Department of Child and Adolescent Health, Public Health Institution of Turkey, Ankara, Turkey.
J Clin Lab Anal. 2014 Jan;28(1):63-9. doi: 10.1002/jcla.21645. Epub 2013 Dec 27.
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.
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.
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.
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.
新生儿筛查测试旨在识别出患有严重疾病的婴儿，这些疾病在土耳其较为普遍，且可治疗或控制。与其他国家相比，土耳其的近亲结婚率较高，因此这些疾病的发病率非常高。
本文旨在评估土耳其新生儿筛查计划的发展和组织，这些计划包括苯丙酮尿症、先天性甲状腺功能减退症和生物素酶缺乏症筛查。讨论了该计划目前的进展、局限性、未来的期望和项目。
如今，该国筛查计划的进展值得赞赏。1987 年，活产婴儿的筛查率为 4.7%，到 2008 年，这一比例达到 95%。卫生部 2010-2014 年战略计划中对新生儿筛查计划的预测目标是到 2012 年底将这一比例提高到 95%以上。似乎已经达到了预期目标。
由于政治决心和负责该计划的医疗保健工作者的表现，国家新生儿筛查计划似乎已成功且广泛开展。然而，营养和代谢诊所以及这些领域的专家数量有限，导致了一些就诊困难、浪费时间和经济损失。因此，进行专门规划以提高诊所的质量和数量将是有益的。
