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Karin Diderich

120px x 180px_Karin DiderichKarin Diderich (1975) has been working as a staff member of the Department of Clinical Genetics at Erasmus MC since 2011, with prenatal genetics as the main focus area in patient care as well as in research and education. Karin is closely involved in the expansion of the possibilities of diagnostics for structural abnormalities in pregnancies. An article of a master student she supervised was recently submitted (‘’The potential diagnostic yield of Whole Exome Sequencing in 391 pregnancies complicated by fetal ultrasound anomalies and with normal chromosomal microarray results''). Karin is a lecturer in the medicine curriculum and the Minor Genetics in Society.

Karin studied medicine at the Erasmus University. After her MD, she performed PhD research at the department of Genetics at Erasmus MC. This resulted in a thesis entitled 'Bone aging in DNA repair deficient trichothiodystrophy mice' (2010). She followed her training as a clinical geneticist at Erasmus MC.

She is a member of the national VKGN Quality Committee, the Working Group on Information and Education about Prenatal Screening of the RIVM, the VKGN Working Group on Prenatal Genetics, the Working Group on Prenatal Diagnostics and Therapy (WPDT) and the Working Group on Skeletal Dysplasia.

Selection of publications:

Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas? Van Opstal D, Diderich KEM, Joosten M, Govaerts LCP, Polak J, Boter M, Saris JJ, Cheung WY, van Veen S, van de Helm R, Go ATJI, Knapen MFCM, Papatsonis DNM, Dijkman A, de Vries F, Galjaard RH, Hoefsloot LH, Srebniak MI. Prenat Diagn. 2018 Sep 6.

Choosing between Higher and Lower Resolution Microarrays: do Pregnant Women Have Sufficient Knowledge to Make Informed Choices Consistent with their Attitude? van der Steen SL, Bunnik EM, Polak MG, Diderich KEM, Verhagen-Visser J, Govaerts LCP, Joosten M, Knapen MFCM, Go ATJI, Van Opstal D, Srebniak MI, Galjaard RJH, Tibben A, Riedijk SR. J Genet Couns. 2018 Feb;27(1):85-94.

The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies. Srebniak MI, Knapen MFCM, Polak M, Joosten M, Diderich KEM, Govaerts LCP, Boter M, Kromosoeto JNR, van Hassel DACM, Huijbregts G, van IJcken WFJ, Heydanus R, Dijkman A, Toolenaar T, de Vries FAT, Knijnenburg J, Go ATJI, Galjaard RH, Van Opstal D. Hum Mutat. 2017 Jul;38(7):880-888.

Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases. Govaerts L, Srebniak M, Diderich K, Joosten M, Riedijk S, Knapen M, Go A, Papatsonis D, de Graaf K, Toolenaar T, van der Steen S, Huijbregts G, Knijnenburg J, de Vries F, Van Opstal D, Galjaard RJ.
Prenat Diagn. 2017 Jan;37(1):73-80.

Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT.
Srebniak MI, de Wit MC, Diderich KE, Govaerts LC, Joosten M, Knapen MF, Bos MJ, Looye-Bruinsma GA, Koningen M, Go AT, Galjaard RJ, Van Opstal D. Mol Cytogenet. 2016 Sep 7;9(1):69.

Clinical experience of unexpected findings in prenatal array testing. Joosten M, Diderich KE, Van Opstal D, Govaerts LC, Riedijk SR, Prinsen AK, De Vries FA, Go AT, Galjaard RJ, Srebniak MI. Biomark Med. 2016 Aug;10(8):831-40.

The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents' Experiences. van der Steen SL, Riedijk SR, Verhagen-Visser J, Govaerts LC, Srebniak MI, Van Opstal D, Joosten M, Knapen MF, Tibben A, Diderich KE, Galjaard RJ. J Genet Couns. 2016 Dec;25(6):1227-1234.

False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review. Van Opstal D, Srebniak MI, Polak J, de Vries F, Govaerts LC, Joosten M, Go AT, Knapen MF, van den Berg C, Diderich KE, GaljaardRJ. PLoS One. 2016 Jan 15;11(1):e0146794.
Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs. Srebniak MI, Diderich KE, Joosten M, Govaerts LC, Knijnenburg J, de Vries FA, Boter M, Lont D, Knapen MF, de Wit MC, Go AT, Galjaard RJ, Van Opstal D. Eur J Hum Genet. 2016 May;24(5):645-51.

Is prenatal cytogenetic diagnosis with genomic array indicated in pregnancies at risk for a molecular or metabolic disorder? Srebniak MI, Govaerts LC, Diderich KE, Joosten M, de Vries FA, Galjaard RJ, Van Opstal D. Genet Med. 2016 Apr;18(4):307-8.

Benefits and burdens of using a SNP array in pregnancies at increased risk for the common aneuploidies.
Van Opstal D, de Vries F, Govaerts L, Boter M, Lont D, van Veen S, Joosten M, Diderich K, Galjaard RJ, Srebniak MI. Hum Mutat. 2015 Mar;36(3):319-26.

Whole-genome array as a first-line cytogenetic test in prenatal diagnosis. Srebniak MI, Van Opstal D, Joosten M, Diderich KE, de Vries FA, Riedijk S, Knapen MF, Go AT, Govaerts LC, Galjaard RJ. Ultrasound Obstet Gynecol. 2015 Apr;45(4):363-72.

Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing. van der Steen SL, Diderich KE, Riedijk SR, Verhagen-Visser J, Govaerts LC, Joosten M, Knapen MF, Van Opstal D, Srebniak MI, Tibben A, Galjaard RJ. Clin Genet. 2015 Jul;88(1):25-31.

The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing. Riedijk S, Diderich KE, van der Steen SL, Govaerts LC, Joosten M, Knapen MF, de Vries FA, van Opstal D, Tibben A, Galjaard RJ. J Clin Med. 2014 Jul 3;3(3):713-23.

Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification. Srebniak MI, Diderich KE, Govaerts LC, Joosten M, Riedijk S, Galjaard RJ, Van Opstal D. Eur J Hum Genet. 2014 Jul;22(7):856-8.
Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities. Srebniak MI, Boter M, Oudesluijs GO, Cohen-Overbeek T, Govaerts LC, Diderich KE, Oegema R, Knapen MF, van de Laar IM, Joosten M, Van Opstal D, Galjaard RJ. Mol Cytogenet. 2012 Mar 13;5(1):14.