Articles and resources

Newborn
09 Jun 2021

A Case of SMA with Pompe Disease in India

In a recent case in India, a child was diagnosed with simultaneous Pompe disease and spinal muscular atrophy (SMA). See Dr. Priyanshu Mathur’s presentation to learn more about the rare case and how the child was identified for treatment.
Genomic sequencing in newborns – yes or no?
Newborn
09 Jun 2021

Genomic sequencing in newborns – yes or no?

It’s technically possible to produce high-quality genomic sequencing data from blood spot cards used in newborn screening. However, there are cost considerations, ethical issues as well as limitations in infrastructure and human resources to delivering genomic sequencing at scale. What additional value would genomic sequencing bring to newborn screening? For fresh insights, see the presentation by Professor John Christodoulou of the University of Melbourne Department of Paediatrics.
Molecular testing in newborn screening: how far we’ve come
Newborn
09 Jun 2021

Molecular testing in newborn screening: how far we’ve come

In her presentation, Professor Mei Baker of the University of Wisconsin Department of Pediatrics discusses the state of molecular testing in newborn screening. Wisconsin’s screening program covers 47 disorders, including hemoglobinopathies, fatty acid disorders, amino acid disorders and the latest addition, Spinal Muscular Atrophy (SMA). Click below to learn some of the latest results and insights in molecular testing.
How do you keep your newborn screening program running under COVID-19 pressure?
Newborn
09 Jun 2021

How do you keep your newborn screening program running under COVID-19 pressure?

Under these extraordinary circumstances, it takes some creative maneuvering to keep your newborn screening program going efficiently. Professor Carmencita Padilla of the University of the Philippines shares the lessons learned from the creative strategies and continuity plans implemented throughout the Philippine newborn screening program. See her presentation for practical advice and ideas on how to run your program under COVID-19 pressure.
Multiplex Real-time PCR Newborn Screening Assay to Simultaneously Identify Spinal Muscular Atrophy and Severe Combined Immunodeficiency
Newborn
26 May 2021

Multiplex Real-time PCR Newborn Screening Assay to Simultaneously Identify Spinal Muscular Atrophy and Severe Combined Immunodeficiency

Professor Mei Baker discusses Identifying Spinal Muscular Atrophy and Severe Combined Immunodeficiency using Real-time PCR newborn screening
First SMA baby identified with our screening solutions in Australia
Newborn
26 Apr 2021

First SMA baby identified with our screening solutions in Australia

A newborn baby has been identified as having SMA (spinal muscular atrophy) in Westmead Children’s Hospital in Australia, using a 4-plex SMA, SCID and XLA laboratory developed test

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