Actuality. According to recent studies, congenital malformations are found in 4.0-6.0% of newborns, and their share in the structure of infant mortality is more than 20.0% . (Bochkov N.P., 2017).
Down Syndrome (DS), a socially significant disease that is not amenable to treatment or postnatal correction, is a big problem for the family and society as a whole [R.J. McGrath. 2016).
Aim of reserch: To conduct a clinical and anamnestic study in newborns with Down syndrome.
Materials and research methods. We observed 12 newborns with a diagnosis of Down Syndrome. A retrospective analysis was carried out according to the 5th Children Clinical Hospital of Tashkent. We have studied clinical and medical history data and conducted a clinical examination of newborns.
The results of the study. The diagnosis of Down syndrome was established on the basis of anamnesis, clinical data and genetic studies. We found that in 5 children (41.6%) the hereditary variant was revealed, and in 7 (58.4%) children the non-hereditary variant.
From the history of the mother, risk factors that could lead to the disease were identified: mother's age above 35 years was observed in 5 (41.6%) children, bad habits were found in mothers of 3 (25%) children, chronic diseases in one (8.3%) mothers, the presence of hereditary diseases was detected in mothers of 3 (25%) children.
External signs and congenital malformations were determined. Of these, 6 (50%) children met with CHD, among which 4 (33.3%) children had ventricular septal defect, and 2 (16.6%) children had atrial septal defect . In 2 (16.6%) children, stenosis and atresia of the duodenum were noted, in 3 (25%) children brachycephaly was detected. Epicanthus was found among external signs in 10 (83.3%) children, joint hypermobility in 8 (66.6%) children, muscular hypotension in 8 (66.6%) children, flat occiput in 9 (75%) children, short limbs in 11 (91.6%) children, brachymesophalangia - in 11 (91.6%) children. These births were the first in 3 (25%) mothers, the second in 4 (33.3%), the third in 3 (25%), the fourth in 2 (16.6%), the fifth in 1 (8.3%), and the sixth in 1 (8.3%) mothers. Among the examined newborns with a gestational age of 22-28 weeks, 7 (58.3%) were born, in 35 - 36 weeks - 5 (41.6%). Asphyxia in childbirth of moderate severity was suffered by 5 (41.6%) children, severe asphyxia - 2 (16.6%).
Conclusions. Thus, the obtained results showed that Down syndrome is most often associated with diseases such as congenital heart defects, among which there is the most common ventricular septal defect and atrial septal defect, as well as congenital anomalies of the gastrointestinal tract.