Articles and resources

Prenatal
28 Jul 2022

PerkinElmer Tests Included in UK’s Updated NICE Diagnostic Guidance for Pre-Eclampsia DG-49

Two PerkinElmer CE marked tests are recommended in latest version of NICE guidance “PLGF-based testing to help diagnose suspected preterm pre-eclampsia” for UK healthcare providers
Designing a quantitative PCR assay for fetal RhD genotyping from maternal plasma derived cell free fetal DNA (cffDNA)
Prenatal
12 Jul 2022

Designing a quantitative PCR assay for fetal RhD genotyping from maternal plasma derived cell free fetal DNA (cffDNA)

M.Sc. Suvi Parviainen and Ph.D. Ville Veikkolainen. Poster presented at the ESHG conference 2022.
Consequences of imprecision in fetal fraction estimation on performance of cell-free DNA screening for Down syndrome
Prenatal
11 Jul 2022

Consequences of imprecision in fetal fraction estimation on performance of cell-free DNA screening for Down syndrome

Persson F. and Cuckle H.S., Prenat Diagn. 2022
World View Newborn Screening Congress
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.
Rule-in and rule-out of pre-eclampsia using DELFIA Xpress PlGF 1-2-3 and sFlt-1: PlGF ratio
Prenatal
14 Mar 2022

Rule-in and rule-out of pre-eclampsia using DELFIA Xpress PlGF 1-2-3 and sFlt-1: PlGF ratio

The objective of this study was to explore and validate thresholds for Placental growth factor (PlGF) and soluble fms-like tyrosine-kinase 1 (s-Flt-1) (as s-Flt-1: PlGF ratio), to rule-in and rule-out disease in women with suspected pre-eclampsia, using DELFIA® Xpress PlGF1-2-3 and sFlt-1 assays. Published in Pregnancy Hypertension, Volume 27, March 2022
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
Examination of False Positives in Fetal cfDNA Analysis
Prenatal
20 Dec 2021

Examination of False Positives in Fetal cfDNA Analysis

The lecture entitled “Clinical Validation of Fetal cfDNA Analysis Using Rolling-Circle-Replication and Imaging Technology in Osaka (CRITO Study) ” was presented by Dr Ritsuko Pooh at the 8th World Congress on Controversies in Preconception, Preimplantation and Prenatal Genetic Diagnosis (CoGEN) in 2021.
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

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