Non-invasive prenatal testing for monogenic disorders: a targeted approach

Soulliaert Brecht, 2022
Currently, the NIPT has been successfully implemented in routine practice for prenatal detection of genetic disorders, such as down syndrome, via a simple blood test. Therefore, small fragments of DNA from the unborn child, so called cell-free DNA, present in the maternal blood are investigated. However, an important group of serious monogenic disorders will be missed by this test. In this research, an optimized blood test was developed to detect this important group of diseases in unborn babies without the risks associated with invasive tests like amniocentesis. The optimized method was able to detect small genetic variations, so called single nucleotide variants, in the cell-free DNA with high accuracy. Similar to the NIPT, detecting big genetic variants, this noninvasive prenatal diagnosis of monogenic disorders (NIPD-M), could further improve prenatal care by detecting these DNA variants in an early stage of pregnancy. This would enable early intervention and anticipation for both curable and uncurable diseases and can give piece of mind to expectant couples. Still, some ethical considerations about genetic testing along with a method to efficiently inform people taking this test should be put in place. Also, as for NIPT, reimbursement will play a pivotal role in making this valuable test available for everyone. In conclusion, the developed method can greatly improve prenatal care by providing vital information about the health of an unborn fetus. To successfully implement NIPD-M, a wide availability of this test and an appropriate ethical and economic framework will be key.

Promotor Bjorn Menten
Opleiding Biomedische Wetenschappen
Domein Medical Genetics