The IONA® Nx NIPT Workflow estimates the risk of a fetus having Down’s syndrome (Trisomy 21), Edwards’ syndrome (Trisomy 18) and Patau’s syndrome (Trisomy 13). In addition, a genome-wide aneuploidy detection analysis on the remaining chromosomes can be carried out and reported.

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.

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.

Upon request, the fetal sex can be determined with 99.5% accuracy.

This test is registered as a regulated IVD in many different regions. Yourgene Genomic Services use the IONA® Nx NIPT Workflow in our Manchester laboratory (UK) to offer a quality NIPT testing service.

The IONA® Nx NIPT Workflow is a highly flexible NIPT solution which can be easily scaled to meet the testing demands of your clinical laboratory. It is available as both an automated and manual workflow offering between 12 and 48 patient samples per sequencing run on the Illumina NGS platform.

Yourgene has developed its own automated, custom, dedicated bioinformatics analysis software as part of the IONA® Nx NIPT clinical workflow. The IONA® Software employs highly efficient, multi-core analysis algorithms. It analyses the relative amount of chromosomes 21, 18 and 13 to calculate a risk score for the presence of a trisomy. This result is then further detailed by automatically combining it with the age-related risk of the mother at the time of sampling to calculate an adjusted probability of the fetus being affected. A results report is generated individually for each patient. The IONA® Software allows secure local data analysis, it is not cloud-based, and no bioinformatics personnel are required.

Screening test results can be sent to clinics using the MyNIPT® portal, our safe and secure data exchange portal.

The Atlas Workflow Manager is a custom, comprehensive Data Management System (DMS) which can interface with your LIMS systems to track your clinical samples and reagents from start to reporting.

The clinical performance of the IONA® Nx NIPT Workflow is assessed as part of the development process prior to product launch. Post-launch, as required by the medical device regulation and for our quality system we monitor performance via Post-Market Surveillance (PMS). Post-market surveillance is a set of activities conducted by manufacturers to collect and evaluate experience gained from medical devices that have been placed on the market. It is done with the intention of ensuring we can identify any trends that suggest the need to take any action e.g. withdrawing a faulty batch from the market.

This has been demonstrated using the IONA® Nx cfDNA Library Preparation DX kit and the IONA® analysis software version 2.0.2. Data held on file by Yourgene Health Plc.