TY - JOUR
T1 - Ethnicity, sex, and the incidence of congenital heart defects
T2 - A report from the National Down Syndrome Project
AU - Freeman, Sallie B.
AU - Bean, Lora H.
AU - Allen, Emily G.
AU - Tinker, Stuart W.
AU - Locke, Adam
AU - Druschel, Charlotte
AU - Hobbs, Charlotte A.
AU - Romitti, Paul A.
AU - Royle, Marjorie H.
AU - Torfs, Claudine P.
AU - Dooley, Kenneth J.
AU - Sherman, Stephanie L.
PY - 2008/3
Y1 - 2008/3
N2 - PURPOSE: The population-based National Down Syndrome Project combined epidemiological and molecular methods to study congenital heart defects in Down syndrome. METHODS: Between 2000 and 2004, six sites collected DNA, clinical, and epidemiological information on parents and infants. We used logistic regression to examine factors associated with the most common Down syndrome-associated heart defects. RESULTS: Of 1469 eligible infants, major cardiac defects were present in 44%; atrioventricular septal defect (39%), secundum atrial septal defect (42%), ventricular septal defect (43%), and tetralogy of Fallot (6%). Atrioventricular septal defects showed the most significant sex and ethnic differences with twice as many affected females (odds ratio, 1.93; 95% confidence interval, 1.40-2.67) and, compared with whites, twice as many blacks (odds ratio, 2.06; 95% confidence interval, 1.32-3.21) and half as many Hispanics (odds ratio, 0.48; 95% confidence interval, 0.30-0.77). No associations were found with origin of the nondisjunction error or with the presence of gastrointestinal defects. CONCLUSIONS: Sex and ethnic differences exist for atrioventricular septal defects in Down syndrome. Identification of genetic and environmental risk factors associated with these differences is essential to our understanding of the etiology of congenital heart defects.
AB - PURPOSE: The population-based National Down Syndrome Project combined epidemiological and molecular methods to study congenital heart defects in Down syndrome. METHODS: Between 2000 and 2004, six sites collected DNA, clinical, and epidemiological information on parents and infants. We used logistic regression to examine factors associated with the most common Down syndrome-associated heart defects. RESULTS: Of 1469 eligible infants, major cardiac defects were present in 44%; atrioventricular septal defect (39%), secundum atrial septal defect (42%), ventricular septal defect (43%), and tetralogy of Fallot (6%). Atrioventricular septal defects showed the most significant sex and ethnic differences with twice as many affected females (odds ratio, 1.93; 95% confidence interval, 1.40-2.67) and, compared with whites, twice as many blacks (odds ratio, 2.06; 95% confidence interval, 1.32-3.21) and half as many Hispanics (odds ratio, 0.48; 95% confidence interval, 0.30-0.77). No associations were found with origin of the nondisjunction error or with the presence of gastrointestinal defects. CONCLUSIONS: Sex and ethnic differences exist for atrioventricular septal defects in Down syndrome. Identification of genetic and environmental risk factors associated with these differences is essential to our understanding of the etiology of congenital heart defects.
KW - Ancestral informative markers
KW - Atrioventricular septal defect
KW - Congenital heart defects
KW - Down syndrome
KW - Ethnicity
KW - Gender
KW - Maternal age
KW - Race
KW - Sex
KW - Trisomy 21
UR - http://www.scopus.com/inward/record.url?scp=40949096534&partnerID=8YFLogxK
U2 - 10.1097/GIM.0b013e3181634867
DO - 10.1097/GIM.0b013e3181634867
M3 - Article
C2 - 18344706
AN - SCOPUS:40949096534
SN - 1098-3600
VL - 10
SP - 173
EP - 180
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 3
ER -