Congenital defects among liveborn infants with Down syndrome.
BACKGROUND
Many infants with Down syndrome (DS) have co-occurring congenital malformations requiring intensive surgical and medical management. To anticipate the care needed by these infants, providers and parents require accurate information about birth defects that may be present. This article uses a unique national hospital discharge dataset to identify the rate at which structural birth defects are identified among liveborn infants with DS.


METHODS
ICD-9-CM diagnosis codes for data from the Healthcare Cost and Utilization Project were used to identify infants with and without DS, and to classify birth defects. The study population consisted of liveborn infants discharged from the hospital from 1993 through 2002. ORs for the association between the occurrence of congenital malformations and the presence of DS were computed using logistic regression models for survey data.


RESULTS
Discharge data included 11,372 DS and 7,884,209 non-DS births, representing national estimates of 43,463 DS and 39,716,469 non-DS births respectively. In addition to congenital heart defects that co-occurred most often in DS infants compared to infants without DS, the risks for gastrointestinal malformations (OR 67.07), genitourinary malformations (OR 3.62), orofacial malformations (OR 5.63), and abdominal wall malformations (OR 3.25) were also elevated in infants with DS. There was no difference in the risk of spina bifida between infants with and without DS.


CONCLUSIONS
This is the first nationally representative compilation of the co-occurrence of congenital malformations associated with DS. This information may assist providers and parents in their attempts to understand and prepare for the true burden of this condition.
Cleves
Mario A
MA
Arkansas Center for Birth Defects Research and Prevention, Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, and Arkansas Children's Hospital, Little Rock, Arkansas 72202, USA. clevesmarioa@uams.edu
Hobbs
Charlotte A
CA
Cleves
Phillip A
PA
Tilford
John M
JM
Bird
T M
TM
Robbins
James M
JM
D002490:Central Nervous System / Q000002:abnormalities; D000013:Congenital Abnormalities / Q000473:pathology* / Q000628:therapy; D016208:Databases, Factual; D004314:Down Syndrome / Q000473:pathology* / Q000628:therapy; D004423:Ear / Q000002:abnormalities; D005124:Eye Abnormalities / Q000473:pathology; D005260:Female; D006285:Health Planning; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014481:United States