Non-Invasive Prenatal Diagnosis for early detection of Cystic Fibrosis
Couples carrying Cystic Fibrosis (CF) and those from the genetically isolated population around Volendam—where severe genetic diseases like Primary Ciliary Dyskinesia (PCD) are common—form the largest group opting for prenatal diagnosis (PND) in the Netherlands. These couples pursue PND to avoid passing on the disease or to enable close pregnancy monitoring and early postnatal intervention. Currently, PND involves physically burdensome and risky invasive invasive procedures. A novel public-private partnership involving the UMCU Departments of Genetics and Pediatric Pulmonology and biotech company GenDx, aim to offer these risk couples a less burdensome, safe and much-needed alternative by developing and clinically implementing a generic non-invasive prenatal diagnostic (NIPD) blood test.
Current invasive PND involves surgery and comes with a small (0.2–0.5%) miscarriage risk. Also, it can only be offered after week 11 of pregnancy. Risk couples opting for PND would tremendously benefit from the availability of a simpler NIPD blood test that can be offered earlier in pregnancy (week 8-10). Simpler and earlier diagnosis enables timely initiation of appropriate interventions, thereby maximizing parental reassurance and offering affected children the best possible chance at an optimal quality of life.
For implementation in routine clinical diagnostics, development of a generic all-in-one method suitable for different risk couples carrying diverse monogenic diseases, is needed.
In this project we will capitalize on our collective expertise to develop DNA processing protocols and software analysis pipelines for robust prenatal diagnosis of a large spectrum of monogenic diseases based on analysis of parental and fetal DNA isolated from blood. For validation, NIPD will be applied to hundred participating pregnant risk couples. We aim to deliver and implement NIPD methodology that is simpler, earlier and safer, to support disease prevention and early treatment strategies of conditions like CF.
