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Genetic Epidemiology and Congenital Malformations
From the Chromosome to the Crib
Charlotte A. Hobbs, MD, PhD;
Mario A. Cleves, PhD;
Caroline J. Simmons, MS
Arch Pediatr Adolesc Med. 2002;156:315-320.
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Birth defects or congenital malformations are a significant public health
concern that affects 3% to 4% of all live births, and many elective pregnancy
terminations or spontaneous abortions. Every year in the United States, approximately
150 000 babies are born with birth defects.1
Birth defects and genetic diseases are the leading causes of infant deaths
and result in substantial mortality and morbidity throughout childhood.2 Although birth defects account for 15% to 30% of all
pediatric hospitalizations, they exact a proportionally higher health care
cost than other hospitalizations.2-3
Approximately $8 billion is spent annually to provide medical and rehabilitative
care for affected children in the United States.4-5
Thus, birth defects impart a significant burden to families and society.
Although the causes of most birth defects remain unknown, the potential
impact of the Human Genome Project on the understanding of . . . [Full Text of this Article] WHAT IS GENETIC EPIDEMIOLOGY?
IS THERE A GENETIC COMPONENT TO BIRTH DEFECTS?
Familial Aggregation Twin Studies
HOW ARE CANDIDATE GENES IDENTIFIED?
Linkage Analysis
Association Analysis
DO GENES AND ENVIRONMENTAL FACTORS INTERACT IN BIRTH DEFECTS?
THE NATIONAL BIRTH DEFECTS PREVENTION STUDY
COMMENT
From the Arkansas Center for Birth Defects Research and Prevention,
Department of Pediatrics, Arkansas Children's Hospital, University of Arkansas
for Medical Sciences, Little Rock.
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
Paternal age and congenital malformations
Zhu et al.
Hum Reprod 2005;20:3173-3177.
ABSTRACT
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Genetics Update
Jantz et al.
Arch Pediatr Adolesc Med 2002;156:1058-1058.
FULL TEXT
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