Heel blood screening applied to newborn babies provides the opportunity to diagnose some congenital diseases before they cause permanent damage. Heel blood screening is two-stage, the first stage is carried out in the hospital within the first 48 hours after birth, and it is applied by taking a few drops of blood from the heel of newborn babies with the help of a small needle and impregnating special papers with blood. However, since the first blood sample is taken from babies in the early period, it may not give full results if the babies are not fed enough yet. For this reason, the second stage is carried out 1 week later in the family medicine (or hospital where the birth was given) by taking a sample of heel blood once again, and in this way, the time passes for the substances expected to accumulate in the body to increase with the increase in nutrition in sick babies.
Why Do Babies Get Heel Blood?
The purpose of newborn screening is to detect life- or long-term health-threatening diseases before they become obvious. These diseases include congenital metabolic diseases, endocrine disorders, blood diseases such as thalassemia, sickle cell anemia, immunodeficiency, cystic fibrosis and severe congenital heart defects. Early treatment of these rare disorders can significantly reduce the likelihood of serious disability and death in affected patients. In order to investigate whether these diseases are present in your baby, a sample of heel blood should be taken.
How to Determine the Diseases Included in the Screening Program?
In determining the diseases included in the screening program ; Factors such as the prevalence of those diseases in the community, the possibility of easy diagnosis and treatment, and the possibility of preventing severe damage when treated early are important factors. Phenylketonuria, Hypothyroidism, Cystic Fibrosis, Biotinidase, Congenital Adrenal Hyperplasia (CAH), Spinal Muscular Atrophy (SMA) diseases are screened by newborn heel blood screening in our country.
Phenylketonuria, Hypothyroidism, Cystic Fibrosis, Biotinidase , Congenital Adrenal Hyperplasia (CAH), Spinal Muscular Atrophy (SMA) What is it in Brief?
Phenylketonuria is a congenital metabolic disease, children with this disease are fed with protein foods. It cannot digest enylalanine and increased phenylalanine in the body can cause mental disability and many serious health problems. Cystic fibrosis can cause serious damage to organs by affecting mucus and sweat glands, especially lungs and intestines, from birth. It can cause problems such as vision and hearing loss.
Spinal Muscular Atrophy (SMA), on the other hand, progresses with progressive weakness and loss of muscles, and may cause respiratory failure by affecting the respiratory muscles.
Why is Heel Blood Required?
Heel blood is routinely taken 2 times at 1 week intervals. The blood samples taken are sent to the centers of the Ministry of Health. In addition; Sometimes, it may be necessary to take more blood from your baby due to insufficient amount of blood taken, repeating the test with suspicious results or similar reasons. These tests are for screening purposes and further examination and clinical evaluation may be required for definitive diagnosis.
How to Learn Heel Blood Results?
If no problems are detected in the screening tests, the families are not returned. According to the results of the laboratory, the families of the babies who need to be repeated or who need to be transferred are reached. It is important for authorized healthcare professionals to provide you with your full and accurate contact information while taking the tests.
How Does the Post-Diagnostic Process Work?
In case of a disease with a positive result, the Ministry of Health has a specific algorithm. First of all, the family physician contacts the family and invites them to their unit and provides the necessary information. In the next process, you will be transferred to the appropriate centers for the related disease. Initiation is made. For example, if phenylketonuria is detected in a newborn baby, he is directed to the Pediatric Endocrinology Clinic and tests are performed to confirm the diagnosis. If a diagnosis is made, appropriate treatment is initiated.
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