Orofacial clefts in the National Birth Defects Prevention Study, 1997-2004

Alicia E Genisca; Jaime L Frías; Cheryl S Broussard; Margaret A Honein; Edward J Lammer; Cynthia A Moore; Gary M Shaw; Jeffrey C Murray; Wei Yang; Sonja A Rasmussen; National Birth Defects Prevention Study

doi:10.1002/ajmg.a.32854

Back

Orofacial clefts in the National Birth Defects Prevention Study, 1997-2004

Journal article

Peer reviewed

Orofacial clefts in the National Birth Defects Prevention Study, 1997-2004

Alicia E Genisca, Jaime L Frías, Cheryl S Broussard, Margaret A Honein, Edward J Lammer, Cynthia A Moore, Gary M Shaw, Jeffrey C Murray, Wei Yang, Sonja A Rasmussen, …

American journal of medical genetics. Part A, Vol.149A(6), pp.1149-1158

06/2009

DOI: 10.1002/ajmg.a.32854

PMCID: PMC3111146

PMID: 19441124

Files and links (1)

url

https://www.ncbi.nlm.nih.gov/pmc/articles/3111146View

Open Access

Abstract

Orofacial clefts are among the most common types of birth defects, but their clinical presentation has not been well described in a geographically diverse US population. To describe the birth prevalence and phenotype of nonsyndromic clefts, we used data from the National Birth Defects Prevention Study (NBDPS), a multi-site, population-based, case-control study aimed at identifying genetic and environmental risk factors for birth defects. Included in the study were infants born during 1997-2004 with a cleft lip (CL), cleft lip with cleft palate (CLP), or cleft palate (CP). Infants with clefts associated with recognized single-gene disorders, chromosome abnormalities, holoprosencephaly, or amniotic band sequence were excluded. A total of 3,344 infants with nonsyndromic orofacial clefts were identified, including 751 with CL, 1,399 with CLP, and 1,194 with CP, giving birth prevalence estimates of 0.3, 0.5, and 0.4/1,000 live births, respectively. Among infants with CLP where cleft laterality was specified, about twice as many had unilateral vs. bilateral involvement, while for CL there were over 10 times as many with unilateral versus bilateral involvement. Involvement was most often left-sided. About one-quarter of infants with CP had Pierre Robin sequence. Over 80% of infants had an isolated orofacial cleft. Among infants with CL or CLP, heart, limb, and other musculoskeletal defects were most commonly observed, while heart, limb, and central nervous system defects were most common among infants with CP. Better understanding of the birth prevalence and phenotype may help guide clinical care as well as contribute to an improved understanding of pathogenesis.

Pregnancy

United States - epidemiology

Congenital Abnormalities - epidemiology

Congenital Abnormalities - prevention & control

Prevalence

Cleft Lip - epidemiology

Humans

Pierre Robin Syndrome - epidemiology

Case-Control Studies

Epidemiologic Methods

Abnormalities, Multiple - epidemiology

Female

Retrospective Studies

Cleft Palate - epidemiology

Infant, Newborn

Details

Title: Subtitle: Orofacial clefts in the National Birth Defects Prevention Study, 1997-2004
Creators: Alicia E Genisca - Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
Jaime L Frías
Cheryl S Broussard
Margaret A Honein
Edward J Lammer
Cynthia A Moore
Gary M Shaw
Jeffrey C Murray
Wei Yang
Sonja A Rasmussen
National Birth Defects Prevention Study
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part A, Vol.149A(6), pp.1149-1158
DOI: 10.1002/ajmg.a.32854
PMID: 19441124
PMCID: PMC3111146
NLM abbreviation: Am J Med Genet A
ISSN: 1552-4825
eISSN: 1552-4833
Publisher: United States
Grant note: R37 DE008559 / NIDCR NIH HHS P50 DE016215 / NIDCR NIH HHS R37 DE008559-19 / NIDCR NIH HHS R37 DE008559-20 / NIDCR NIH HHS R37 DE008559-18 / NIDCR NIH HHS P50 DE016215-04 / NIDCR NIH HHS
Language: English
Date published: 06/2009
Academic Unit: Anatomy and Cell Biology; International Programs; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Nursing; Public Policy Center (Archive); Dental Research
Record Identifier: 9983996064102771

Metrics

18 Record Views

115 Times Cited - Web of Science