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.
Entering a new chapter in the treatment of Duchenne Muscular Dystrophy
Newborn
04 Mar 2022

Entering a new chapter in the treatment of Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a rare, X-linked pediatric neuromuscular disease with onset in early childhood, leading to progressive loss of function. With life-altering treatments on the near horizon, there is a growing need to identify boys born with Duchenne in order for them to benefit from the emerging therapies as early as possible. See our videos for clinical aspects of DMD, insights on early detection, setting up a screening pilot, and more.
Whole Genome Sequencing for Newborn Screening
Newborn
01 Feb 2022

Whole Genome Sequencing for Newborn Screening

This article from Medical Technology discusses the ethical and social arguments for whole genome sequencing in newborn screening
OZ Systems joins PerkinElmer
Newborn
17 Dec 2021

OZ Systems joins PerkinElmer

Oz Systems, the newborn screening software and interface provider, is now part of PerkinElmer. OZ Systems is known for its expertise in developing cloud-based newborn blood spot, hearing and heart screening information management systems which improve patient care and intervention timeliness.
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 historical perspective on Sickle Cell Disease: How did we get here?
Newborn
13 Jul 2021

A historical perspective on Sickle Cell Disease: How did we get here?

In her enlightening presentation, Dr. Venée N. Tubman takes a historical perspective on our understanding of Sickle Cell Disease. From African folk beliefs and oral histories, to early clinical observations in the 19th century, to the first newborn screening efforts in the USA in the 1970s, to the present challenges in sub-Saharan Africa. Dr. Tubman discusses how newborn screening could make a great difference in future decades, and what potentially lies ahead. See the presentation for great insights on SCD.
Consortium on Newborn Screening in Africa: news from Nigeria
Newborn
13 Jul 2021

Consortium on Newborn Screening in Africa: news from Nigeria

Nigeria is severely burdened by Sickle Cell Disease, with an estimated of 150,000 babies born with SCD each year. Many infants do not reach adolescence, however about 70% of deaths could be prevented with low-cost diagnostic and treatment plans. In her presentation, Professor Obiageli Nnodu discusses the future hopes for Nigeria, including ongoing newborn screening projects and learning ways to develop and expand screening programs.
Showing the benefits of early intervention for children with SCD
Newborn
13 Jul 2021

Showing the benefits of early intervention for children with SCD

More than 300,000 babies are born with Sickle Cell Disease (SCD) each year in sub-Saharan Africa, many resulting in death by the age of five. The Consortium on Newborn Screening in Africa (CONSA) and their network of partners are taking life-saving action by demonstrating the effectiveness of early intervention. The aim to screen up to 10,000–20,000 babies per country annually and to provide clinical follow-up for SCD-positive babies. See a presentation by Dr. Maureen Achebe to learn more.
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.
Newborn screening for LSDs – a pilot study from Brazil
Newborn
09 Jun 2021

Newborn screening for LSDs – a pilot study from Brazil

Early diagnosis of lysosomal storage disorders is essential for better patient outcomes. In her presentation, Dr. Francyne Kubaski of the Medical Genetics Service of Brazil shares the learnings from an LSD newborn screening pilot study using tandem mass spectrometry. The study was conducted using PerkinElmer’s NeoLSD ™ MSMS kit, which enables screening of up to six lysosomal storage disorders from a single blood spot punch. See the video to learn more.
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