New Newborn Screenings

Since January 2023, the so-called “heel” test has been introduced, when blood is taken from the heel of a newborn child, which includes a check for 36 genetic diseases. This is done on the second or third day after childbirth, while the mother and child are still in the maternity hospital or perinatal center.

An extended list of genetic diseases included in testing includes hereditary metabolic diseases, primary immunodeficiencies, spinal muscular atrophy and much more.

Prior to this, only 5 diseases were included in the neonatal screening program:
• Phenylketonuria is a hereditary metabolic disorder of amino acids (phenylalanine).
• Adrenogenital syndrome, or congenital dysfunction of the adrenal cortex – hereditary fermentopathy. The development of the disease is due to a deficiency of steroid hormones (cortisol and aldosterone) and an increase in the synthesis of the sex hormone testosterone.
• Congenital hypothyroidism – the inability of the thyroid gland to develop normally or produce the necessary amount of hormones.
• Galactosemia – a violation of carbohydrate metabolism, in which the body accumulates an excess of galactose and its metabolites. These substances have a toxic effect and damage various organs and tissues.
• Cystic fibrosis is a hereditary disease in which the glands of external secretion are affected, and the secret secreted by them becomes excessively thick and viscous.