1ST CITY CLINICAL HOSPITAL

03/28/2024

General information

The development of a screening program began in the sixties of the last century. The first disease that became a candidate for mass diagnosis was phenylketonuria (PKU), since its early detection and nutritional correction can prevent the development of severe neurological disorders. Based on the first results of screening for PKU, WHO published the book “Principles and Practice of Disease Screening,” which includes so-called criteria that are still relevant today. In accordance with these criteria, mass screening is carried out for diseases that:

• Have early and severe symptoms;
• There are well-developed, effective treatments for them;
• Their frequency in the population is quite high (at least 1 in 10,000);
• The method for identifying them is technically and economically feasible;

The main thing: only with the help of screening is it possible to prevent the irreversible consequences of the disease for the child’s health.

In Belarus, neonatal biochemical screening has been organized since 1978 (the Republic of Belarus became the first republic of the USSR to introduce mass screening!) and is currently carried out by the clinical diagnostic genetic laboratory of the Republican Scientific and Practical Center “Mother and Child”. Since 1991, our country has been screening for congenital hypothyroidism, and since 2018 – for cystic fibrosis. In December 2023, tests for adrenogenital syndrome and galactosemia were also added to the program. Each year, these screening programs help keep dozens of children alive and healthy.

Why have your child tested?

The goal of expanded neonatal screening for congenital and (or) hereditary diseases is to identify rare but serious diseases before their symptoms develop, and to begin treatment on time.

The diseases that are being tested for are very rare, and the risk of your child having them is extremely low. However, in accordance with the genetic laws of inheritance of these diseases, the absence of cases of the disease in your relatives does not exclude a risk for the child.

Screening for hereditary diseases is often the only way to quickly and timely identify dangerous diseases. The analysis allows you to preserve the most valuable thing - the health of the child!

When and how will your child be tested?

Blood from your baby's finger should be taken for 2 special test forms at the age of 24 - 48 hours of life in the maternity hospital, and for premature babies the test should be taken on the 7th day of life.

If the birth occurs outside the maternity hospital (in a regular hospital, at home), you must immediately contact the children's clinic at your place of residence and undergo screening. The test form with blood is sent as quickly as possible to the neonatal screening laboratory, where the samples are immediately examined using special, very sensitive analytical methods.

What diseases are being tested for?

These are phenylketonuria, congenital hypothyroidism, adrenogenital syndrome, cystic fibrosis, galactosemia.

How will you find out about the results of the examination?

The absence of a call for additional examination will mean normal test results for all diseases examined. If any disease is suspected, parents and the baby are invited to the medical genetic center for a repeat screening study. The main goal of screening is not just to detect pathology, but to begin treatment as quickly as possible so that the child can grow and develop normally. In this case, it should be remembered that an initial positive result does not always mean the presence of the disease. However, you should not delay undergoing additional examination.

What should you pay attention to?

Neonatal screening is carried out at certain times in order to promptly identify the disease and begin treatment. Therefore, do not delay screening until later. If, for various reasons, you were unable to undergo examination at the age of 24 - 48 hours of the child’s life, undergo it as soon as possible.

When undergoing the examination, please provide the addresses and contact phone number where you and your child can be found in the first time after birth in case of a positive result. If you decide to leave temporarily or move to a permanent place of residence, be sure to provide your new address to the clinic.