Κατεύθυνση Ιατρική Γενετική: Κλινική και Εργαστηριακή Κατεύθυνση
Library of the School of Health Sciences

2023-05-10

2023

Psychogiou Angeliki

Κέκου Κυριακή, ΕΔΙΠ, Ιατρική Σχολή, ΕΚΠΑ
Βρεττού Χριστίνα, ΕΔΙΠ, Ιατρική Σχολή, ΕΚΠΑ
Σοφοκλέους Χρισταλένα, ΕπίκουρηKκαθηγήτρια, Ιατρική σχολή, ΕΚΠΑ

Η σύγχρονη αντιμετώπιση και πρακτική στον νεογνικό έλεγχο "newborn screening"

Greek

Modern treatment and practise in neonatal screening "Νewborn screening"

Newborn screening is a procedure that is performed preventively in newborns, usually in drops of blood on a special card, to identify disorders in which the symptoms typically do not present during the neonatal period, have significant health consequences for the infant later and can be treated. The goal is to provide early intervention that will alter the clinical course of the disease and prevent or ameliorate the clinical manifestations. Newborn screening was first applied in Massachusetts, USA in 1959 using dried drops of blood spots on special filter paper (Guthrie card) for the diagnosis of phenylketonuria, the success of which led to the addition of many more metabolic and endocrine diseases. Newer disorders added to the US Department of Health and Human Services recommended list (RUSP) include Severe Combined Immunodeficiency, Krabbe disease, Spinal Muscular Atrophy, X-linked Adrenoleukodystrophy, Guanidoacetate Methyltransferase deficiency, Congenital Heart disease, Mucopolysaccharidosis type I and type II. This project’s objective is to show the evolution of neonatal screening through a thorough literature assessment of pertinent studies.
In the results was found that newborn screening for galactosemia significantly contributed to the reduction of mortality. The ideal screening method for hip dysplasia is still under investigation, while screening based on risk factors has been rejected. In severe combined immunodeficiency, early diagnosis and treatment with hematopoietic cell transplantation was confirmed to improve clinical progress and the utility of TREC/KREC screening was demonstrated. Positive results from early treatment were also found for GAMT disease. A reduction in the number of copies of the wild-type gene proved to be an adequate way of identifying individuals with familial hemophagocytic lymphosterocytosis. For the treatment of spinal muscular atrophy, a recent study confirmed the success of the application of Zolgensma gene therapy, setting however the high cost as limiting factor, while two drugs have still been approved (Spiranza, Evrysdi). The limited amount of information on the benefit of early treatment in children with Duchenne disease has not yet allowed to be included in the RUSP. Despite all the different approaches identified in newborn screening programs, an important milestone was the advent of mass spectrometry, a diagnostic tool used internationally. Finally, the development of innovative therapies based on genome technologies such as next-generation sequencing and gene therapy have created great anticipation for the future of neonatal screening, however, there is still concern about long-term side effects from the application of genetic therapies.

Health Sciences

Newborns screening, Spinal muscular atrophy, Inherited metabolic disorders, Galactosemia, Developmental dysplasia of the hip, Pompe disease, Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, X-linked Adrenoleukodystrophy, Krabbe disease, Guanidinoacetate Methyltransferase deficiency, Severe Combined Immunodeficiency

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https://pergamos.lib.uoa.gr/uoa/dl/object/3327458