubMed, Embase, Scielo, and Google Scholar were searched, complemented by manual searching, for peer‐reviewed articles published between 1950 and 2019. Eligible articles were identified by two independent researchers using predefined selection criteria. Birth prevalence estimates were extracted for analysis, and the quality of evidence was assessed. A meta‐analysis using a quality effects approach based on the inverse variance fixed effect model was conducted. The search identified 955 unique articles, of which 52 were eligible and included. Based on the meta‐analysis, the worldwide birth prevalence of achondroplasia was estimated to be 4.6 per 100,000. Substantial regional variation was observed with a considerably higher birth prevalence reported in North Africa and the Middle East compared to other regions, particularly Europe and the Americas. Higher birth prevalence was also reported in specialized care settings. Significant heterogeneity (Higgins I2 of 84.3) was present and some indication of publication bias was detected, based on visual asymmetry of the Doi plot with a Furuya‐Kanamori index of 2.73. Analysis of pooled data from the current literature yields a worldwide achondroplasia birth prevalence of approximately 4.6 per 100,000, with considerable regional variation. Careful interpretation of these findings is advised as included studies are of broadly varying methodological quality.

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Section: Characteristics Of Studiesmentioning

confidence: 99%

Birth prevalence of achondroplasia: A systematic literature review and meta‐analysis

Foreman

Kessel²,

Hoorn³

et al. 2020

American J of Med Genetics Pt A

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“…Model 2 includes maternal characteristics available from the TBDR and vital records that have been previously associated with birth defects in other studies: smoking (checked off in the vital record vs. not checked; Hackshaw, Rodeck, & Boniface, 2011), plurality of birth (1 fetus, 2 or more fetuses; Dawson et al, 2016;Langlois & Scheuerle, 2015), maternal age (≤19, 20-24, 25-29, 30-34, 35-39, 40≥ years;Gill et al, 2012;Rittler et al, 2015), race/ethnicity (White non-Hispanic, Black non-Hispanic, Hispanic, other non-Hispanic) (Canfield et al, 2006(Canfield et al, , 2014Ibrahim et al, 2014), and education group (less than high school, high school, greater than high school; Yang et al, 2008;Yu et al, 2014). Only deliveries with complete data were included in each analysis; missingness for the selected covariates were less than 1%.…”

Section: Discussionmentioning

confidence: 99%

A spatial analysis of birth defects in Texas, 1999–2011

Tang

Langlois

Vieira

2021

Birth Defects Research

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Background: The etiologies of major birth defects are still unclear and few spatial analyses have been conducted in the United States. Spatial analyses of individual-level data can help elucidate environmental and social risk factors. Methods: We used generalized additive models to analyze 52,955 cases of neural tube defects, congenital heart defects (CHDs), gastroschisis, and orofacial cleft defects, and sampled from 642,399 controls born between 1999 and 2011 in Texas.The effect of geographic location was measured using a bivariable smooth term of geocoded birth address within a logistic regression framework. We calculated and mapped odds ratios (ORs) and 95% confidence intervals (CIs) for birth defects subtypes across Texas, and adjusted for maternal characteristics, environmental indicators, and community-level covariates. We also performed time-stratified spatiotemporal analyses for more prevalent birth defects. Results: Location was significantly associated with crude odds of all birth defects except hypoplastic left heart syndrome. After adjusting for maternal characteristics, environmental indicators, and community-level factors, ORs in many geographic areas were no longer statistically significant for most defects, especially CHDs. However, areas of significant and insignificant elevated risk remained for defects in all groups in North and South Texas, with ORs for ventricular septal defects increasing over time. Low risk of birth defects was often present in the northern part of East Texas. Conclusion:Significant spatial patterns of birth defects were identified and varied depending on adjustment of different categories of covariates. Further investigation of areas with increased risks may aid in our understanding of birth defects.

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Descriptive epidemiology of birth defects thought to arise by new mutation

Cited by 2 publications

References 31 publications

Birth prevalence of achondroplasia: A systematic literature review and meta‐analysis

Birth prevalence of achondroplasia: A systematic literature review and meta‐analysis

A spatial analysis of birth defects in Texas, 1999–2011

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