ad. 32. What is the Down Syndrome?
It is an incurable genetic disorder conditioned by the presence of additional, third chromosome 21, thus called trisomy 21. The frequency of appearance in a population is ab. 1 in 1,000 live births. The Down syndrome is connected with different levels of mental impairment, more frequent congenital defects, most commonly atrioventricular septal defect, alimentary canal defects such as duodenal atresia and the Hirschsprung’s disease, leukemia, hydrocephalus, microcephaly, dismorphic face, urinary tract defects and a number of typical appearance characteristics. The only method of verifying the Down syndrome is the chromosome assessment, which in a fetal life is carried out with the use of amniocentesis, chorionic villus sampling or fetal blood sampling; and after birth on the basis of a baby’s blood test.