Articles and resources

Prenatal
24 Nov 2021

Implications of Fetal Fraction measurement variability in NIPS – Webinar Transcript

The lecture entitled “Implications of fetal fraction measurement variability in NIPS” was presented by Dr Fredrik Persson at the 2021 International Society for Prenatal Diagnosis (ISPD) conference.
Clinical Validation of Fetal cfDNA Analysis Using Rolling-Circle-Replication and Imaging Technology in Osaka (CRITO Study)
Prenatal
08 Oct 2021

Clinical Validation of Fetal cfDNA Analysis Using Rolling-Circle-Replication and Imaging Technology in Osaka (CRITO Study)

Pooh, R.K.; Masuda, C.; Matsushika, R.; Machida, M.; Nakamura, T.; Takeda, M.; Ohashi, H.; Kumagai, M.; Uenishi, K.; Roos, F.; Persson, F.; Shimokawa, O. Clinical Validation of Fetal cfDNA Analysis Using Rolling-Circle-Replication and Imaging Technology in Osaka (CRITO Study). Diagnostics 2021, 11, 1837. https://doi.org/10.3390/diagnostics11101837
Screening saves lives, so why don’t governments fund it? – Nature
Newborn
09 Sep 2021

Screening saves lives, so why don’t governments fund it? – Nature

This article in Nature: "Screening saves lives, so why don’t governments fund it?" highlights the efforts made by CONSA (supported by PerkinElmer) to bring newborn screening to Africa.
Evaluation of repeat testing of a non-sequencing based NIPT test on a Finnish general-risk population
Prenatal
07 Sep 2021

Evaluation of repeat testing of a non-sequencing based NIPT test on a Finnish general-risk population

Karlsson F, Ahola T, Dahlberg J, Prensky L, Moilanen H, Spalding H. Evaluation of repeat testing of a non- sequencing based NIPT test on a Finnish general- risk population. Acta Obstet Gynecol Scand. 2021;100:1497–1500. https://doi.org/10.1111/aogs.14125
Understanding Fetal Fraction in cfDNA screening
Prenatal
30 Aug 2021

Understanding Fetal Fraction in cfDNA screening

Fetal fraction has been used by some laboratories to determine if they can have confidence in their results. However, there are significant factors to consider when determining its merit, including assay precision, the accuracy of a reported fetal fraction metric and the implications of using a fetal fraction cutoff. In the enclosed publication, we present the science, the data and the impact of using the fetal fraction metric within a clinical context.
Improved outcomes through pre-eclampsia management: Different solutions for different needs
Prenatal
03 Aug 2021

Improved outcomes through pre-eclampsia management: Different solutions for different needs

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
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.
Evaluation of Vanadis system as an alternative method for cell-free fetal DNA assay in maternal plasma
Prenatal
22 Jun 2021

Evaluation of Vanadis system as an alternative method for cell-free fetal DNA assay in maternal plasma

Imma Mercadé, Robin Wijngaard, Javier Laguna, Maria Rodriguez, Elena Casals. Servicio de Bioquímica y Genética Molecular, CDB, Hospital Clínic de Barcelona. Poster presented at the ECPM conference 2021.

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