Workpackage 11 Non invasive prenatal diagnosis (NIPD)

To date many diagnostic labs (both genetic and e.g. the blood banks) have integrated NIPD into their clinical routine. The technologies include but are not limited to MLPA, QF-PCR and will soon include arrays and next generation sequencing tools.

At the SAFE NoE website recommended protocols for DNA extraction as well as RhD determination can be found. However, and in contrast to what happens with the study of genetics diseases, there is not a uniformity on the protocols currently being used for NIPD among the labs performing these tests. Regarding the fetal sex assessment, an interesting tool in the Genetic Counselling to those couples at risk of an X-linked disorder, there is not even a recommended protocol.

Because of the special characteristics of the fetal DNA present in maternal blood and due to the wide range of labs and protocols, standards of quality in the diagnosis have to be well established and Best Practice guidelines need to be written. Besides, it is also of great importance to work on the development of sustainable EQA for laboratories that are practising and delivering NIPD. For this purpose, the existence of a already established SAFE Biobank is of great importance.

This WP has a close interaction to WP3 (External Quality Assessment) and WP9 (New emerging technologies). The application of the novel technologies (e.g. next generation sequencing) for the non invasive diagnosis for trisomy 21 already is under research with the intention of being applied in a near future. Regarding DNA extraction, in many labs the protocol remains largely manual extraction, and automation of the process is desirable.

Interaction with WP2 also is of great importance, since at present there is not a proper registry of the labs doing this kind of tests. This will not only help those labs who want to incorporate these non-invasive tests in their routine, since they can contact expertise labs to help them, but also those labs that are not interested in incorporating the technique due to the low workload but want to offer this diagnosis to their patients.

Three dissemination meetings are planned to define current state of the art and outline upcoming developments in NIPD. These meetings will build on the format used towards the end of SAFE and will deliver a high level of awareness of NIPD with the objective of informing all stakeholders, in particular those responsible for commissioning genetic testing, in order to expedite timely implementation of NIPD for the benefit of patients where appropriate.

To integrate and enable the development of sustainable QA provision in laboratories, a programme of training workshops will be run that will include providing standardised control maternal plasma samples, and optimisation of DNA extraction techniques using purpose-designed maternal plasma-DNA extraction kits (due on the market in 2010). RHD and SRY testing, standardised during SAFE workshops will be extended to incorporate testing laboratories in Eastern Europe.

WPLeader: Neil Avent

Participants: Lyn Chitty, Marta Rodriguez de Alba, Gert Matthijs


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