Articles and resources

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
Expanded newborn screening – An interview with Dr. Marianna Messina
Newborn
22 Apr 2021

Expanded newborn screening – An interview with Dr. Marianna Messina

Dr. Marianna Messina discusses her experiences introducing expanded screening to her laboratory in Italy.
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.
Variability of “Reported Fetal Fraction” in Noninvasive Prenatal Screening (NIPS)
Prenatal
18 Mar 2021

Variability of “Reported Fetal Fraction” in Noninvasive Prenatal Screening (NIPS)

Persson et al., Clinical Chemistry, 2021
Prenatal screening for trisomy 21: a comparative performance and cost analysis of different screening strategies
Prenatal
23 Nov 2020

Prenatal screening for trisomy 21: a comparative performance and cost analysis of different screening strategies

Huang et al., BMC Pregnancy and Childbirth, 2020. Provided by the Springer Nature SharedIt content-sharing initiative. No modifications were made on this material. https://creativecommons.org/licenses/by/4.0/
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.
Making NIPT accessible to all women
Prenatal
26 Jun 2020

Making NIPT accessible to all women

This webinar aims to address some of the obstacles that have prevented the widescale adoption of NIPT. Issues such as: cost, focus, precision and ease of use will all be examined by our speakers and then reevaluated using PerkinElmer's new Vanadis® NIPT platform. Speakers include Prof. Howard Cuckle (Tel Aviv University, Israel) and Dr Alka Chaubey (PerkinElmer Global Genomic, USA)
Universal access to NIPT: Cost-effective and precise cell-free DNA testing
Prenatal
08 Jun 2020

Universal access to NIPT: Cost-effective and precise cell-free DNA testing

This PerkinElmer satellite symposium organized at the European Society of Human Genetics (ESHG) Virtual Conference 2020 presents two laboratories’ experience with Vanadis® NIPT, an automated, non-sequencing cell-free DNA testing platform. Speakers include Dr. Alka Chaubey (PerkinElmer Global Genomic, USA) and Prof. Barbara Pasini (University of Turin, Italy).
LifeCycle™ software brochure
Prenatal
24 Apr 2020

LifeCycle™ software brochure

Clinical validation of a novel automated cell‐free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma
Prenatal
19 Aug 2019

Clinical validation of a novel automated cell‐free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma

Ericsson et al., Prenatal Diagnosis. 2019

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