dépistage néonatal

Neonatal screening programmes have been introduced in almost all European countries. In practice there are large differences, especially in the panel of conditions that are screened for, often without clear reasons. Policy making on a European level is lacking in contrast to the situation in the USA. Professionals have the knowledge to expand the panels but are dependent on policy-makers for the necessary funds. This paper is a call on the EU Commission to take up a role in providing equal access to neonatal screening for all children within the EU.

Over the past 20 years, research on fragile X syndrome (FXS) has provided foundational understanding of the complex experiences of affected individuals and their families. Despite this intensive focus, there has been little progress on earlier identification, with the average age of diagnosis being 3 years. For intervention and treatment approaches to have the greatest impact, they need to begin shortly after birth. To access this critical timespan, differential methods of earlier identification need to be considered, with an emerging focus on newborn screening practices. Currently, barriers exist that prevent the inclusion of FXS on standard newborn screening panels. To address these barriers, an innovative program is being implemented in North Carolina to offer voluntary screening for FXS under a research protocol, called Early Check. This program addresses the difficulties observed in prior pilot studies, such as recruitment, enrollment, lab testing, and follow-up. Early Check provides an opportunity for stakeholders and the research community to continue to gain valuable information about the feasibility and greater impact of newborn screening on the FXS population.

Am J Med Genet A. 2018 Dec 17. doi: 10.1002/ajmg.a.60681. [Epub ahead of print]

A decision tree model was built to estimate the economic impact of introducing screening for X-linked adrenoleukodystrophy (X-ALD) into an existing tandem mass spectrometry based newborn screening programme.

Fatty acid β-oxidation (FAO) disorders have a wide variety of symptoms, not usually evident between episodes of acute decompensations. Cardiac involvement is frequent, and sever

Cystic fibrosis newborn screening (NBS), has not yet become a reality in all countries. We therefore compared the demographic and clinical characteristics of young children included in national cystic fibrosis registries from countries with and without NBS. We hypothesised that registries from countries with NBS would contain a higher proportion of milder and equivocal cases.

National cystic fibrosis newborn screening programmes lead to changes in the composition of the CF registry cohort <http://ow.ly/12o8304uinU>

All patients, cystic fibrosis centre directors and personnel who contribute to national cystic fibrosis registries.

Tandem mass spectrometry (MS/MS) has been used for newborn screening (NBS) of inherited metabolic diseases (IMDs) for decades. However, the traditional approach can yield false-positive or false-negative results and is affected by biochemical substrate-level fluctuations. To overcome the current limitations, we explored the possibility of using next-generation sequencing (NGS) as a second-tier diagnostic test to detect gene mutations in samples with abnormal MS/MS results.

The genomic DNA extracted from dried blood spots could be used for NGS, generating reliable sequencing results, and NGS may function as a second-tier diagnostic test for NBS. Ion PGM could facilitate the molecular diagnosis of IMDs with appropriate primers designed for candidate genes.

Conclusions: This ddPCR method is sensitive, specific, and applicable to newborn screening and carrier status determination for SMA. It can also be incorporated with a parallel ddPCR T-cell excision circles assay for severe combined immunodeficiencies.

Rev Med Liege. 2018 Oct;73(10):497-501. English Abstract; Practice Guideline

Background: Understanding preferences for information provision in
the context of health care service provision is challenging because of the
number of potential attributes that may influence preferences. This study aimed
to identify midwives