Non-Invasive Prenatal Diagnosis of monogenic diseases

In this project, the Hubrecht Institute, pioneering new methods for NIPD, and Cergentis B.V., a Dutch biotech company offering solutions for targeted gene sequencing, will join forces to develop an efficient NIPD method for monogenic diseases that can be implemented in the clinic. Enabling prenatal diagnosis based on a simple blood test is much desired by pregnant couples carrying severe monogenic diseases, as this currently still relies on invasive testing methods that carry a procedure-related risk of miscarriage.

Monogenic diseases such as Duchenne, cystic fibrosis and thalassemia are typically the consequence of very subtle genetic changes. Identifying in the blood of the pregnant mother whether both parents transmitted their healthy or disease gene is therefore not trivial. The aim is to develop a method that is suitable for NIPD of most of the common monogenic disorders and ready for clinical implementation in the Netherlands.