From the first days of independence, the formation of a healthy family, strengthening the health of women and children, and raising a healthy generation have become one of the priorities of state policy. To this end, a number of national measures have been implemented in the country to improve the health of mothers and children and to develop special services to prevent disability caused by congenital and hereditary diseases.
It is impossible to reduce the rates of child mortality and child disability without improving the medical genetic services, antenatal diagnosis to detect defects in the fetus and screening for hereditary diseases in infants.
Taking into account not only the medical, but also the social significance of the problem, by the Resolution of the Cabinet of Ministers of April 1, 1998 No. 140, the State program for the early detection of congenital and other pathologies in newborns and pregnant women was adopted to prevent the birth of disabled people from childhood, “Screening of mother and child” providing a complex of events designed for a five-year period.
Currently, the Fund is implementing a number of activities in recent years on the implementation of the Decree of the President of the Republic of Uzbekistan No. PP-3440 dated December 25, 2017 “On the State Program for the Early Detection of Congenital and Hereditary Diseases in Children for the Period 2018-2022”.
On October 25, 2011, at the Republican Center for Screening of Mother and Child, diagnostic kits and consumables were transferred for the smooth operation of screening centers of the republic.
The structure of screening centers consists of 13 regional and Republican screening centers in Tashkent, covering screening studies of pregnant women and newborns throughout the republic.
As a result of the measures taken, the number of children born with congenital malformations decreased by 1.8 times compared to 2000.
In the first 9 months of 2019, 49 9584 newborns were examined for hepatitis B (congenital hypothyroidism) and 49 9584 for PKU (phenylketonuria) by the Republican and Regional Screening Centers for the early detection of birth defects in pregnant women and infants. According to the results of the study, congenital hypothyroidism was detected in 6717 newborns, and in 3151 was prone to phenylketonuria. They are provided with free medicines and free baby food through the Republican Screening Center and its affiliates.
It is planned to direct 90.0 million soums and 30 million 840.4 thousand US dollars for the implementation of this State program, of which 28.0 million 466.9 thousand US dollars from the State budget and 90 million soums and 2 million 375 thousand US dollars from the funds of the Soglom Avlod Uchun Fund.
As of October 23 of this year The Fund did a great job to implement this State Program for 2019, in particular, diagnostic reagents and consumables in full were planned for this year in the screening centers of the republic. In addition, the Fund plans to supply consumables in the form of humanitarian aid before the end of this year as part of the state program. Screening is an examination of large contingents of the population with the aim of early detection of congenital and hereditary pathologies.
The main goal of the screening center is to provide specialized medical and genetic assistance to pregnant women in order to prevent the birth of a child with congenital malformations or a disabling disease and children with a hereditary pathology.
Prenatal diagnosis allows you to determine the state of health of the fetus during pregnancy. The main goal of prenatal diagnosis is to determine whether a child developing in the womb is healthy and, therefore, to prevent the birth of a child who has congenital malformations or disabling diseases.
Mass neonatal screening for phenylketonuria and congenital hypothyroidism covered all newborns of the Republic of Uzbekistan. Sick children identified during screening studies are registered in screening centers, receiving medical nutrition and drug therapy.
Medical and genetic counseling is carried out by specialists in various fields: geneticist, neuropathologist, endocrinologist, gynecologist.
The main indications for consultation are establishing the cause of congenital malformations and clarifying the diagnosis of hereditary disease, as well as medical and genetic counseling of couples on prognosis of offspring in the presence of a patient with a hereditary disease in the family.
The measures taken to implement the program contribute to the reduction of child disability due to congenital and hereditary pathology among the population of our country.
Further development of screening centers aimed at creating conditions for the birth of a healthy generation will contribute to the preservation of the gene pool of our country.
The international charity foundation “Sog`lom avlod uchun” expresses its gratitude to all organizations, sponsors and the media that helped to implement these charitable events.