Universal newborn screening: why is it important?

For a year now, Lithuania has been conducting universal newborn screening for 12 congenital rare diseases. Screening is free of charge and the tests for these diseases are reimbursed by the Compulsory Health Insurance Fund (CHIF). They help to reduce the risk of genetic diseases to babies’ health and even lives.

Earlier, universal newborn screening was carried out in Lithuania for hearing and vision impairments, critical heart defects and 4 inherited metabolic diseases: phenylketonuria, congenital hypothyroidism, congenital adrenal hyperplasia and galactosaemia.

From 2023, all newborns in Lithuania are screened for 8 more congenital rare diseases. These are 6 metabolic diseases: medium-chain fatty acid acyl-CoA dehydrogenase deficiency, methylmalonic acidemia, glutaric acidemia type I, long-chain fatty acid 3-hydroxy-acyl-CoA dehydrogenase deficiency, carnitine carrier deficiency, and maple syrup urine disease. Newborns are also screened for cystic fibrosis and spinal muscular atrophy.

Based on the data of health insurance funds, last year, the CHIF spent over EUR 1 million on universal newborn screening and provided almost 22 000 services.

“Early diagnosis of congenital diseases can prevent the progression of a disease and serious health complications it can cause in the future, if the right tests are carried out in time for the newborn. We therefore urge all parents to take a responsible approach to universal newborn screening and to take advantage of this free opportunity to have their babies tested. This screening is important not only for each individual family, but for all of us, contributing to the efficiency of the healthcare system and to the long-term improvement of public health,” says Dalia Miniauskienė, head of Šiauliai Territorial Health Insurance Funds.

Universal newborn screening is carried out for all newborns, born in Lithuania, in the maternity hospitals, in the first days of the baby’s life, so parents don’t need to worry about the screening themselves. Although screening is not compulsory, parents or guardians of a newborn, who wish to opt out of screening, must sign a withdrawal form.

According to doctors, it is very important to detect these rare diseases before the first signs appear, because if left untreated, they can disrupt the baby’s development and lead to psychomotor retardation, brain damage or even death. Early treatment of such diseases protects the baby from irreversible health problems and allows him or her to live a full life.

Newborn screening tests are carried out by selection. No later than the fifth day after a child’s birth, a single blood sample is taken from the newborn’s heel. If changes in the levels of disease biomarkers are detected in the newborn’s blood, suggesting the presence of one or another disorder, neonatal screening shall continue and suspected diagnosis shall be confirmed or negated by further laboratory, clinical and molecular genetic tests.

A more detailed examination is carried out when you go to the doctor for a consultation – a newborn is examined, a blood test is repeated or other additional tests are appointed. If the tests confirm the disease, then treatment is started and further investigations may be carried out to determine the cause of the disease.

(Freepik photo)

Šiauliai THIF information

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