NIPD-CF
Non-invasive prenatal diagnosis for early detection of severe monogenic diseases like Cystic
Fibrosis
Wouter de Laat, UMCU
Karin de Winter, UMCU
GenDx
For couples who have a higher chance of passing on a genetic disease such as Cystic Fibrosis (CF) of Primary Ciliary Dyskinesia (PCD), prenatal diagnosis can help them make informed decisions about their pregnancy and prepare for the birth of their child.
Currently, prenatal diagnosis requires an invasive procedure. This involves taking a sample during pregnancy and carries a small risk of miscarriage. It can usually only be performed from around week 11 of pregnancy.
This project aims to develop a safer, simpler and earlier blood test for prenatal diagnosis. The test, known as non-invasive prenatal diagnosis (NIPD), uses DNA from the pregnant woman and the fetus found in a blood sample. it could potentially be performed as early as weeks 8-10 of pregnancy, without the need for an invasive procedure.
The project brings together the Departments of Genetics and Pediatric Pulmonology at UMC Utrecht and biotech company GenDx. Together, they will develop a general method that can detect a wide range of genetic diseases from a blood sample.
The method will be tested in 100 pregnant couples with an increased risk of passing on a genetic disease. The ultimate goal is to make prenatal diagnosis safer and available earlier, while supporting timely medical care and giving parents greater reassurance during pregnancy.
