Prevalence of major malformations in infant with Down’s syndrome

Objectives. To investigate the prevalence of 35 major malformations (16 cardiac, 19 extracardiac) in infants with Down's Syndrome. Methods. We evaluated a total of 703 clinical records (406 males, 297 females) of patients with Down's Syndrome referred to the Medical Genetics Service of «Bambino Gesù» Hospital. Prevalence of malformations was compared with those reported in another Italian population sample. Results. Out of 703 patients, 246 (35%) had no malformations; 65% (457/703) had one or more malformations: 43% had a congenital heart disease - isolated or associated with another heart malformation, 13% an extracardiac malformation - isolated or associated with another extracardiac malformation, 9% had both cardiac and extracardiac birth defects. The most frequent heart malformations (472 in 366 patients) were atrioventricular canal (28.4%, isolated in 78%), atrial and ventricular septal defects (22.3% and 20.1%, respectively). The most prevalent extracardiac malformations were: duodenal stenosis or atresia (3.9%), cataract (2.1%) and, in the male population, crypthorchism (8.1%) and hypospadias (0.7%). There was no significant association with maternal age or sex. Conclusions. The high prevalence of associated malformations in infants with Down's Syndrome warrants a multidisciplinary approach.