After the baby is born, 6 diseases are screened within the framework of the Turkish National Newborn Screening Program.

• Phenylketonuria
• Conjenital Hypothyroid
• Cystic fibrosis
• Conjenital adrenal hyperplasia
• Congenital biotinidase deficiency
• Spinal muscular atrophy

Why are these diseases screened among all diseases?

Early treatment of these diseases can prevent or reduce the irreversible effects of the disease before they start.

When is it taken?

• The first sample is taken after birth.
• A second sample is taken during the first week after birth.

(If any risky condition is detected in the tests, repeat or confirmatory tests may be requested).

Conjenital Hypothyroid

In the newborn period, signs and symptoms are not obvious in the majority of cases. The baby appears quite normal. This is determined by the hormone levels in the heel prick.

In untreated or delayed cases, severe mental retardation and asymmetric dwarfism occur. If left completely untreated, permanent mental retardation occurs. Treatment is very easy, cheap and safe.

Phenylketonuria

Phenylketonuria is an inherited metabolic disorder. The disease is transmitted from mother and father to the baby through genes.
If the disease is not diagnosed early or treatment is not started, severe mental retardation, convulsions and seizures, aggressive or autistic behavioral disorders, and skin lesions in the form of dermatitis may occur.
Treatment is simple and involves only appropriate diet. However, if treatment is delayed, the symptoms are irreversible.

Congenital biotinidase deficiency

It is a genetic disorder characterized by congenital complete or partial deficiency of the enzyme biotinidase.
There is a wide range of clinical picture including disorders caused by acid-base imbalance in the body, skin problems such as partial hair loss, hearing and vision loss, convulsions and various neurological findings.
Delays in diagnosis and treatment lead to neurological disorders and death.
The treatment is biotin, which is very simple and safe.

Cystic fibrosis

It is an inherited disease that makes the secretions of secretory cells dark and sticky.

The lungs, endocrine and digestive systems are most commonly affected. These abnormal secretions accumulate in the airways, allowing germs to settle, causing recurrent and severe lung infections. These recurrent infections cause progressive lung damage.

Early diagnosis aims to slow the course of the disease and improve quality of life. Supportive treatment continues for life.

Conjenital adrenal hyperplasia

Congenital adrenal hyperplasia is a disease in which the adrenal glands do not make enough cortisol (and sometimes the hormone that regulates the body’s salt balance: aldosterone), which is essential for life, and produce excessive male hormones.
Due to excessive exposure to male hormones, baby girls develop masculine external genitalia and female internal genitalia (uterus and ovaries). Male babies look completely normal at birth.

Spinal muscle distrofi

It is a genetically inherited muscle disease. There are 5 reported subtypes. The clinical condition becomes milder as you go from 0 to 5. Since 2021, every newborn baby is screened. It is followed up to prevent complications that may occur with early diagnosis. There is currently no known cure. Gene therapy research is ongoing and some results are encouraging.