Risk factors for non-syndromic holoprosencephaly in the National Birth Defects Prevention Study

Eric A Miller; Sonja A Rasmussen; Anna Maria Siega-Riz; Jaime L Frías; Margaret A Honein; National Birth Defects Prevention Study

doi:10.1002/ajmg.c.30244

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Risk factors for non-syndromic holoprosencephaly in the National Birth Defects Prevention Study

Journal article

Open access

Risk factors for non-syndromic holoprosencephaly in the National Birth Defects Prevention Study

Eric A Miller, Sonja A Rasmussen, Anna Maria Siega-Riz, Jaime L Frías, Margaret A Honein and National Birth Defects Prevention Study

American journal of medical genetics. Part C, Seminars in medical genetics, Vol.154C(1), pp.62-72

02/15/2010

DOI: 10.1002/ajmg.c.30244

PMID: 20104597

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Abstract

Holoprosencephaly (HPE) is a complex structural brain anomaly that results from incomplete cleavage of the forebrain. The prevalence of HPE at birth is low, and risk factors have been difficult to identify. Using data from a large multi-state population-based case-control study, we examined risk factors for non-syndromic HPE. Data from maternal telephone interviews were available for 74 infants with HPE and 5871 controls born between 1997 and 2004. Several characteristics and exposures were examined, including pregnancy history, medical history, maternal diet and use of nutritional supplements, medications, tobacco, alcohol, and illegal substances. We used chi(2)-tests and logistic regression (excluding women with pre-existing diabetes) to examine associations with HPE. Except for diet (year before pregnancy) and sexually transmitted infections (STIs) (throughout pregnancy), most exposures were examined for the time period from the month before to the third month of pregnancy. HPE was found to be associated with pre-existing diabetes (chi(2) = 6.0; P = 0.01), aspirin use [adjusted odds ratio (aOR) = 3.4; 95% confidence interval (CI) 1.6-6.9], lower education level (aOR = 2.5; 95%CI 1.1-5.6), and use of assisted reproductive technologies (ART) (crude OR = 4.2; 95%CI 1.3-13.7). Consistent maternal folic acid use appeared to be protective (aOR = 0.4; 95%CI 0.2-1.0), but the association was of borderline statistical significance. While some of these findings support previous observations, other potential risk factors identified warrant further study.

Pregnancy

Adolescent

Adult

Case-Control Studies

Child, Preschool

Congenital Abnormalities - epidemiology

Congenital Abnormalities - prevention & control

Diet

Female

Holoprosencephaly - epidemiology

Holoprosencephaly - ethnology

Holoprosencephaly - etiology

Humans

Infant

Infant, Newborn

Male

Prenatal Exposure Delayed Effects - epidemiology

Prosencephalon - abnormalities

Risk Factors

Syndrome

United States - epidemiology

Young Adult

Details

Title: Subtitle: Risk factors for non-syndromic holoprosencephaly in the National Birth Defects Prevention Study
Creators: Eric A Miller - Texas Department of State Health Services, Austin, 78714-9347, USA. eric.miller@dshs.state.tx.us
Sonja A Rasmussen
Anna Maria Siega-Riz
Jaime L Frías
Margaret A Honein
National Birth Defects Prevention Study
Contributors: Paul A Romitti (Contributor) - University of Iowa, Epidemiology
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part C, Seminars in medical genetics, Vol.154C(1), pp.62-72
DOI: 10.1002/ajmg.c.30244
PMID: 20104597
ISSN: 1552-4868
eISSN: 1552-4876
Grant note: U50/CCU613232 / PHS HHS R24 HD050924 / NICHD NIH HHS
Language: English
Date published: 02/15/2010
Academic Unit: Epidemiology; Biostatistics
Record Identifier: 9984214692902771

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