With newborn screening tests, it is possible to detect life-threatening or long-term health-threatening disorders that are common in the society before the symptoms of the disease begin. With early diagnosis and treatment, it is possible to prevent mental retardation, brain damage and irreversible damage that may develop due to these diseases. So, which diseases can be checked with newborn screening tests? Pediatric Diseases and Newborn Specialist Prof. Dr. Filiz BAKAR gave detailed information on this subject.

What is Heel Blood?

It is a small amount of blood taken from the heel of newborn babies after birth. Heel blood screening, popularly called heel blood test, is very important for early diagnosis of genetic or metabolic diseases that may be present in your baby.

Why is Heel Blood Taken?

With the Newborn Screening Program carried out under the Ministry of Health in our country, as well as all over the world, many metabolic and endocrine diseases are diagnosed early, before damage begins, with hearing screening, vision screening, hip dislocation screening and a drop of blood taken from the heel, and treatment is started without delay.
Screening tests are generally used for diseases that are common in that society and prevent death or permanent disability by starting treatment before symptoms appear. For example, if a baby whose thyroid gland is not functioning is not diagnosed early and treatment is not started, the baby will have permanent intelligence and motor retardation. However, if the diagnosis is made with a drop of heel blood before the clinical symptoms begin and treatment is started, that baby will continue its life in a healthy way.

When Should Heel Blood Screening Be Performed?

Heel blood screening is performed on all babies within the first 24-48 hours after birth, and it is recommended to take another sample within the first week to avoid missing a case. Especially in our country, where consanguineous marriages are more common, congenital hereditary diseases that are screened with the heel blood test are more common.

What are the Diseases Detected in the Heel Blood Test?

In our country, the following metabolic and endocrine diseases are screened within the scope of the Newborn Screening Program.

• Phenylketonuria
• Congenital hypothyroidism
• Cystic fibrosis
• Biotidinase deficiency
• Spinal muscular atrophy
• Congenital adrenal hyperplasia  

All of these diseases are very serious diseases and early diagnosis and treatment are very important.

Diseases Screened with Heel Blood

•  Phenylketonuria 

It is a hereditary metabolic disease caused by the deficiency of the phenylalanine hydroxylase enzyme. Phenylketonuria, for which early diagnosis of this disease is extremely important, is one of the most common causes of preventable mental retardation. If treatment is not started early, severe mental retardation occurs because some protein building blocks and substances cannot be eliminated from the body and accumulate in the blood. When the disease is detected in the screening test, the baby is started on a special formula to keep the phenylalanine level in the blood at normal levels, thus preventing brain damage.

•  Congenital Hypothyroidism 

Congenital hypothyroidism is an endocrinological disease that occurs as a result of the inability to produce enough thyroid hormone to meet the body's needs due to the absence or underactivity of the thyroid gland. Thyroid hormone is an extremely important hormone for growth and development. Therefore, early diagnosis of congenital hypothyroidism is very important for the baby. If not treated early, it causes physical development disorders and mental retardation. In babies whose diagnosis of hypothyroidism is confirmed, physical and mental retardation is prevented by starting thyroid hormone replacement therapy with medication.

•  Biotinidase Deficiency 

Biotinidase enzyme plays a leading role in the production of vitamin biotin, one of the B group vitamins that has extremely important functions for our body. Biotinidase deficiency is an inherited metabolic disease in which there is a defect in the processing of biotin. If left untreated, due to biotin deficiency; First of all, skin diseases and then disorders in brain development may occur. Therefore, early diagnosis is extremely important. Diagnosed babies can be effectively treated with vitamin support in the early stages and damage can be prevented.

•  Cystic Fibrosis 

It is a hereditary disease that affects the lungs and digestive system. It occurs as a result of the combination of genes from a healthy, surrogate mother and father. Symptoms of Cystic Fibrosis in babies can appear at different ages. These symptoms; It manifests itself as frequent lung infections, excessive smelly and oily stools, and inability to gain weight. If left untreated, this disease causes growth and development retardation. Early diagnosis is extremely important in the treatment of this disease. Respiratory physiotherapy, special nutrition programs and enzyme supplements are effective treatment methods.

•  Congenital Adrenal Hyperplasia 

It is a hereditary disease in which more than 90% of patients have a cortisol production defect due to 21-Hydroxylase enzyme deficiency. If a diagnosis is not made and early treatment is not started, these babies may die due to salt loss and low blood sugar. Intellectual development may be affected in the long term and short stature may develop. Gender development anomalies, especially evident in female babies, are also added to the table. It is seen at higher rates in our country where consanguineous marriages are common. Starting treatment at an early stage is lifesaving.

•  Spinal Muscular Athropy 

It is a hereditary disease affecting the muscle and nervous system. The disease is characterized by progressive muscle weakness and muscle wasting. The most common form of the disease is SMA Type I, and it is the most severe and fatal form, resulting in severe respiratory failure and death of the patient before the age of two. If the disease is diagnosed early, the disease can be controlled with new treatment options and the quality of life of patients increases.

Frequently Asked Questions About Heel Blood