10 years of neonatal screening in the Republican of Kazakhstan: results and prospects
Abstract
According to neonatal screening in the Republic of Kazakhstan for the period since 2007 year to 1 half of 2017 year 2520053 newborns were screened. The middle coverage of neonatal screening in the Republic of Kazakhstan since 2011 year was 73.1%, the middle coverage varies in different regions of the Republic of Kazakhstan. Since 2007year 105 children with phenylketonuria and 336 with congenital hypothyroidism have been identified in the neonatal screening program. The regional features of the frequency of PKU and CH are noted, which can be determined by population characteristics, in particular by ethnic composition, and by the variation in coverage by neonatal screening of regions.
About the Authors
G. S. Svyatova
Scientific Center of Obstetrics, Gynecology and Perinatology
Russian Federation
Russian Federation
D. N. Salimbaeva
Scientific Center of Obstetrics, Gynecology and Perinatology
Russian Federation
Russian Federation
M. S. Kirikbaeva
Scientific Center of Obstetrics, Gynecology and Perinatology
Russian Federation
Russian Federation
G. M. Berezina
Scientific Center of Obstetrics, Gynecology and Perinatology
Russian Federation
Russian Federation
References
1. Тополь Э. Будущее медицины: Ваше здоровье в ваших руках. М.: Альпина нон-фикшн, 2016. - 491 с.
2. Van Karnebeek CDM, Stockler S. Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review. Mol Genet Metab 2012; 105: 368-81.
3. Howell R, Terry S, Tait VF, Olney R, Hilton CF, Grosse S. et al. CDC grand rounds: newborn screening and improved outcomes. MMWR Morb Mortal Wkly Rep 2012; 61: 390-3.
4. Therrell BL, Adams J. Newborn screening in North America. J Inherit Metab Dis 2007; 30: 447-65. doi 10.1515/sjph-2015-0013 Zdrav Var 2015; 54(2): 86-90 89 4.
5. Smon A, Groselj U, Zerjav Tansek M. et al. Newborn Screening in Slovenia. Zdr Varst. 2015 Mar 13;54(2):86-90. doi: 10.1515/sjph-2015-0013. eCollection 2015 Jun.
6. Brosco JP1, Paul DB. The political history of PKU: reflections on 50 years of newborn screening. Pediatrics. 2013 Dec;132(6):987-9. doi: 10.1542/peds.2013-1441. Epub 2013 Nov 25.
7. Bhattacharya K, Wotton T, Wiley V. The evolution of blood-spot newborn screening. Transl Pediatr. 2014 Apr;3(2):63-70. doi: 10.3978/j.issn.2224-4336.2014.03.08.
8. Padilla CD, Therrell BL. Newborn screening in the Asia Pacific region. J Inherit Metab Dis 2007; 30: 490-506.
9. Zhong K1, Wang W1, He F1, Wang Z2.J The status of neonatal screening in China, 2013. Med Screen. 2016 Jun;23(2):59-61. doi: 10.1177/0969141315597715. Epub 2015 Aug 3.
10. The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014 Annika Ohlsson Helene Bruhn Anna Nordenstrеom Rolf H. Zetterstrеom Anna Wedell Ulrika von Dеobeln Received: 21 April 2016 /Revised: 20 June 2016 /Accepted: 23 June 2016 # SSIEM and Springer-Verlag Berlin Heidelberg 2016 JIMD Reports DOI 10.1007/8904_2016_4
11. Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries Mojca Zerjav Tansek1, Urh Groselj1*, Natalija Angelkova2 , Dana Anton3 , Ivo Baric4,21, Maja Djordjevic5 , Lindita Grimci6 , Maria Ivanova7, Adil Kadam8, Vjosa Kotori9 , Hajrija Maksic10, Oana Marginean11, Otilia Margineanu12, Olivera Miljanovic15, Florentina Moldovanu13, Mariana Muresan14, Michaela Nanu13, Mira Samardzic15, Vladimir Sarnavka4 , Aleksei Savov7 , Maja Stojiljkovic16, Biljana Suzic17, Radka Tincheva8 , Husref Tahirovic18, Alma Toromanovic19, Natalia Usurelu20 and Tadej Battelino1,22* Zerjav Tansek et al. Orphanet Journal of Rare Diseases (2015) 10:68 DOI 10.1186/s13023-015-0283-0
12. EU Network of Experts on Newborn Screening, 2011
13. Burgard P, Cornel M, Filippo FD. Report on the practices of newborn screening for rare disorders implemented in member states of the European Union, candidate, potential candidate and EFTA countries. 2012. 5.
14. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Jerry Vockley, MD, PhD1,2, Hans C. Andersson, MD3, Kevin M. Antshel, PhD4, Nancy E. Braverman, MD5, Barbara K. Burton, MD6, Dianne M. Frazier, PhD, MPH7, John Mitchell, MD5, Wendy E. Smith, MD8, Barry H. Thompson, MD9 and Susan A. Berry, MD10; For the American College of Medical Genetics and Genomics Therapeutic Committee ACMG Practice Guidelines
Review
For citations:
Svyatova G.S., Salimbaeva D.N., Kirikbaeva M.S., Berezina G.M. 10 years of neonatal screening in the Republican of Kazakhstan: results and prospects. Medical Genetics. 2017;16(10):14-17. (In Russ.)
Views:
824
Email this article 