Next Article in Journal
Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns
Previous Article in Journal
Validation and Implementation of a Highly Sensitive and Efficient Newborn Screening Assay for Mucopolysaccharidosis Type II
Previous Article in Special Issue
Harmonizing Newborn Screening Laboratory Proficiency Test Results Using the CDC NSQAP Reference Materials
Open AccessReview

Translating Molecular Technologies into Routine Newborn Screening Practice

by Sarah M. Furnier 1,2, Maureen S. Durkin 1,2,3 and Mei W. Baker 1,2,3,4,*
1
Department of Population Health Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI 53705, USA
2
Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA
3
Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53705, USA
4
Wisconsin State Laboratory of Hygiene, University of Wisconsin School of Medicine and Public Health, Madison, WI 53706, USA
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2020, 6(4), 80; https://doi.org/10.3390/ijns6040080
Received: 22 September 2020 / Revised: 12 October 2020 / Accepted: 14 October 2020 / Published: 15 October 2020
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. View Full-Text
Keywords: newborn screening; next generation sequencing; droplet digital polymerase chain reaction; real-time polymerase chain reaction; Tetra-primer amplification refractory mutation system–polymerase chain reaction; severe combined immunodeficiency; spinal muscular atrophy; cystic fibrosis newborn screening; next generation sequencing; droplet digital polymerase chain reaction; real-time polymerase chain reaction; Tetra-primer amplification refractory mutation system–polymerase chain reaction; severe combined immunodeficiency; spinal muscular atrophy; cystic fibrosis
Show Figures

Figure 1

MDPI and ACS Style

Furnier, S.M.; Durkin, M.S.; Baker, M.W. Translating Molecular Technologies into Routine Newborn Screening Practice. Int. J. Neonatal Screen. 2020, 6, 80.

Show more citation formats Show less citations formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Back to TopTop