The development and organization of newborn screening programs in Turkey

Area of Science:

• Public Health
• Pediatrics
• Genetics

Background:

• Newborn screening identifies severe, treatable infant disorders.
• Turkey has a high incidence of these disorders due to consanguineous marriage.
• Screening is crucial for early intervention in high-risk populations.

Purpose of the Study:

• To evaluate the development and organization of newborn screening programs in Turkey.
• To discuss the current status, limitations, and future of these programs.
• Focus on phenylketonuria, congenital hypothyroidism, and biotinidase deficiency screenings.

Main Methods:

• Review of the national newborn screening program's progress.
• Analysis of screening rates and program goals.
• Discussion of challenges and future strategies.

Main Results:

• Newborn screening rates in Turkey increased significantly from 4.7% in 1987 to 95% by 2008.
• The program successfully met its 2012 goal of exceeding 95% screening coverage.
• The national program demonstrates successful implementation and extensive reach.

Conclusions:

• The national newborn screening program in Turkey is largely successful due to political will and healthcare worker dedication.
• Limited nutrition and metabolism clinics and specialists create access barriers and inefficiencies.
• Improving the quality and number of specialized clinics is recommended for enhanced program effectiveness.