Newborn screening: why this test is vital
Why aren't they announcing the result? Because it's good news
Most parents don't even realize that their newborn has already undergone one of the most important medical tests in life - neonatal screening. It is carried out automatically, without unnecessary formalities, and thanks to it every year dozens of children get a chance at a full life. The procedure takes a few minutes, but is crucial for the child's future.
What are they testing for — and why these diseases?
Screening is not a general examination, but a targeted search rare but severe genetic and metabolic diseases, which:
have no symptoms in the first days of life
quickly lead to irreversible changes
are treatable or controllable if detected early
The state package in Ukraine includes five pathologies:
Phenylketonuria
Congenital hypothyroidism
Adrenogenital syndrome
Galactosemia
All these conditions require prompt medical intervention — diet, hormones, enzymes, or supportive therapy.
How is the procedure?
On 2–3 days after birth Blood is taken from the child's heel.
A few drops are applied to a special filter paper
Samples are centrally sent to laboratories
If the result is normal, parents are not informed.
If suspicion is detected, the family is informed and invited for further examination.
What to do if the test is positive?
A positive screening result — not a diagnosis, and the basis for additional testing. This is standard practice. The child is referred to a specialist (geneticist, endocrinologist, gastroenterologist), who prescribes confirmatory tests. Only then does treatment or observation begin.
Screening is not an “option,” but protection
The diseases that screening targets do not disappear without a trace. They accumulate and manifest themselves when it is too late to change anything. With phenylketonuria, for example, without a diet, a child may lose the ability to learn, speak, and think by the age of one. With cystic fibrosis, chronic respiratory infections occur up to 6 months. A timely diagnosis can avoid these consequences.
Why should you pay attention to extended packages?
The official program is just a basic level. Private laboratories offer advanced screening for dozens of additional diseases: spinal muscular atrophy, biotinase deficiency, fat metabolism disorders, etc. This is relevant if there are hereditary diseases in the family or if parents want to minimize the risks even before symptoms appear.
Don't give up and don't miss out.
Despite its availability and importance, sometimes the procedure is not performed:
in case of early discharge
during home birth without medical assistance
due to technical errors or lack of informing parents
In such cases parents have the right to initiate screening themselves in a clinic or laboratory during the first weeks after the baby is born.
Newborn screening is not about looking for disease, but a guarantee of a healthy start. And if you can see obstacles at the start, it is easier to remove them in time than to deal with the consequences years later.
Director of Medi Lab Plus LLC, a doctor of the highest category. Has over 45 years of practical experience in medicine and laboratory diagnostics. Founder and head of the laboratory since 2007. More details…