Articles and resources

Newborn
05 May 2022

World View Newborn Screening Congress

We are very excited to announce the World View Newborn Screening Summit 2022 from 28-30th June in conjunction with International Neonatal Screening Day. There will be discussion around the latest advances in screening, but also hearing from those projects initiating new screening services. This event will have over 20 presentations from participants from 11 different countries. The sessions will be live streamed during the event and will be available ‘On-Demand’ after the event for those who register. Registration for the World View Newborn Screening Summit is free, and there will be opportunity to submit questions during the event to the speakers.
SMA Europe launches whitepaper
Newborn
01 Dec 2021

SMA Europe launches whitepaper

The European Alliance for SMA Newborn Screening has set out a goal to have Spinal Muscular Atrophy (SMA) included in all newborn screening programmes by 2025 To explain their position and learn more about the importance of SMA screening they have launched a whitepaper, which can be downloaded from their website. Follow link for the paper
A Case of SMA with Pompe Disease in India
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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