This procedure is known as the heel prick, but it is important to realize that it may be painful for you because of your passion for the newborn. Before you leave the hospital, the doctor or nurse pricks the baby's heel, which is still soft and warm, then drops of his blood are taken and placed on certain slides. The baby cries weakly, and you try to avoid this process, but it is necessary for your baby's health, as Dalili Medical reveals many diseases that may affect him throughout his life. Therefore, the mother should be aware of the importance of examining the newborn's heel.

**What is the newborn prick?**

 

The newborn heel examination, also known as the newborn prick or Guthrie examination, is a test performed on newborns. This examination is performed by pricking the newborn's heel, where drops of blood are collected on pre-printed cards known as Guthrie cards. This test is named after Robert Guthrie, an American bacteriologist and physician who invented the test in 1962.

**What is the heel test?**

 

Screening tests using a small amount of blood taken from the heel of newborns make it possible to diagnose some important and treatable metabolic and hormonal diseases before symptoms appear. These include diseases that can lead to developmental problems, mental retardation, and even death if not diagnosed early. Treatment that begins after symptoms appear cannot correct damage that has already occurred. Therefore, the heel test is of utmost importance. If these diseases are detected during the neonatal period, appropriate diet or drug therapy can be started, which contributes to the healthy growth of children. These tests are routinely performed on every newborn.

**When to perform the heel prick test**

 

The heel prick test should be performed within the first 44 hours after birth. There are some diseases that can be treated better if detected early, but delaying the examination may lead to difficulty in treating the newborn, especially in the case of cystic fibrosis, which must be detected within eight weeks of its age.

The mother has the opportunity to detect some genetic diseases until the newborn reaches 12 months. Therefore, it is preferable for the mother not to leave the hospital before this examination is performed, as it is not available in private laboratories.

**Date of the newborn's heel examination results**

 

The examination results appear eight weeks after the birth of the newborn. In the event of any diseases, the results are revealed before this date. In general, this examination is used to detect genetic diseases in newborns.

What are screening tests?

 

Screening tests help diagnose diseases even in the absence of symptoms. These diseases are common in the community, and can be detected through simple tests, allowing for positive results through early diagnosis and treatment. The tests used in the examination indicate the possibility of a health problem, but do not provide a final diagnosis. After that, accurate diagnostic tests related to the suspected disease must be performed.

Because the goal is early diagnosis and treatment, screening tests are commonly used in the newborn period. The diseases that can be detected by the triple test or amniocentesis in the prenatal period are different from those that are screened for in newborns.

**How ​​is the test performed?**

 

A midwife or community health educator will prick your baby’s heel with a sterile needle to collect drops of blood on a special card. During this, they will hold your baby’s ankle to ensure that the blood flows properly to the card. This procedure may take a few minutes, and your baby may feel uncomfortable or cry. You can help soothe your baby by making sure he is warm and comfortable, by cuddling or breastfeeding him.

**What to do if a problem is detected by the heel scan?**

 

If the test result is positive for any of the diseases screened, additional tests will be done on your baby’s blood or urine. These tests are more detailed, and if any diseases are diagnosed, your baby will be referred to a pediatric endocrinologist or metabolic specialist, and treatment will be started before any health problems arise. Screening tests are carefully planned to avoid overlooking any metabolic problems. However, false positive results can sometimes occur. If the test result is positive, additional detailed tests should be performed, as tests that give faster results are often normal. Therefore, families are advised to wait for the final results.

**Types of newborn screening**

 

Newborn screening includes a variety of necessary tests, such as blood tests, heart tests, and sensory tests, among others. We will review them in detail below.

**Eye examination:** The doctor uses a special flashlight to direct it towards the baby's eyes, which helps assess the baby's response to light. The lens of the eye is also examined to determine eye movement and the presence of cataracts, as it is noted that 2 to 3 children out of every 10,000 may be born with cataracts, which requires early medical intervention.

**Heart examination:** The doctor listens to the baby's heartbeat using a stethoscope, to determine whether the beats are normal or if there are any other observations. He also checks for heart murmur, which is a common condition among children, where an additional sound can be heard as a result of disturbed blood flow. This condition is usually not worrisome, but about 8 out of every 1,000 children may have heart conditions that require prompt diagnosis and treatment.

**Joint examination**: The doctor examines the child's hip joints to assess how well they move. Some children may be born with a condition known as developmental dysplasia of the hip, which causes difficulty moving the hip joint. This condition is estimated to affect about 2 out of every 1,000 children.

**Testicle examination for males**: This examination involves checking that the testicles are in the correct place. WhereThe testicles are inside the baby's body during pregnancy, then descend into the scrotum immediately after birth or after several weeks or months. The doctor examines the testicles to ensure that they have descended into the scrotum. In some cases, partial descent or complete failure of the testicles may occur, which may lead to future problems such as infertility. These cases are estimated at about 2-6 children out of every 1,000 children.

**Diseases that can be detected through neonatal puncture**

 

1. **Cystic fibrosis**: It is a genetic disease that greatly affects the lungs and digestive system, as it causes damage to the cells responsible for producing mucus and sweat, leading to an increase in the viscosity of these secretions. This viscosity impedes the flow of fluids in the lungs and pancreas, posing a threat to the baby's life.

2. **Sickle cell disease**: It is a genetic disease that affects the blood.

3. **Homocystinuria**: It is a genetic metabolic disorder.

4. **Phenylketonuria**: This condition affects the body's metabolism. It is a genetic disease that occurs as a result of high levels of phenylketonuria in the urine due to a defect in the gene responsible for producing the enzyme necessary to break down phenylalanine. This disease is treated by the mother following a special diet with her child under medical supervision, as failure to treat it may lead to severe mental retardation.

5. **Thyroid hormone deficiency**.

6. **MCAD enzyme deficiency**: This enzyme affects the body's ability to convert fat into energy.

7. **Maple Tree Urine Disease**: It is a genetic disorder that makes the body unable to process some amino acids.

8. **Isovaleric Acidemia**: It is also a genetic disorder related to the process of processing amino acids.

. **Primary Congenital Hypothyroidism** Hypothyroidism is known as the inability of the gland to secrete sufficient amounts of thyroid hormone, which leads to slow learning and growth if not treated within a maximum of one month.

.** Phenylketonuria** is a disease that occurs as a result of the accumulation of the amino acid phenylketonuria in the body due to the body’s inability to break it down. If this condition is not treated, it can lead to mental retardation and brain problems in children.

. **Maple syrup urine disease** This disease is characterized by a unique smell in children’s urine, and is caused by the body’s inability to break down certain types of amino acids. If this disease is not treated, it can lead to epilepsy and delayed mental development.

** Cystic fibrosis** Cystic fibrosis is a condition that negatively affects the lungs, intestines, and liver, as a result of the increased thickness of the mucus secreted by the mucous glands, which affects the mentioned organs. Unfortunately, there is no definitive cure for this disease, but early detection can help reduce symptoms, giving the child the opportunity to live a longer and healthier life.

.** Sickle cell anemia** Anemia is a deficiency in the number of red blood cells, which can lead to symptoms such as fatigue, damage to some organs, and in some cases, death.

** Biotinidase deficiency** Biotinidase plays an important role in the analysis of biotin, a type of vitamin B. This enzyme deficiency is a hereditary disease that leads to the accumulation of biotin in the body, causing health problems. Therefore, it is preferable to conduct the necessary tests to detect this deficiency early.

**Interpretation of the results of the heel test for newborns**

 

Usually, the results of this test are negative, which means that the child does not suffer from any thyroid dysfunction. However, in rare cases, the result may be positive, indicating a thyroid hormone disorder. In this case, the doctor performs additional diagnostic tests. If the doctor requests a diagnostic test to assess the health condition of the newborn, and the results are normal, the child will not need further tests. However, if the results are abnormal, the child will have to move to the second stage of medical tests to accurately determine the disease.

**Conditions for conducting a heel examination for newborns**

 

There are a set of conditions that must be taken into account when wishing to conduct a heel examination for a newborn, including:

- The sample must be taken during the first week of the child's life.

- The blood sample is drawn using a very thin tube, and this must be done by a specialist to avoid breaking or dissolving blood cells, which may lead to inaccurate analysis results.

**Risks of delaying the newborn's heel examination**

 

The child is exposed to the risk of thyroid hormone deficiency, as congenital hypothyroidism is one of the most common causes of mental retardation in children.

Congenital hypothyroidism results from a fetal defect in the development of the thyroid gland (dysgenesis) or a defect in the production of thyroid hormone (hormonal defect), which means that there are two main reasons behind this deficiency.

Most cases of thyroid dysgenesis are sporadic, while hormonal formation disorders are inherited in an autosomal recessive pattern, and can be detected by conducting a newborn's heel examination.

**Heel Check Tips**

There are some guidelines that parents should follow when performing a heel check for newborns, including:

- Every mother and father must commit to performing this test immediately after the birth of the child, in order to protect their child from any health complications that may appear in the future as a result of an undetected disorder in the thyroid gland.

- If the test results show that the child does not suffer from any hypothyroidism or sickle cell anemia or other genetic diseases, but a family member has a history of this disorder, the test should be repeated for the child after a short period to ensure that he is completely safe.