About our research group/lab
Our research
Our group has contributed significantly to the development and evaluation of genome-wide NIPT, including its incidental findings such as maternal malignancies, and has advocated for the responsible expansion of prenatal screening to include treatable genetic conditions. Their work emphasizes ethical considerations, patient counseling, and the societal impact of prenatal technologies. The team collaborates closely with clinical laboratories, genetic counselors, obstetric care providers and psychologists to ensure that innovations in genetic testing translate into meaningful clinical outcomes.
Our research focuses on improving diagnostic accuracy, reducing turnaround times, and enhancing reproductive decision-making through early and precise detection of chromosomal and monogenic disorders.
Key Publications
Chorionic Villus Sampling for Rapid Confirmation of High-Risk NIPT Results for Trisomy 21, 18, and 13.
Srebniak MI, Weerts M, Joosten M, Drost M, Galjaard RJ, van der Schoot V, van den Born M, Knapen MFCM, Prinsen K, Cornette JMJ, DeKoninck PLJ, Papatsonis D, Spaan J, Dijkman A, de Weerd S, Go ATJI, Diderich KEM, Van Opstal D.Prenat Diagn. 2025 Jul;45(8):988-993. doi: 10.1002/pd.6837. Epub 2025 Jun 17.PMID: 40528522 Free PMC article.
Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell-Free DNA? A Systematic Literature Review.
Valovičová K, Diderich KEM, Bramer WM, Lamballais S, Srebniak MI. Prenat Diagn. 2025 May 24. doi: 10.1002/pd.6822. Online ahead of print.PMID: 40411478.
Confined Placental Mosaicism Detected With Non-Invasive Prenatal Testing: Is There an Association Between Mosaic Ratio and Pregnancy Outcome?
Eggenhuizen GM, Go ATJI, Hoffer MJV, Goedegebuur-Zwalua E, Srebniak MI, Van Opstal D.Prenat Diagn. 2024 Nov;44(12):1462-1469. doi: 10.1002/pd.6680. Epub 2024 Oct 10.PMID: 39389929.
The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies.
Diderich KEM, Bruggenwirth HT, Joosten M, Thurik F, Mijalkovic J, Polak M, Kromosoeto J, Somers-Bolman GM, van den Born M, Drost M, Galjaard RJH, Galjaard S, Hoefsloot LH, Knapen MFCM, van Minkelen R, van der Schoot V, van Slegtenhorst MA, Sleutels F, Stuurman KE, Weerts MJA, Go ATJI, Wilke M, Srebniak MI. Prenat Diagn. 2024 Nov;44(12):1444-1450. doi: 10.1002/pd.6676. Epub 2024 Sep 30.PMID: 39349395.
Implementing non-invasive prenatal testing in a national screening program: Lessons learned from the TRIDENT studies.
Skojo M, Srebniak MI, Henneman L, Sistermans EA, van der Meij KRM. Best Pract Res Clin Obstet Gynaecol. 2024 Dec;97:102543. doi: 10.1016/j.bpobgyn.2024.102543. Epub 2024 Sep 3.PMID: 39243520 Free article.
Confined placental mosaicism: Distribution of chromosomally abnormal cells over the term placenta.
Eggenhuizen GM, van Veen S, van Koetsveld N, Go ATJI, Diderich KEM, Joosten M, van den Born M, Srebniak MI, Van Opstal D.Placenta. 2024 Sep 2;154:60-65. doi: 10.1016/j.placenta.2024.06.008. Epub 2024 Jun 15.PMID: 38901306 Free article.
Is Nuchal Translucency of 3.0-3.4 mm an Indication for cfDNA Testing or Microarray? - A Multicenter Retrospective Clinical Cohort Study.
Rybak-Krzyszkowska M, Madetko-Talowska A, Szewczyk K, Bik-Multanowski M, Sakowicz A, Stejskal D, Trková M, Smetanová D, Serafim S, Correia H, Nevado J, Angeles Mori M, Mansilla E, Rutkowska L, Kucińska A, Gach A, Huras H, Kołak M, Srebniak MI. Fetal Diagn Ther. 2024;51(5):453-462. doi: 10.1159/000539463. Epub 2024 May 31.PMID: 38815555 Free PMC article.
The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta-analysis.
Reilly K, Sonner S, McCay N, Rolnik DL, Casey F, Seale AN, Watson CJ, Kan A, Lai THT, Chung BHY, Diderich KEM, Srebniak MI, Dempsey E, Drury S, Giordano J, Wapner R, Kilby MD, Chitty LS, Mone F.Prenat Diagn. 2024 Jun;44(6-7):821-831. doi: 10.1002/pd.6581. Epub 2024 May 6.PMID: 38708840.
The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis.
Diderich KEM, Klapwijk JE, van der Schoot V, van den Born M, Wilke M, Joosten M, Stuurman KE, Hoefsloot LH, Van Opstal D, Brüggenwirth HT, Srebniak MI. Eur J Med Genet. 2023 Oct;66(10):104844. doi: 10.1016/j.ejmg.2023.104844. Epub 2023 Sep 13.PMID: 37709011.
For the updated list of publications see also: Srebniak M - Search Results - PubMed
Collaborations
Collaboration within Erasmus MC
- Department of Obstetrics and Gynecology.
Collaboration outside of Erasmus MC
- Department of Gynecology, Amphia Hospital, Breda, the Netherlands.
- Department of Obstetrics and Gynecology, Reinier de Graaf Gasthuis, Delft, the Netherlands.
- Department of Obstetrics and Gynecology, Albert Schweitzer Hospital, Dordrecht, the Netherlands.
- Department of Psychology, Education & Child Studies (DPECS), Erasmus University Rotterdam, Rotterdam, The Netherlands.
Our team
Prenatal team of Laboratory specialists:
- Diane Van Opstal.
- Mark Drost.
- Hennie T. Bruggenwirth.
- Martina Wilke.
Prenatal team of Genetic counselors:
- Karin Diderich.
- Marieke Joosten.
- Vyne van der Schoot.
- Myrthe van den Born.
- Robert-Jan H. Galjaard.
- Kyra E. Stuurman.
An associate professor to the Department of Psychology, Education and Child Studies:
- Marike Polak.
Gyneacologists:
- Attie T. J. I. Go.
- Maarten F. C. M. Knapen.
- Sander Galjaard.
- Krista Prinsen.
- Jérôme M.J. Cornette.
- Philip DeKoninck.
- Sabina de Weerd.
- Anneke Dijkman.
- Dimitri Papatsonis.
- Annemarie Mulders.
Students:
- Kristina Valovicova, PhD student.
- Matea Skojo.
