Prenatal High Resolution Testing
For a very long time karyotyping was the only whole genome genetic test that was possible in pregnancy. With the recent rapid development and improvement of various techniques such as microarray, WES, WGS, and genetic non-invasive prenatal testing more clinical research became possible. However what is technically available is not always directly clinically possible. Therefore not only a continuous development of techniques is challenging, but also implementation in clinical settings. Our multidisciplinary group covers all aspects of high resolution testing in pregnancy from making rapid testing possible and allowing informed choices to translating the results to patients and supporting decisions.
Preventive Genomics
Why do we believe that advancements in early diagnosis are crucial? Early diagnostics provide the opportunity for timely interventions. This can involve receiving information during pregnancy or even before it, as well as during your life before a disorder symptoms appear. Preventive genomics is essential for creating therapies before tissue damage occurs and before a lengthy diagnostic journey reveals your condition. It's a bold step towards a healthier future.Did you know that if indicated, you can perform preconception carrier screening at our center?
NIPT for monogenic disorders
Non-Invasive Prenatal Testing (NIPT) is currently used to screen pregnancies for specific chromosomal conditions, such as Down syndrome. Advances in genomic technologies have made it technically feasible to expand NIPT to include a wider range of genetic conditions, including selected monogenic disorders. Such an expansion raises important clinical, ethical, societal, and policy questions that require careful consideration before implementation.
Tumor cfDNA
The technological progress is amazing! Did you know that requesting a non-invasive prenatal test you will be able to diagnose malignancy? cfDNA screening and diagnostics is likely to enter the clinical practice and have even more impact on the health monitoring than in prenatal screening. Tumor cytogenomic analysis has always been challenging because of the tumor heterogeneity and difficulties in cell culture. It is important to gain more insights into genomics of tumor cfDNA in patients suffering from cancer disease to be able to improve disease monitoring and screening, so that Preventive Genomics can be used for early cancer prevention in general population.
ORIGAMI
Recurrent miscarriage and fertility issues impact many couples, yet genetic assessments in standard clinical settings in the Netherland until now mainly relied on conventional karyotyping to detect balanced chromosomal rearrangements. Recent advancements in genomic technologies present opportunities to enhance diagnostic processes and enhance our understanding of how genetics influences reproduction management. This project explores the benefits of cell-free DNA (cfDNA) analysis and whole genome sequencing for couples experiencing recurrent miscarriage and fertility problems. The study seeks to determine the genetic information needed for couples to navigate their situation, identify clinically relevant genetic variants, uncover new genes linked to reproductive failure, and assess how molecular insights can improve diagnostic accuracy, clinical management, reproductive counseling, future care strategies and couples well-being.