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Join the industry-leading Microdeletions Plugin Accelerator and help shape the future of expanded clinical testing for NIPT

Yourgene Health are seeking early adopters to join our Microdeletions Plugin Accelerator. This Accelerator follows a successful pilot phase with LifeStrands Genomics, where we have demonstrated the performance and usability of the Plugin to detect chromosomal microdeletions.  The Accelerator phase aims to expand upon this validation work, ensuring the Plugin excels in precision, reliability and ease-of-use. You can read more about the aims of the Accelerator project here, and about our partnership with LifeStrands here

The Plugin has been designed for use with the  IONA® Nx NIPT Workflow and has compatibility within Yourgene’s wider NIPT testing portfolio. The Plugin tests for microdeletions ≥3Mb in size, that are linked to a number of syndromes:

MicrodeletionAssociated syndromeTypical size / range
1p36 1p36 deletion 199kb – 13 Mb
4p Wolf Hirschhorn 2 – 20 Mb
5p Cri du Chat Cri du Chat
15q11-q13 Prader Willi & Angelman 5 – 6.5 Mb
22q11.2 Di George 1.5 – 3 Mb

We have provided answers to some frequently asked questions about the project and the Plugin below. If you are interested in joining the Accelerator and gaining early access to the Plugin, please This email address is being protected from spambots. You need JavaScript enabled to view it..

+ - What are microdeletion syndromes?

Microdeletion syndromes are caused by chromosomal deletions that include several genes, but that are too small to be detected by conventional methods such as karyotyping. A microdeletion is identified by genomic position and by size, and many result in a clinically benign phenotype, however some are characterised by a complex disorder. Syndromes associated with microdeletions can present with a range of clinical features, including: intellectual disabilities, developmental delay, heart defects and failure to thrive. We are able to screen for 5 clinically significant microdeletions ( ≥3Mb) associated with the following conditions:

Microdeletion (chromosome location)Microdeletion Syndrome
22q11 deletion

DiGeorge/Velocardiofacial syndrome

1p36 deletion 1p36 deletion syndrome

15q11-q13 paternal deletion

Prader-Willi syndrome

15q11-q13 maternal deletion

Angelman syndrome
5p15 deletion Cri-du-Chat syndrome
4p16 deletion Wolf-Hirschhorn syndrome

+ - Why is it important to screen for microdeletions?

The vast majority of microdeletions occur de novo i.e. they are not inherited from the parents. In some cases however, they can be inherited from an apparently unaffected parent. Unlike common trisomies, microdeletions are not thought to be associated with advanced maternal  age. Younger pregnant women statistically have a higher risk of a sub-microscopic aberration than for trisomy 21. This also must be considered in pregnancies resulting from egg donation.

Pregnancies with enlarged nuchal translucency and an abnormal serum parameters in a first trimester screening increases prevalence of microdeletions. They may be as frequent as 13.8% in fetuses with NT ≥ 3.5 mm[1].

Screening that can identify a subset of pregnancies at high risk for the most common serious microdeletion syndromescould help in reducing the   number of pregnancies where the condition is not identified until after the birth. This wouldenable improved care by allowing the expectant woman or couple to prepare, as well as giving them reproductive choices around continuation of the pregnancy. Should the pregnancy continue, a diagnosis can improve neonatal management and overall quality of life for the child. 

+ - What is the Accelerator programme?

This Accelerator follows a successful pilot phase with LifeStrands Genomics, and represents a new era in Yourgene’s approach to delivery of NIPT testing solutions, with a focus on ‘Collaboration to Perform’. The Pilot study has demonstrated the performance and usability of the Plugin to detect chromosomal microdeletions. The Accelerator phase aims to expand upon this validation work, ensuring the Plugin excels in precision, reliability and ease-of-use. We’ll be using this time to collect more data on performance, including gathering positive and negative predictive value estimates. The feedback we gather from this Accelerator phase will be put in to action to ensure that the Plugin launched gives results you can not only trust, but truly understand. 

Working as a partnership, rather than the traditional laboratory/manufacturer relationship, represents a shared commitment to ensuring high-quality and performance-driven testing, ultimately delivering better outcomes for patients.

+ - How does the Plugin detect microdeletions?

Firstly, the sample must present a valid result for the presence of Trisomy 13, 18 and 21, then additional and more stringent QC checks are in place for microdeletion testing. For samples that meet the QC criteria, the analysis of each of the five microdeletions is performed. Target regions for each microdeletion were defined using published genomic positions, with each region split into 1Mb ‘bins’, each bin is then compares to a reference region known to be stable and consistent relative to the microdeletion region. The z-score for each bin is compared to a set of a microdeletion- specific thresholds. A minimum number of bins crossing a z-score threshold required before a ‘microdeletion detected’ result is presented. Further information on the methodology is available upon This email address is being protected from spambots. You need JavaScript enabled to view it..

+ - What is the minimum fetal fraction required for microdeletion testing?

In order to generate a valid result with a high-confidence call, the Plugin requires a minimal fetal fraction of 5%. This is higher than the standard IONA® Nx analysis, which requires 2% fetal fraction as a dynamic cut-off. 

+ - Can you use the microdeletion Plugin for twin pregnancies?

Yes, the Plugin has been validated on singleton and monochorionic twin pregnancies only.

+ - Do we have to test for all 5 microdeletions?

No, you can select on an individual basic which microdeletions you want to test for. If a microdeletion is detected and has been included for analysis, the result is displayed as ‘Detected’ and the region listed. ‘Not Detected’ is reported when no microdeletion is detected. The microdeletion analysis is a screening test. A ‘Not Detected’ result does not indicate that the fetus will be free from a genetic microdeletion or associated condition.

+ - Who is eligible for the Accelerator? Do I have to be an IONA® customer?

The feature has been designed for use with the IONA® Nx NIPT Workflow and has compatibility within Yourgene’s wider NIPT testing portfolio. Please This email address is being protected from spambots. You need JavaScript enabled to view it. to discuss your specific requirements as part of your application to the Accelerator.

+ - How well did the test perform in the pilot?

Initial data suggests the Plugin has a test sensitivity and specificity in line with industry standards, and overall the Plugin is performing reliably and accurately. As the project is progressing at pace and we anticipate the data being updated regularly, the latest values are made available upon This email address is being protected from spambots. You need JavaScript enabled to view it.. Aligned to our ‘Collaboration to Perform’ initiative [see – ‘What is the Accelerator programme?’], at this time we are choosing to collect further robust validation data from multiple sites before calculating the PPV or NPV for the test. This is because we want to ensure that that the performance metrics derived are meaningful for everyone, especially pregnant women and expectant couples.

Our priority is ensuring we optimise to reduce false positive rates to as low as possible, whilst complementing the wider clinical testing pathway. In doing so, we're reducing the number of unnecessary invasive procedures, which are a significant cause of anxiety of expectant women and couples, as well as carrying a risk of miscarriage.

The Accelerator phase will include a priority focus project to develop collaborative, patient-friendly resources that help give care givers confidence in explaining test limitations and performance.

+ - How long do you anticipate the Accelerator programme will last?

We anticipate the programme will last until at least the end of 2022, at which time we will look to launch the live Plugin offering.

+ - How can I find out further information?

You can contact us using the following This email address is being protected from spambots. You need JavaScript enabled to view it., or via your local account representative.

References
I. Maya et al., “Cut-off value of nuchal translucency as indication for chromosomal microarray analysis,” Ultrasound Obstet.Gynecol.,

Microdeletion (chromosome location)

Microdeletion Syndrome
22q11 deletion

DiGeorge/Velocardiofacial syndrome

1p36 deletion 1p36 deletion syndrome

15q11-q13 paternal deletion

Prader-Willi syndrome

15q11-q13 maternal deletion

Angelman syndrome
5p15 deletion Cri-du-Chat syndrome
4p16 deletion Wolf-Hirschhorn syndrome