Newborn screening tests are performed to detect congenital diseases that do not show symptoms in the first months of life and may cause serious consequences for the baby in the future.
What are Newborn Screening Tests?
Diagnosis made as a result of newborn screening tests Thanks to timely preventive treatment, a full recovery can be achieved or the symptoms and negative effects of the disease can be reduced.
Blood screening and hearing tests should be performed for every newborn baby within the first 72 hours.
In these tests, blood is usually taken from the heel; These screening tests are often referred to as the “heel test” and are sent to the screening laboratories in Istanbul and Ankara through the Provincial Health Directorates.
Today, newborn screening tests are a standard screening practice in all developed countries. In our country, within the scope of the National Neonatal Screening Program;
- Phenylketonuria (FKU),
- Biotinidase deficiency (BE),
- Congenital hypothyroidism (CH),
- Cystic fibrosis (CF), In addition, within the scope of the Newborn Hearing Screening Program launched in 2007, the hearing ability of all babies is tested before they are discharged from maternity hospitals by applying the newborn hearing test.
What is Phenylketonuria (PKU)?
Phenylketonuria in newborn babies is an inherited metabolic disease that occurs as a result of deficiency of the phenylalanine hydroxylase enzyme.
Phenylketonuria, also known as PKU and for which early diagnosis is extremely important, is one of the most common causes of preventable mental retardation.
When not diagnosed and treated early; Severe mental retardation occurs because some protein building blocks and substances cannot be eliminated from the body and accumulate in the blood.How is the Phenylketonuria (PKU) Test Performed? How Is It Treated?
Phenylketonuria screening test is performed by taking a blood sample from the baby's heel. Biotinidase Deficiency (BE): What is Biotinidase?
The enzyme biotinidase plays a leading role in the production of the vitamin “biotin”, which is extremely important for our body. If biotinidase deficiency It is seen as a defect in the processing of biotin, one of the B vitamins. It is a hereditary metabolic disease.
If left untreated, due to biotin deficiency; Firstly, skin diseases and then brain development disorders may occur. For this reason, early diagnosis is extremely important.How is Biotinidase Deficiency (BE) Test Performed? How is it Treated?
Biotidinase deficiency screening test is done by taking a blood sample from the baby's heel. Early diagnosis can be made with the screening test, which has been applied since 2009. Diagnosed infants can be treated effectively with vitamin support.
How is the Biotinidase Deficiency (BE) Test Performed? How is it Treated?
Biotidinase deficiency screening test is done by taking a blood sample from the baby's heel. Early diagnosis can be made with the screening test, which has been applied since 2009. Diagnosed babies can be treated effectively with vitamin support.
Congenital Hypothyroidism (CH): What is Congenital Hypothyroidism (CH)?
Congenital (congenital) hypothyroidism, absence of thyroid gland and low It is an endocrinological disease that occurs as a result of the inability to produce enough thyroid hormone to meet the body's needs. Therefore, early diagnosis of congenital (congenital) hypothyroidism is very important for the baby.
Untreated congenital (congenital) hypothyroidism; It causes mental retardation as well as physical development disorders.How is Congenital Hypothyroidism (CH) Test Performed? How Is It Treated?
Congenital hypothyroidism screening test is performed by taking a blood sample from the baby's heel. In infants with a definitive diagnosis of hypothyroidism, thyroid hormone replacement therapy with medication is started.
Detailed information about Hypothyroidism. What is Hypothyroidism? What is Cystic Fibrosis (CF)?
Cystic Fibrosis (CF) is an inherited disease that affects the lungs and digestive system. It occurs as a result of the combination of genes from the mother and father.
Cystic Fibrosis symptoms in babies can occur at different ages.- Frequently recurrent lung infections,
- Excessive foul-smelling and oily stools,
- Weight
Cystic Fibrosis (CF) screening test is performed by taking a blood sample from the baby's heel.
Early diagnosis is extremely important in the treatment of CF disease. Respiratory physiotherapy is effective, especially in the treatment of respiratory tract infections. Special nutrition programs and enzyme supplements are also effective treatment methods for CF.What is the Newborn Hearing Test?
The newborn hearing test is performed for the early diagnosis of possible hearing loss in the baby. .
Hearing loss, which is one of the most common congenital anomalies, is extremely important when not diagnosed early, since it negatively affects speech, language development, learning and communication in the development process. With a simple measurement test performed while sleeping, the response to sound is measured. As a result of the hearing test, babies whose hearing is suspected to be anomaly are evaluated by otolaryngologists and audiometry specialists and appropriate treatment is planned. is of vital importance. In addition to newborn screening tests and newborn hearing test, eye and developmental hip dysplasia screenings are also extremely important tests.
In addition to these scans, in babies 7-10 days after birth;- Consistency status in the parents,
- A history of infant death in the couple's previous babies,
- If the baby has a different metabolic disorder suspected, the baby is given an "Extended Screening" Test” is done.
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