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Newborn bloodspot screening

Updated: Jan 6, 2023

An update from the Chair of our Board of Directors, Kirsten Johnson

Over the years, Fragile X Syndrome has been reviewed by the National Screening Committee for various population screening programmes. The last review, in 2019, asked us to resubmit a proposal for newborn screening in three years’ time. That submission went in early December, and we hope that it meets the criteria for Fragile X Syndrome to be reviewed in detail for admission onto the Newborn Screening Blood Spot programme. We are grateful for support from many our Specialist Advisors in putting this application together.

Many of you took part in a research project run by Dr Felicity Boardman on families’ views around screening. The results showed that families were very much in favour of newborn screening (see note 1 below).

A flowchart showing how Newborn Blood Spot screening would work in practice is here:

An extract from our submission is as follows:

One baby born every 3 days in the UK has Fragile X Syndrome (FXS). FXS is a neurodevelopmental condition, the most common cause of inherited intellectual disability and the most common genetic cause of autism. Early identification of FXS facilitates early intervention, which improves clinical outcomes and increases choices for future pregnancies. Therefore, we propose Fragile X Syndrome (but not the premutation) is included in the Newborn Blood Spot Test.

There is not a ‘cure’ for FXS but there is robust evidence that early intervention leads to a significant improvement in symptoms and increased quality of life for each year of life. The NHS already has a structure for the necessary interventions, therefore there are no increased costs. Indeed, savings can be made by early referrals (e.g. to specialist occupational, speech, physical therapists, not all of which will be necessary for each child) as there will not be longer-term escalating costs due to later intervention.

Early identification of FXS empowers families by opening up reproductive options, including preimplantation genetic diagnosis for future pregnancies.

Note 1. Boardman F. K. (2021). Attitudes toward population screening among people living with fragile X syndrome in the UK: 'I wouldn't wish him away, I'd just wish his fragile X syndrome away'. Journal of genetic counselling, 30(1), 85–97.


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