Laboratory mass (neonatal) screening
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Laboratory staff:
- Laboratory assistant doctor Kruchinkina Nadezhda Ivanovna
- Paramedic-laboratory assistant Zakharova Tatiana
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According to the order of the Ministry of Health of the Russian Federation
from April 21, 2022 N 274n "On approval of the procedure for providing medical care to patients with congenital and (or) hereditary diseases" neonatal screening for galactosemia, cystic fibrosis, adreno-genital syndrome, phenylketonuria and congenital hypothyroidism is carried out; advanced neonatal screening for congenital and (or) hereditary diseases is carried out for the following diseases: insufficiency of other specified vitamins of the group B - E53.8 ICD-10 (biotinidase deficiency (biotin-dependent carboxylase deficiency; holocarboxylase synthetase deficiency (biotin deficiency); other types of hyperphenylalaninemia - E70.1 ICD-10 (deficiency of synthesis of biopterin (tetrahydrobiopterin), deficiency of reactivation of biopterin (tetrahydrobiopterin); tyrosine metabolism disorders - E70.2 ICD-10 (tyrosinemia); disease with the smell of maple syrup urine (maple syrup disease) - E71.0 ICD-10; other types of branched chain amino acid metabolism disorders - E71.1 ICD-10 (propionic acidemia); methylmalonic methylmalonyl KoA mutase (methylmalonic acidemia); methylmalonic acidemia (cobalamin A deficiency); methylmalonic acidemia (cobalamin B deficiency); methylmalonic acidemia (methylmalonyl KoA-epimerase deficiency); methylmalonic acidemia (cobalamin D deficiency); methylmalonic acidemia (cobalamin C deficiency); isovalerian acidemia (isovalerian acidemia); 3-hydroxy-3-methylglutaric insufficiency; beta-ketothiolase insufficiency; fatty acid metabolism disorders - < a href="https://normativ.kontur.ru/document?moduleId=1& ;documentId=71591#l495" target="_blank">E71.3 ICD-10 (primary carnitine deficiency; medium-chain acyl-KoA dehydrogenase deficiency; long-chain acetyl-KoA dehydrogenase deficiency (very long chain acyl-KoA dehydrogenase deficiency (VLCAD); very long chain acetyl-KoA dehydrogenase deficiency (very long chain acyl-KoA dehydrogenase deficiency (VLCAD); mitochondrial trifunctional protein deficiency; carnitine palmitoyltransferase deficiency, type I; carnitine deficiency palmitoyltransferase, type II; insufficiency carnitine/acylcarnitine translocases; metabolic disorders of sulfur-containing amino acids - E72.1 ICD-10 (homocystinuria); urea cycle metabolic disorders - E72.2 ICD-10 (citrullinemia, type I; arginase deficiency); metabolic disorders of lysine and hydroxylysine - E72.3 ICD-10 (glutaric acidemia, type I; glutaric acidemia, type II (riboflavin-sensitive form); infantile spinal muscular atrophy, type I (Werding-Hoffman) - G12.0 ICD-10; other hereditary spinal muscular atrophy - G12.1 ICD-10; primary immunodeficiency - D80 - D84 ICD-10.
For neonatal screening for congenital and (or) hereditary diseases and extended neonatal screening for congenital and (or) hereditary diseases, blood samples are taken from the heel of a newborn 3 hours after feeding, at the age of 24 - 48 hours of life in a full-term and on the 7th day (144 - 168 hours) of life in a premature newborn.
Test forms with 5 blood spots are used for laboratory examination of newborn blood samples as part of neonatal screening. Test forms with 3 blood spots are used for laboratory examination of newborn blood samples in the framework of expanded neonatal screening.
Test forms are delivered from medical organizations that have taken blood samples to the medical and genetic consultation of the State Medical Institution of the Republic of Mordovia "Mordovia Republican Central Clinical Hospital" daily.
Test forms with 5 blood spots remain in the neonatal screening laboratory of the MGK GBUZ of the Republic of Mordovia "MRCCB" for neonatal screening. Test forms with 3 blood spots within 24 hours after receiving the test forms are sent to the Federal State Budgetary Institution National Medical Research Center of Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov of the Ministry of Health of the Russian Federation for extended neonatal screening.
Upon receipt of the results of screening studies, a group of children "conditionally healthy" for all the studied diseases and a high-risk group of congenital and hereditary diseases are formed. Children from the group "conditionally healthy" do not require additional research.
Information about children of the high-risk group identified as a result of RNS is transmitted from the NMIC of the V.I. Kulakov AGP to the Ministry of Health of the Russian Federation within 24 hours to the MGK of the State Medical Institution of the Republic of Mordovia.
Informing the legal representative of the child about the presence of a high risk of congenital and (or) hereditary diseases in the child is carried out by phone, indicated in the referral form to the RNS, informing the medical organization providing primary health care to the child is carried out by phone and via secure communication channels within 24 hours from the date of receipt of the information from the NMIC «AGP named after V.I. Kulakov» Ministry of Health of Russia.
Within 24 hours after receiving information from the NMIC "V.I. Kulakov AGP" of the Ministry of Health of the Russian Federation, a child from a high-risk group is invited to the MGK GBUZ of the Republic of Mordovia "MRCCB" to take blood samples and other biological materials for repeated screening (retest) in the MGK GBUZ The Republic of Mordovia «MRCCB » or transportation of biomaterial to the N.P. Bochkov Moscow State Medical University «, for confirmatory biochemical and (or) molecular genetic and (or) molecular cytogenetic diagnostics.
For diseases characterized by early manifestation and life-threatening consequences, retest is carried out simultaneously with confirmatory tests at the N.P. Bochkov Moscow State Medical Center. The newborn is prescribed therapy in accordance with clinical recommendations until the results of the retest and confirmatory diagnosis are received.
If there are medical indications, the geneticist of the MGK GBUZ of the Republic of Mordovia «MRTSKB» immediately directs a newborn from a high-risk group to be hospitalized in the GBUZ of the Republic of Mordovia «Children's Republican Clinical Hospital » (hereinafter referred to as the GBUZ of the Republic of Mordovia «DRKB »), prescribes specialized therapeutic nutrition products until the results of the retest and confirmatory diagnosis are obtained.
After receiving the results of a repeated screening study and confirmatory diagnosis, a group of children with identified congenital and (or) hereditary diseases is formed, information about which is transmitted to the MGK GBUZ of the Republic of Mordovia "MRCCB" within 24 hours after receiving the results of the study to a medical organization at the place of residence or location of the child with appropriate recommendations.
