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http://lib.inmeds.com.ua:8080/jspui/handle/lib/5001Повний запис метаданих
| Поле DC | Значення | Мова |
|---|---|---|
| dc.contributor.author | Ольхович, Н. | - |
| dc.contributor.author | Самоненко, Н. | - |
| dc.contributor.author | Барвінська, О. | - |
| dc.contributor.author | Мицик, Н. | - |
| dc.contributor.author | Живиця, Ю. | - |
| dc.contributor.author | Тимрук, Ю. | - |
| dc.contributor.author | Куцик, О. | - |
| dc.contributor.author | Нагнібеда, І. | - |
| dc.contributor.author | Фрунцевич, Н. | - |
| dc.contributor.author | Пацьора, М. | - |
| dc.contributor.author | Шлклярська, Т. | - |
| dc.contributor.author | Хайдей, М. | - |
| dc.contributor.author | Горовенко, Н. | - |
| dc.date.accessioned | 2024-11-13T13:14:02Z | - |
| dc.date.available | 2024-11-13T13:14:02Z | - |
| dc.date.issued | 2024 | - |
| dc.identifier.citation | https://doi.org/10.1038/s41431-023-01482-x | uk_UK |
| dc.identifier.issn | https://doi.org/10.1038/s41431-023-01482-x | - |
| dc.identifier.uri | http://lib.inmeds.com.ua:8080/jspui/handle/lib/5001 | - |
| dc.description | Aim: Despite the martial law and the occupation of part of Ukraine, we were laying the groundwork for the rapid introduction of expanded neonatal screening in Ukraine. Methods: The service is free for all babies born in Ukraine. The entire process of neonatal screening is monitored and recorded in the electronic health care system: from the registration of the newborn and the taking of blood samples by the doctor to the processing of the referral by the laboratory technician and the recording of the diagnostic report. Results: The pilot launch started in 12 regions of Ukraine – northern and western parts of the country. Laboratory tests according to the neonatal screening program are carried out by two regional centers of neonatal screening in Kyiv and Lviv. Pre- war population 130 000 newborns per year. During four months of work, approximately 32,000 newborns were screened, as a result 20 patients were identi fi ed. Transitory metabolic disturbances were found in 10 patients. Conclusions: Expansion of the neonatal screening program and digitalization of processes will make it possible to timely identify the risks and timely treatment of orphan diseases in infants and prevent their clinical manifestations as soon as pos | uk_UK |
| dc.description.abstract | Newborn screening for selected endocrine, meta- bolic, and genetic disorders has been part of public health systems for more than 50 years with all developed countries worldwide. In October 2022, expanded newborn screening for 21 diseases, including metabolic disorders, SMA, and SCID, began in Ukraine. | uk_UK |
| dc.language.iso | en | uk_UK |
| dc.publisher | European Journal of Human Genetics | uk_UK |
| dc.relation.ispartofseries | Vol. 32, Suppl. 1.;P. 718-719. | - |
| dc.subject | newborn screening in Ukraine | uk_UK |
| dc.subject | orphan diseases in infants | uk_UK |
| dc.title | Expanded newborn screening in Ukraine: fourmonth experience | uk_UK |
| dc.type | Thesis | uk_UK |
| Розташовується у зібраннях: | Кафедра медичної та лабораторної генетики | |
Файли цього матеріалу:
| Файл | Опис | Розмір | Формат | |
|---|---|---|---|---|
| Expanded newborn screening in Ukraine_ fourmonth experience.docx | 359.62 kB | Microsoft Word XML | Переглянути/Відкрити |
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