Literature DB >> 24375520

The development and organization of newborn screening programs in Turkey.

Başak Tezel1, Dilek Dilli, Hilal Bolat, Hatice Sahman, Sema Ozbaş, Deniz Acıcan, Mustafa Ertek, Mehmet Rıfat Köse, Uğur Dilmen.   

Abstract

BACKGROUND: Newborn screening tests have been designed to identify infants with severe disorders that are relatively prevalent and treatable or controllable. Comparing to other countries, the incidence of these diseases are very high in Turkey where the rate of consanguineous marriage is high.
METHODS: In this article, it is aimed to evaluate the development and organization of newborn screening programs in Turkey which include phenylketonuria, congenital hypothyroidism and biotinidase deficiency screenings. The point reached today, limitations of the program, expectations and projects for the future are discussed.
RESULTS: Today, the point reached in screening programs of the country is appreciable. While the screening rate of the live born babies was 4,7% in 1987, this rate reached to 95% by 2008. Predicted target for newborn screening program at the strategic plan of Ministry of Health for 2010-2014 was to enhance this rate above 95% by the end of 2012. It seems that the envisaged goal has been reached.
CONCLUSION: National newborn screening program appears to be conducted successfully and extensively as a result of political determination and performance of health care workers who are in charge of this program. Nevertheless, limited numbers of the nutrition and metabolism clinics and specialists on these branches have caused some access difficulties, waste of time, and financial loss. Therefore, special planning to improve quality and the number of the clinics would be useful.
© 2013 Wiley Periodicals, Inc.

Entities:  

Keywords:  biotinidase deficiency; congenital hypothyroidism; newborn screening; phenylketonuria

Mesh:

Year:  2013        PMID: 24375520      PMCID: PMC6807568          DOI: 10.1002/jcla.21645

Source DB:  PubMed          Journal:  J Clin Lab Anal        ISSN: 0887-8013            Impact factor:   2.352


  18 in total

1.  A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.

Authors:  R GUTHRIE; A SUSI
Journal:  Pediatrics       Date:  1963-09       Impact factor: 7.124

2.  Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance.

Authors:  Peter Burgard; Kathrin Rupp; Martin Lindner; Gisela Haege; Tessel Rigter; Stephanie S Weinreich; J Gerard Loeber; Domenica Taruscio; Luciano Vittozzi; Martina C Cornel; Georg F Hoffmann
Journal:  J Inherit Metab Dis       Date:  2012-04-28       Impact factor: 4.982

Review 3.  Expanded newborn screening: social and ethical issues.

Authors:  Jean-Louis Dhondt
Journal:  J Inherit Metab Dis       Date:  2010-06-11       Impact factor: 4.982

4.  International perspectives on newborn screening.

Authors:  R J Pollitt
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

5.  Newborn PKU screening in Turkey: at present and organization for future.

Authors:  I Ozalp; T Coşkun; A Tokatli; H S Kalkanoğlu; A Dursun; S Tokol; G Köksal; M Ozgüc; R Köse
Journal:  Turk J Pediatr       Date:  2001 Apr-Jun       Impact factor: 0.552

6.  Public accountability of newborn screening: collective knowing and deciding.

Authors:  Bernhard Wieser
Journal:  Soc Sci Med       Date:  2010-01-12       Impact factor: 4.634

7.  Incidence of biotinidase deficiency in Turkish newborns.

Authors:  T Baykal; G Hüner; G Sarbat; M Demirkol
Journal:  Acta Paediatr       Date:  1998-10       Impact factor: 2.299

8.  Screening for congenital hypothyroidism in Turkey.

Authors:  N Yordam; A S Calikoğlu; S Hatun; N Kandemir; H Oğuz; T Teziç; I Ozalp
Journal:  Eur J Pediatr       Date:  1995-08       Impact factor: 3.183

9.  Second International Conference on Neonatal Thyroid Screening: progress report.

Authors:  D A Fisher
Journal:  J Pediatr       Date:  1983-05       Impact factor: 4.406

10.  Neonatal screening in Europe; the situation in 2004.

Authors:  J Gerard Loeber
Journal:  J Inherit Metab Dis       Date:  2007-07-06       Impact factor: 4.982

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  8 in total

Review 1.  Clinical utility gene card for: Biotinidase deficiency-update 2015.

Authors:  Sébastien Küry; Vincent Ramaekers; Stéphane Bézieau; Barry Wolf
Journal:  Eur J Hum Genet       Date:  2015-11-18       Impact factor: 4.246

Review 2.  Expanded newborn bloodspot screening: developed country examples and what can be done in Turkey.

Authors:  Çağlar Fidan; Hüseyin Örün; Aslı Begüm Alper; Çiğdem Naz Ünver; Ömer Can Şahin; Zeynep Uğurlu; Recep Akdur; Domenica Taruscio
Journal:  Intractable Rare Dis Res       Date:  2022-05

3.  Biochemical screening of intellectually disabled and healthy children in Punjab, Pakistan: differences in liver function test and lipid profiles.

Authors:  Muhammad Wasim; Haq Nawaz Khan; Hina Ayesha; Fazli Rabbi Awan
Journal:  Int J Dev Disabil       Date:  2019-01-15

4.  The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.

Authors:  Yajie Su; Huijun Wang; Nuerya Rejiafu; Bingbing Wu; Haili Jiang; Hongbo Chen; Xian A; Yanyan Qian; Mingzhu Li; Yulan Lu; Yan Ren; Long Li; Wenhao Zhou
Journal:  Ann Transl Med       Date:  2019-06

5.  Incidence of Neonatal Hyperphenylalaninemia Based on High-performance Liquid Chromatography Confirmatory Technique in Mazandaran Province, Northern Iran (2007-2015).

Authors:  Ali Abbaskhanian; Daniel Zamanfar; Parvaneh Afshar; Einollah Asadpoor; Hamed Rouhanizadeh; Ali Jafarnia; Mohammad Shokzadeh
Journal:  Int J Prev Med       Date:  2017-11-07

6.  Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency.

Authors:  Sevgin Özlem Işeri-Erten; Zeliha Günnur Dikmen; Nuriye Nuray Ulusu
Journal:  J Med Biochem       Date:  2016-05-09       Impact factor: 3.402

7.  Newborn Screening: From the Past to the Future.

Authors:  Ayşe Çiğdem Aktuğlu Zeybek
Journal:  Turk Arch Pediatr       Date:  2022-09

8.  Cord Blood Karyotyping: A Safe and Non-Invasive Method for Postnatal Testing of Assisted Reproductive Technology Children.

Authors:  Shabnam Zarei Moradi; Najmehsadat Masoudi; Anahita Mohseni Meybodi; Khadijeh Anisi Hemaseh; Ramin Mozafari Kermani; Abolhasan Shahzadeh Fazeli; Hamid Gourabi
Journal:  Int J Fertil Steril       Date:  2016-09-05
  8 in total

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