Articles and resources

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
PlGF and assessment of placental function in the first and third trimesters of pregnancy
Prenatal
14 May 2021

PlGF and assessment of placental function in the first and third trimesters of pregnancy

Professor Jon Hyett, Head of High-Risk Obstetrics and a Senior Staff Specialist in Obstetrics, and Maternal and Fetal Medicine Royal Prince Alfred Hospital, Sydney, Australia
First trimester prediction and prevention of pre-eclampsia
Prenatal
24 Apr 2021

First trimester prediction and prevention of pre-eclampsia

Kypros Nicolaides, Professor at King’s College Hospital, London (UK) and founder of Fetal Medicine Foundation (FMF) presents the latest development on predicition and prevention of preterm pre-eclampsia.
Idario Santos – Sweet Odyssey
Newborn
22 Apr 2021

Idario Santos – Sweet Odyssey

Idario Santos - talks about his sons journey with Maple Syrup Urine Disease - Sweet Odyssey
An innovative approach to sickle cell screening in Uganda – Interview with Charles Kiyaga
Newborn
22 Apr 2021

An innovative approach to sickle cell screening in Uganda – Interview with Charles Kiyaga

An innovative approach to sickle cell screening in Uganda - Interview with Charles Kiyaga
First years of experience on LSD screening in Italy, Padova
Newborn
22 Apr 2021

First years of experience on LSD screening in Italy, Padova

The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) for lysosomal storage diseases (LSDs). We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases.
Minimizing Patients’ Risk of Adverse Outcomes in NIPT
Prenatal
26 Sep 2020

Minimizing Patients’ Risk of Adverse Outcomes in NIPT

Lawrence Prensky, MS, LCGC, CCGC, discusses the challenges within NIPT on one of the biggest stages in prenatal health, the CoGEN 2020 World Conference.

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