Cell-Based NIPD: Where Are We Now and Where Are We Going?

Kaitlin Kelleher:
Hi everyone. Welcome to this podcast from Cambridge Healthtech Institute for the Advances in Prenatal Molecular Diagnostics Meeting, part of the Molecular Diagnostics Europe Summit, taking place 22 to 23 May in Lisbon, Portugal. I'm Kaitlin Kelleher, conference producer. We have with us today one of our speakers, Dr. Patrizia Paterlini-Brechot, a Professor of Cellular and Molecular Biology at University Paris Descartes. Thanks for being here today, Patrizia.

Patrizia Paterlini-Brechot:
Thank you Kaitlin.

Kaitlin Kelleher:
You're speaking on the latest advances in cell-based NIPD. What are the biggest challenges preventing this method from commercializing?

Patrizia Paterlini-Brechot:
First of all, I would like to explain the utility of working on fetal cells: both fetal cells circulating in blood and trophoblastic cells collected from cervix. These cells contain fetal DNA, which is not mixed with maternal DNA, and therefore they could be used to develop a non-invasive, prenatal diagnostic test that's reliable and applicable to aneuploidies and single-gene disorders.

If cellfree DNA is currently used for prenatal testing of aneuploidies, its application to the prenatal diagnosis of single-gene disorders faces technical difficulties. Single-gene disorders are considered a little bit rare, however, taken as a group they are known to affect 1 in 17 people, and approximately 7% of the population in the United Kingdom for instance.

Coming back to your question, Kaitlin. Our approach called ISET is able to isolate from blood and from the cervix trophoblastic cells without using antibodies, which is an advantage as fetal cells lack completely specific markers. The yield with our approach is very high, as we collect an average of 25 to 35 trophoblastic cells from 10ml of blood and 30 trophoblastic cells from cervical samples through a completely non-invasive collection method. Every single cell is identified as fetal cell through genetic analysis of its DNA, which is then used for prenatal diagnosis. Thus the overall approach is robust.

Now, the challenges bound to the commercialization of this approach are related to the possibility to develop a high throughput collection and genetic analysis of single cells. Thus to find the best workflow achieving this goal.

Kaitlin Kelleher:
What will it mean for the prenatal diagnostics field around the world when this method is commercialized?

Patrizia Paterlini-Brechot:
I would say the major advantage will be the availability of a reliable, rapid genetic test providing a true non-invasive alternative to invasive tests for prenatal diagnosis of genetic disorders, low-cost, allowing the diagnosis of multiple genetic disorders and a direct test not based on an informatic analysis of probability calculations.

Kaitlin Kelleher:
What do you think are the next steps and new frontiers for prenatal diagnostics?

Patrizia Paterlini-Brechot:
I think it's improving noninvasive genetic diagnosis, their reliability, their validity for multiple genetic disorders at the same time, and their affordability. In few words: developing a true and valid noninvasive alternative to the invasive methods, amniocentesis and chorionic villus sampling.

Kaitlin Kelleher:
Thank you so much for your time and insight today, Patrizia. That was Dr. Patrizia Paterlini-Brechot of the University Paris Descartes. She'll be speaking at the Advances in Prenatal Molecular Diagnostics Meeting at Molecular Diagnostics Europe on 22 and 23 May. If you'd like to hear her in person, go to moleculardxeurope.com for registration information and enter the keyword "podcast". I'm Kaitlin Kelleher, thank you for listening.