Marieke Joosten

Dr. Marieke Joosten is a researcher in the Department of Clinical Genetics at Erasmus MC, a leading academic medical center in the Netherlands. Her work is centered on clinical and molecular genetics, with a strong focus on prenatal diagnostics and genomic technologies.

Her research interests include:

• Exome sequencing in prenatal diagnosis
• Cell-free DNA analysis
• Chromosomal aberrations and mosaicism
• Karyotyping
• Genetic counseling

Her recent publications highlight a consistent focus on improving diagnostic accuracy in prenatal settings, particularly through advanced genomic techniques. She frequently collaborates with multidisciplinary teams on studies involving prenatal exome sequencing, non-invasive prenatal testing (NIPT), and the detection of maternal malignancies through fetal screening. Her work bridges clinical practice and genetic research, contributing significantly to patient management protocols.

Notable scientific contributions include research on confined placental mosaicism, high-yield prenatal exome sequencing, and clinical guidelines for managing abnormal NIPT results suggestive of maternal cancer. These have been published in top journals such as The Journal of Experimental Medicine, Prenatal Diagnosis, and The Lancet Regional Health - Europe.

She actively contributes to public engagement through press coverage of her research and is part of the Dutch NIPT Consortium, reflecting her role in national collaborative efforts. While no formal advising or grant information is provided, her extensive publication record and media presence underscore her active and influential role in clinical genetics research.