Neonatal screening for Severe Combined Immunodeficiency.

Abstract

Severe Combined Immunodeficiency (SCID) is the most severe form of primary immunodeficiency. This syndrome is caused by genetic mutations that block the development of T cells. Based on the records from a combined prospective data analysis from the neonatal screening program in the United States of America, the incidence of SCID is approximately 1 in 58,000 infants. The early diagnosis of SCID before any clinical symptom or the occurrence of serious complications is proven to improve the survival rates after the hematopoietic stem cell transplantation, which is the recommended treatment. This literature review aims at analysing all the advantages and disadvantages of the implementation of SCID testing in the neonatal screening programs. The presentation of SCID, the available screening methods to detect the disease and the cost effectiveness related to the screening are also presented. The search engine used to conduct this review was PubMed. To conclude, the screening method for SCID that quantifies the T-cell receptor excision circles using reverse transcription for real-time quantitative polymerase chain reaction is proven to be cost-effective has a sensitivity and specificity of nearly 100% and allows to detect the disease at an early stage, while it still has a good prognosis. This method has already been implemented in some countries with good results. *Corresponding author: Gonçalo Espírito Santo Matos, Abel Salazar Institute of Biomedical Sciences, University of Porto, Porto, Portugal, Tel: +351968728278; E-mail: goncaloespiritosantomatos@gmail.com Received: May 24, 2018; Accepted: July 09, 2018; Published: July 16, 2018 Citation: Matos GES, Marques L (2018) Neonatal Screening for Severe Combined Immunodeficiency. J Preg Child Health 5: 383. doi:10.4172/2376-127X.1000383 Copyright: © 2018 Matos GES, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.