Newborn screenings are used to detect certain diseases in advance, to take necessary precautions and to start treatment in the early period. In this way, diseases, disabilities and deaths are prevented. Screenings also enable diseases to be treated in the early stages at a more affordable cost.

Newborn screenings are used to detect certain diseases in advance, to take necessary precautions and to start treatment in the early period. In this way, diseases, disabilities and deaths are prevented. Screenings also enable diseases to be treated in the early stages at a more affordable cost. Since most of the diseases screened bring serious treatment costs in the future, significant reductions in health costs are seen when diagnosed in the early period. This explains why newborn screening programs are provided free of charge by governments in many countries.

Screening tests are applied to all newborn babies who are healthy or show signs of illness. They are usually simple tests, do not harm the baby during the procedure, do not cause pain. It has an important place among public health programs.



For the first time in history, newborns were screened for phenylketonuria in 1960. In 1973, congenital hypothyroidism and in 1989 congenital metabolic diseases were started to be screened.

Newborn screening tests are not diagnostic for the diseases tested. It can give false positive or false negative results.

General characteristics of the screening tests to be applied: 

  • It is used to screen a common disease in the community,
  • The disease described must be treatable,
  • If the described disease is not treated, it should cause severe damage,
  • The screening test should be inexpensive and easily applicable.
  • The screening test should not harm the baby,
  • Test results should come out in a short time,
  • False positive results should be excluded with other tests.
  • False negative rate should be low,
  • It must be reliable.

Application time of screening tests: 

Families should be informed about screening tests during pregnancy and especially in the weeks close to birth. The reason for the application of the screening test, the method of application and possible results should be explained. This increases both compliance and participation in screening tests.

Sample collection time for screening tests is ideally 3-7. for days. However, it can also be taken during postpartum discharge to increase compliance. A minimum of 24 hours of feeding is required for screening for phenylketonuria. During sample collection, the baby’s heel is heated, disinfected and a few drops of blood are taken from the outer edges of the heel. The blood taken is absorbed into the sample paper. The impregnated surface must be at least 6 mm in diameter and must pass into the back surface.



In addition, hearing screening, vision screening, congenital hip dislocation screening are performed at the appropriate time in the newborn.

Diseases for which newborn screening test is performed: 

The diseases examined in the heel blood are:

  • Phenylketonuria,
  • Congenital hypothyroidism,
  • Congenital adrenal hyperplasia,
  • Biotidinase deficiency,
  • Cystic fibrosis,
  • SMA (Spinal muscular atrophy),

Other scans done:

  • Hearing screening,
  • Vision scan,
  • Congenital hip dislocation,
  • congenital heart disease,
  • Congenital cataract scans.



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