Newborn screening: a comprehensive approach to the diagnosis of hereditary and congenital diseases

Abstract

Annotation. Neonatal screening is performed for the early identification of genetically determined rare diseases that are subject to treatment and require immediate intervention. The aim of the work is data exchange to acquaint clinicians with the need for mandatory newborn screening, problems and challenges of early diagnosis of hereditary and congenital diseases. A literature review of PubMed, MEDLINE, Web of Science, Scopus databases was conducted; materials of review articles describing clinical cases related to newborn screening were studied. Review and analytical and bibliosemantic research methods were used. The main screening tests used to identify infants with critical congenital heart diseases are prenatal ultrasound, postnatal clinical examination, and pulse oximetry. Newborn genetic screening is aimed at identifying genetic and metabolic disorders, is carried out at the state level and integrates screening policy, follow-up, diagnosis, treatment of revealed disease, and tracking the results. The false-positive results are higher for sick infants in the intensive care unit due to their metabolic instability and functional immature enzymes. DNA tests of 2-tiered significantly improve both the specificity and sensitivity of testing, and reduce the number of false-positive results. An effective approach to screening for hearing loss is two-tiered testing, in which audiometry is followed with DNA testing for GJB2 mutations in the connexin-26 gene. Traditional ophthalmic screening of newborns is performed using the red reflex test. Modern diagnostic algorithms include indirect binocular ophthalmoscopy with scleral indentation, digital imaging systems, artificial intelligence, OCT. Dental screening is aimed at detecting congenital oral anomaly such as lip and tongue tie, cleft lip and palate, and oral manifestations of maxillofacial disorders in genetic pathologies. Implementation of neonatal screening provides an opportunity for pre-symptomatic diagnosis of hereditary and congenital diseases, the timely detection of which and the appointment of appropriate treatment prevent the development of complications and improve the child’s quality of life. In the future, issues of an interdisciplinary approach to the management of rare diseases in infants will be covered.