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.
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.
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.
Performance of commercially available placental growth factor tests in women with suspected preterm pre‐eclampsia; the COMPARE study
Prenatal
09 Jun 2021

Performance of commercially available placental growth factor tests in women with suspected preterm pre‐eclampsia; the COMPARE study

F.P. McCarthy et. al. Ultrasound in Obstetrics & Gynecology
Aspirin for Evidence-Based Preeclampsia Prevention trial: effect of aspirin on length of stay in the neonatal intensive care unit
Prenatal
09 Jun 2021

Aspirin for Evidence-Based Preeclampsia Prevention trial: effect of aspirin on length of stay in the neonatal intensive care unit

David Wright et. al. The American Journal of Obstetrics & Gynecology
Aspirin versus Placebo in Pregnancies at high Risk for Preterm Preeclampsia
Prenatal
09 Jun 2021

Aspirin versus Placebo in Pregnancies at high Risk for Preterm Preeclampsia

Daniel L. Rolnik et. al. The New England Journal of Medicine
Multiplex Real-time PCR Newborn Screening Assay to Simultaneously Identify Spinal Muscular Atrophy and Severe Combined Immunodeficiency
Newborn
26 Mai 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 Mai 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

Products may not be licensed in accordance with the laws in all countries, such as the United States, Canada. Please check with your local representative for availability.

PerkinElmer does not endorse or make recommendations with respect to research, medication, or treatments. All information presented is for informational purposes only and is not intended as medical advice. For country specific recommendations please consult your local health care professionals.