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Newborn Screening Tests

10 October 2024

Although most babies are born healthy, some newborns may appear healthy but have treatable conditions. That is why it is essential for all newborns to undergo screening tests to detect these diseases shortly after delivery. The good news: rare disorders can be detected by a single blood test, and the proper therapy may be tailored early on, even two weeks after birth.

  • A blood sample is taken from the baby’s heel at least 36 hours after delivery and sent to a lab.
  • The test result is displayed a few days later on the Ministry of Health's website.
  • The service is provided free of charge.

In Israel, as in most other Western countries, a national newborn screening program has been in place for many years. Newborn screening tests identify relatively rare conditions that may cause severe damage to body organs, a cognitive developmental delay, or even death. These conditions have no apparent clinical symptoms in the baby’s early days, but they can be detected through a simple blood test.

Early diagnosis allows healthcare professionals to provide effective preventive or life-enhancing therapies to newborns with certain diseases, which can significantly improve their quality of life and life expectancy. It can also help prevent severe complications, including intellectual disability.

How are the screening tests performed

Screening tests are performed in the hospital at least 36 hours after birth and before discharge. Four blood drops are taken from the newborn’s heel and sent to the central laboratory of the Ministry of Health. The service is free of charge.

The diseases examined in the screening tests

The advisory committee to the Ministry of Health recommends which diseases should be tested for in newborn screening tests based on data existing in Israel and throughout the world.

The diseases examined in the newborn screening tests

A genetic disorder that affects the normal development of the brain. Early detection allows for the prevention of disease symptoms, particularly in terms of nutrition.

Thyroid hormone deficiency, which can cause significant damage to a rapidly developing baby. If your baby is suspected to have a hormone deficiency, they will be referred to an endocrinologist for further testing and treatment. Early treatment with thyroid hormone replacement can help your baby develop normally.

A relatively common genetic disorder in Israel. If left untreated, some patients may experience a dangerous loss of sodium, which can be life-threatening. Treatment with medications and regular monitoring of sodium levels can prevent cardiac arrest or death and enable affected infants to live a normal life.

A combined deficiency means a deficiency of two essential cell types of the immune system, necessary in the body for an effective immune response to infections. Early detection of babies with immune system disorders prevents severe and recurrent infections, unnecessary hospitalizations, and death. The treatment includes preventive treatment and full recovery through hematopoietic stem cell transplantation.

In the severe form of the disease, there is a neurological deterioration at the age of about one week. If left untreated, patients may die at an early age. Early detection and treatment allow for a normal development of the baby.

In its severe form, homocystinuria may cause intellectual disability, retinal detachment, osteoporosis, and blood clotting problems. Treatment is through diet and supplementation with vitamins.

During the first six months of life, the condition becomes evident with symptoms like growth-related issues (FTT), restlessness, liver dysfunction, and impaired kidney function. Without proper treatment, it can lead to complications such as the development of malignant liver tumors and kidney failure, potentially resulting in a fatal outcome. Treatment includes a special diet and medications.

In its severe form, Methylmalonic Acidaemia manifests as intellectual disability, movement disorders, and osteoporosis. The primary treatment approach involves nutrition, including a special diet, food supplements, and vitamins.

In the severe form of the disease, the symptoms are appetite loss, vomiting, hypotonia (decreased muscle tone), fatigue, and dehydration. A third of the patients will suffer from seizures. If left untreated, a severe intellectual disability develops, as well as acute movement disorders. The primary treatment is nutritional and includes a special diet, food supplements, and vitamins.

Typically, there are no immediate symptoms after birth, but several months later, neurological deterioration may become apparent. Manifestations of the disease include an enlarged head circumference and a typical appearance, as diagnosed in a brain neuroimaging study. The primary treatment is nutritional and includes a special diet, food supplements, and vitamins.

A malfunction in the system designed to utilize amino acids as an alternative energy source when the body experiences a drop in sugar levels. Children with MACD will usually get sick in the first two years of life as a continuation of normal childhood diseases, such as colds or ear infections. Possible complications include breathing problems, seizures, cardiac arrest, and sudden death during sleep (similar to sudden infant death syndrome). The main treatment for MACD is to prevent the child from going without food for 10–12 hours. During illness, children should eat foods high in carbohydrates and sugary drinks.

Similar to MCAD deficiency, VLCAD deficiency is a malfunction that manifests at an earlier age and is often characterized by chronic muscle weakness. Fasting can trigger an episode, potentially leading to heart problems and, in some cases, even sudden death. The primary treatment for VLCAD deficiency involves preventing periods of fasting lasting more than 10 hours.

An inability to metabolize galactose, a sugar found in milk, and convert it into the body's required sugar for energy production (glucose). This can result in the accumulation of galactose in the bloodstream, which can be harmful or even fatal. Symptoms typically manifest after the introduction of breast milk or lactose-containing milk formula, and they may include drowsiness, diarrhea, vomiting, increased fatigue, jaundice, hypoglycemia, an enlarged liver, protein in the urine, heightened susceptibility to bacterial infections, cataracts, and more. The primary treatment approach involves a lifelong avoidance of milk consumption, which contains galactose sugar, or lactose.

You should know

  • These diseases can be treated, and early diagnosis and treatment can help reduce or even prevent the serious consequences of the illness. In most cases, treatment can be commenced within two weeks of birth, thanks to newborn screening tests.
  • Some diseases can only be identified through blood tests once the baby starts eating. Therefore, these tests can only be performed after at least 36 hours have passed since birth, using a blood sample taken from the baby’s heel.
  • If you and your baby were discharged from the hospital early, it is important to contact Tipat Halav (family health center) in your area of residence to schedule the test as soon as possible.
  • Even in the case of a home birth, it is essential to have an experienced doctor or nurse perform the test. Home midwives who are appropriately registered are familiar with the procedure. If necessary, you can also reach out to Tipat Halav or the maternity ward of a hospital to arrange for the test.

How do you get the test results

The test results are available on the Ministry of Health website several days after birth.

  • Normal results are posted 14 days after the birth.
  • If the results are abnormal, you will be contacted by the lab using the contact information you provided at the hospital.

See your baby's test result

Log into the system to see the newborn screening test result, on the Ministry of Health website (Hebrew), and enter your details.

See the test result

Why were you summoned for a recheck

If the lab finds an abnormal test result, they will contact the parents and schedule a recheck for the baby. The recheck can be done at Tipat Halav in the parents' area of residence or at the maternity ward where the baby was born. It is important to provide the lab with an accurate address and phone number so that they can reach you if necessary.

Note: being called in for a recheck does not necessarily indicate that your baby is ill. Sometimes, the quality or quantity of the blood sample collected may not be sufficient to make a definitive diagnosis. In other cases, the test results may suggest a mild medical condition that can be diagnosed with a recheck.

What happens to the samples after the test is completed

The blood samples are stored for five years for quality control and to provide information about the baby's health, subject to the parents’ consent.

Where can the test be carried out, and to what age is it applicable

If your baby has not had the screening tests because of early discharge from the hospital, delivery abroad, or adoption, they should be done at Tipat Halav as soon as possible. The screening tests are performed on babies up to four months old. If no tests have been done, it is recommended that a pediatrician check the baby's development.

  • It is essential to perform the test as close to birth as possible. Some diseases can start to appear as early as two weeks after birth.
  • Bring your vaccination record, as well as the discharge letter, to the screening test at Tipat Halav.

If we decide against performing the test

Blood tests for newborns have been conducted throughout most of the world since 1963. It is logical to assume that you, the parents, also underwent these tests when you were infants. The test itself involves a swift needle prick on the baby's heel and the collection of four blood drops on absorbent paper, a procedure regarded as entirely safe. The test’s results can lead to early treatment and, consequently, prevent intellectual disability or irreversible neurological damage.

Nevertheless, in Israel, parents have the right to refuse to perform the test after receiving an explanation for its necessity from a qualified party (a doctor or nurse) and signing a refusal form.

You should know: the screening test is a lab test that examines blood components and does not include a molecular genetic profile, so there is no concern about performing a genetic profile on the newborn.

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