title: Congenital Heart Defects and Measures of Fetal Growth in Newborns with Down Syndrome or 22q11.2 Deletion Syndrome.
abstract: To estimate the association between congenital heart defects (CHD) and indices of fetal growth in Down and 22q11.2 deletion syndromes.
  
  
  
  We established 2 Danish nationwide cohorts of newborn singletons with either Down syndrome (n = 670) or 22q11.2 deletion syndrome (n = 155), born 1997-2011. In both cohorts, we analyzed the association between CHD, CHD severity, and indices of fetal growth by multivariable linear regression adjusted for potential confounders. We report mean differences in gestational age specific z-scores compared with newborns without CHD.
  
  
  
  Down syndrome and 22q11.2 deletion syndrome were both associated with lower mean birth weight and head circumference z-scores. We found no association between CHD or CHD severity and indices of fetal growth. In Down syndrome, the association between any CHD and the mean difference in head circumference z-score was 0.03 (95% CI -0.12, 0.18), and the estimate regarding birth weight z-score was 0.09 (95% CI -0.08, 0.25). The corresponding estimates in 22q11.2 deletion syndrome were 0.00 (95% CI -0.33, 0.32) and -0.09 (95% CI -0.45, 0.26).
  
  
  
  We found no association between CHD and fetal growth measures in newborns with Down syndrome or 22q11.2 deletion syndrome. Thus, in certain subtypes of CHD, the contribution of genetic factors to prenatal growth impairment may be more important than circulatory disturbances.
authors.affiliation: Centre for Rare Diseases and Perinatal Epidemiology Research Unit, Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark; Horsens Regional Hospital, Horsens, Denmark. Electronic address: nielsbm@ki.au.dk.
authors.forename: Niels B
authors.initials: NB
authors.lastname: Matthiesen
authors.affiliation: Centre for Rare Diseases, Department of Pediatrics, Aarhus University Hospital, Denmark.
authors.forename: Peter
authors.initials: P
authors.lastname: Agergaard
authors.affiliation: Perinatal Epidemiology Research Unit, Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark.
authors.forename: Tine B
authors.initials: TB
authors.lastname: Henriksen
authors.affiliation: Perinatal Epidemiology Research Unit, Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark.
authors.forename: Cathrine C
authors.initials: CC
authors.lastname: Bach
authors.affiliation: Division of Cardiothoracic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA.
authors.forename: J William
authors.initials: JW
authors.lastname: Gaynor
authors.affiliation: Department of Cardiothoracic Surgery, Aarhus University Hospital, Aarhus, Denmark.
authors.forename: Vibeke
authors.initials: V
authors.lastname: Hjortdal
authors.affiliation: Centre for Rare Diseases, Department of Pediatrics, Aarhus University Hospital, Denmark.
authors.forename: John R
authors.initials: JR
authors.lastname: Østergaard
mesh_terms: D001724:Birth Weight; D002508:Cephalometry; D004062:DiGeorge Syndrome / Q000196:embryology*; D004314:Down Syndrome / Q000196:embryology*; D005260:Female; D047109:Fetal Development / Q000235:genetics / Q000502:physiology; D006257:Head / Q000033:anatomy & histology / Q000196:embryology; D006330:Heart Defects, Congenital / Q000196:embryology*; D006801:Humans; D007231:Infant, Newborn; D016014:Linear Models; D008297:Male; D012042:Registries; D012720:Severity of Illness Index
keywords: 22q11.2 deletion syndrome; Down syndrome; birth weight; congenital heart defects; epidemiology; fetal growth; head circumference