Neonatal screening enables the early detection of serious diseases such as cystic fibrosis, phenylketonuria, or congenital metabolic disorders, before they develop symptoms. They are free for parents, and thanks to them it is possible to detect as many as 29 diseases.

Contents:

  1. Newborn screening: why is it done?
  2. Newborn screening: what is it about?
  3. Newborn screening: what diseases do they diagnose?
  4. Newborn screening: can a parent refuse?
  5. Newborn screening: hearing test
  6. Newborn screening: SMA test
  7. Neonatal screening: Neonatal genetic testing

Newborn screeningis not a Polish invention: it was initiated in the USA in 1961. test for phenylketonuria. In Poland, the first pilot screening tests forphenylketonuriastarted in 1965 at the Institute of Mother and Child. The number of studies was gradually increasing. In the 1990s, newborns were examined for several diseases, in 2015 their number increased to 23.

Currently, all Polish newborns are covered by the screening program, which covers 29 diseases and congenital defects and is financed by the Ministry of He alth (for comparison, in the European Union countries, newborns are tested for 30 diseases, in the USA - 34 diseases, and in some states - 54 diseases).

An additional newborn screening test is - also free - hearing screening, carried out as part of the universal newborn hearing screening program thanks to theWielka Orkiestra Świątecznej Pomocy Foundation .

Parents can also take advantage of paid screening tests for newborns, such as screening for SMA (spinal muscular atrophy), and genetic screening for newborns, for which they also have to pay for out of their own pocket.

In Poland, nearly 400 children are born each year suffering from diseases and congenital defects, the detection of which has been covered by the current screening program

Newborn screening: why is it done?

Newborn screening testsbelong to the so-called population tests covering all newborn babies. Their goal isdetection of congenital diseases that do not give symptoms in the first days, weeks or even in the first years of life (so it is difficult to detect them), but if they are left untreated, they may cause irreversible changes, including intellectual development disorders (this is the case, for example, in in the case of phenylketonuria or congenital hypothyroidism) or physical.

Screening testsalso detectcongenital defects of metabolism(such as maple syrup disease or fatty acid oxidation disorders), which may come on suddenly and endanger a child's life. Early suspicion of these diseases allows for additional biochemical and genetic tests, treatment and constant monitoring of the child's condition, which often enables him to live a normal life.

Newborn screening: what is it about?

Newborns screeningis conducted in accordance with the procedures developed by the Institute of Mother and Child. They consist of collecting blood samples from the heel from a newborn who has reached 48 hours of age for analysis on a special tissue paper (both after hospital delivery - also in private hospitals, and after home delivery).

These samples are then sent to one of the seven laboratories in Poland, equipped with specialized equipment and software, and carefully analyzed for the occurrence of one of 29 diseases or birth defects. If the test result is normal, the diagnosis is complete - the laboratory no longer sends the results to the parents.

When the result is within the limit range, the analysis of the sample must be repeated - the laboratory then sends another tissue paper to the child's mother, while the nurse takes the blood for analysis from the local clinic (the sample must then be sent back using the procedures received with the tissue paper) .

After the analysis is done, the laboratory informs the parents that the result is correct or calls for another test, informing them where and when it should be performed. However, when the result of the analysis is above the norm (which may indicate a high probability of disease), the parents receive a letter asking them to immediately report to a specialist clinic (mentioned on the summons) - they can also be informed about it by phone, if they have previously provided a contact number.

Such a call indicates a high risk of disease - but it does not constitute a diagnosis. This can only be made by a specialist after a series of specialist tests have been carried out.

If the mother leaves the hospital before the end of the second day after giving birth - that is, before the blood sample is drawn - she should receive a kit fortests (tissue paper with the sample code and laboratory address attached) together with the Children's He alth Book. On the 3-4th day of the baby's life, during the first visit of the nurse from the local clinic, blood should be drawn on a tissue paper, and then the sample should be dried and sent to the laboratory.

Blood for screening tests must not be collected before the first 48 hours of life, because then their results may be disturbed by, for example, increased levels of hormones after delivery or enzymes from the mother's body, which for some time after delivery are still circulating in the child's body

Newborn screening: what diseases do they diagnose?

The newborn screening program , which is currently in force in Poland, enables early detection of 29 diseases, including:

  • Congenital hypothyroidism. In our population, it occurs in 1 in 3,500 cases. Untreated, it leads to intellectual disability as well as somatic symptoms, including stunted growth, abnormal body proportions, cold intolerance, and heart and kidney problems. It is often accompanied by other birth defects as well.
  • Congenital adrenal hyperplasia. The disease is associated with a disturbance in the production of hormones. Girls with this condition are often considered boys after childbirth (due to the appearance of their sexual organs), while in boys a constant excess of androgens causes rapid growth and accelerated sexual maturation.
  • Cystic fibrosis. A disease that causes symptoms mainly of the respiratory system (such as chronic bronchial obstruction, respiratory infections) and the digestive system (including digestive disorders).
  • Phenylketonuria. Congenital defect of metabolism, which occurs in 1 in 8 thousand people in Poland. people. In its course, the transformation of the phenylalanine amino acid is inhibited, which causes damage to the central nervous system and severe intellectual disability.
  • Biotinidase deficiency.
  • Amino acid disorders - such as maple syrup disease, classic homocystinuria, type I and type II citrullineemia, type I and type II tyrosinemia.
  • Organic acidurias - rare congenital diseases whose clinical symptoms resemble intoxication, worsen rapidly and can lead to permanent damage to internal organs or even death.
  • Disturbances in fatty acid oxidation and ketogenesis - can lead to coma, during which the liver is damaged.

It is worth remembering that even a positive result of screening tests does not exclude the disease - errors can occur, including the so-called biological errors when testedthe marker is normal, yet the disease will develop.

Newborn screening: can a parent refuse?

In Polandnewborn screening , just like vaccinations, is mandatory. Blood is drawn for the tests while still in the hospital, and if the child is born at home, the test sample can be taken by the nurse or the parents.

However, it happens that the parents do not agree tonewborn screening , explaining it by religion or other philosophical reasons - such a situation occurs extremely rarely, because most parents are aware the fact that early screening tests can save the he alth or even life of a child. Refusing consent has no consequences for the parents.

In such a case, however, the person responsible for carrying out such tests makes an attempt to perform the tests after the child is discharged from the hospital - the parents receive a letter with blotting paper on which the blood sample should be applied and sent to the sender. The letter also includes a declaration of refusal of consent to screening tests, which - in the event of disagreement - should be signed and returned to the sender.

Newborn screening: hearing test

As part of screening tests, hearing screening tests for newborns are also carried out. This test is organized as part of theProgram of Universal Newborn Hearing Screening Testand is carried out thanks to the Great Orchestra of Christmas Charity Foundation.

The test checks whether the newborn has hearing impairment, and also analyzes risk factors predisposing to such damage. Two tests are performed during it. The first is to register the responses that arise in the baby's inner ear after the application of soft sounds. During the second, auditory brainstem evoked potentials that are created in the auditory pathways after the application of sounds are recorded. Both tests last a few minutes, are safe and painless.

A child whose result is correct receives a blue certificate, pasted into theChild He alth Book . A baby whose result is abnormal or the test has detected risk factors for hearing loss receives a yellow certificate - then it is necessary to perform additional checkups with an audiologist or ENT specialist. If the result of this test is correct, the yellow certificate will be replaced with the blue one.

Newborn screening: SMA test

SMA(spinal muscular atrophy) is a severe genetic disease in which the neurons in the spinal cord diespinal cord, responsible for the work of the muscles. As a result, there is a progressive atrophy of skeletal muscles and paralysis: partial or complete.

The disease can be inherited (it is estimated that 1 in 35 people have the SMA gene). In Poland, up to 800 people suffer from it, and every year 50 new diagnoses of SMA are made.

Her symptoms in over 90 percent. appear in infancy and early childhood. Giving a young patient a substance called nusinersen can prevent the onset of SMA symptoms - but only if it is administered before the disease is present.

Whether or not a child is at risk of SMA can be determined by screening for SMA. Currently, such tests can be performed for a fee (the cost is several hundred zlotys), however, work is underway to ensure that screening tests for SMA are included in the Polish newborn screening program, initially in the form of a pilot for the Mazowieckie Voivodeship, and then to the program of standard tests for all newborns children.

Neonatal screening: Neonatal genetic testing

There are also geneticnewborn screening tests , which - for a fee and without a referral - can be performed by each parent for their child. Depending on the type, DNA tests enable the detection of even several thousand genetic changes, and with their help it is possible to assess the risk of up to 87 rare diseases in a child, including congenital disorders of the immune system and metabolic diseases.

The sample for testing is a swab taken from the inside of the child's cheek with a special stick, which - after collection - should be sent to the laboratory.

Category:

Child's he alth