M.I. (Gosia) SrebniakView profile
Researcher
Gosia Srebniak is a researcher at Erasmus MC, affiliated with the Department of Clinical Genetics within the Erasmus School of Medicine. Her work focuses on advancing prenatal genetic diagnostics through non-invasive methods and large-scale genomic analysis. Her primary research interests include Non-Invasive Prenatal Testing (NIPT) , exome sequencing , cell-free DNA analysis , mosaicism , and chromosomal aberrations . She plays a key role in evaluating and implementing national prenatal screening programs, particularly through the TRIDENT studies, aiming to improve diagnostic accuracy and clinical decision-making. The recent publications highlight a strong trend in prenatal genetic screening , diagnostic yield optimization , and clinical translation of genomic technologies . Her research bridges molecular genetics with obstetric practice, contributing to evidence-based guidelines in prenatal care. Scientific Contributions: Key contributor to national NIPT implementation studies Research on confined placental mosaicism and pregnancy outcomes High-impact studies on prenatal exome sequencing in fetuses with anomalies Investigations into nuchal translucency thresholds and genetic testing Exploration of cfDNA testing in pregnancy-associated cancer Dr. Srebniak collaborates extensively across multicenter consortia and has contributed to over 70 research outputs. While formal advising roles are not mentioned, her work supports clinical training and policy development in prenatal genetics. She is involved in large cohort studies and national health initiatives, reflecting significant grant-supported research activity. She is part of active research networks in clinical genetics and prenatal diagnosis, contributing to both Dutch and international collaborations in genetic screening and fetal medicine.





