PRE- AND POSTNATAL DIAGNOSIS OF DOWN SYNDROME

Abstract

The article presents an analysis of live births and abortions with confirmed Down syndrome (DS) in Kyiv in 2018-2020. During this period, 86 children with DS were born in Kyiv, which corresponds to an average frequency of 8.6 per 10,000 live births. The frequency of births of children with DS decreased from 10.4 in 2018 to 6.5 in 2020 per 10,000 live births. The percentage of male probands is 59 %, and female – 41 %. Timely diagnosis of DS in live births allows for surgical correction in the presence of congenital malformations and reduces mortality in early childhood.
 Diagnosis of DS at the prenatal stage allows doctors to make decisions on abortion at the request of the woman. The analysis of cases of abortions for the period 2018-2020 shows a tendency to increase the number of aborted pregnancies. The rate of abortions with DS in Kyiv was 40 % in 2018, in 2019 – 52 %, and in 2020 – 67 %. and reached the mark of Western Europe. The high rate of aborted pregnancies correlates with a decrease in the number of births of children with DS during this period. The data show an increase in public awareness of hereditary pathology, an increase in referrals to a geneticist and an increase in the effectiveness of prenatal diagnosis.
 During the period: 2018-2020, there is an increase in medical coverage; genetic counseling; and invasive interventions to establish the karyotype in high-risk women who were included in the high-risk group as a result of combined prenatal screening or had been diagnosed with birth defects or have ultrasound markers of chromosomal pathology. It is established that this pathology occurs in mothers of any age, not only in women over 35 years, which indicates the feasibility of mass use of prenatal diagnosis in all age groups.
 The presented statistical data makes the case to use prenatal testing and how to rationally distribution financial resources. The prospect of further research is to analyze cases of live births and abortions with confirmed DS at the national level.