Translating Molecular Technologies into Routine Newborn Screening Practice
Open Access
- 15 October 2020
- journal article
- review article
- Published by MDPI AG in International Journal of Neonatal Screening
- Vol. 6 (4), 80
- https://doi.org/10.3390/ijns6040080
Abstract
As biotechnologies advance and better treatment regimens emerge, there is a trend toward applying more advanced technologies and adding more conditions to the newborn screening (NBS) panel. In the current Recommended Uniform Screening Panel (RUSP), all conditions but one, congenital hypothyroidism, have well-defined genes and inheritance patterns, so it is beneficial to incorporate molecular testing in NBS when it is necessary and appropriate. Indeed, the applications of molecular technologies have taken NBS to previously uncharted territory. In this paper, based on our own program experience and what has been reported in the literature, we describe current practices regarding the applications of molecular technologies in routine NBS practice in the era of genomic and precision medicine.Keywords
This publication has 45 references indexed in Scilit:
- Newborn Screening for Severe Combined Immunodeficiency; The Wisconsin Experience (2008–2011)Journal of Clinical Immunology, 2011
- Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14years of newborn screeningJournal of Cystic Fibrosis, 2011
- Development of a routine newborn screening protocol for severe combined immunodeficiencyJournal of Allergy and Clinical Immunology, 2009
- Population-based newborn screening for severe combined immunodeficiency: Steps toward implementationJournal of Allergy and Clinical Immunology, 2007
- Newborn screening for cystic fibrosis: Techniques and strategiesJournal of Inherited Metabolic Disease, 2007
- A survey of newborn screening for cystic fibrosis in EuropeJournal of Cystic Fibrosis, 2007
- Development of population-based newborn screening for severe combined immunodeficiencyJournal of Allergy and Clinical Immunology, 2005
- An efficient procedure for genotyping single nucleotide polymorphismsNucleic Acids Research, 2001
- Neonatal screening strategy for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis.BMJ, 1991
- Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screeningHuman Genetics, 1989