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Dr. K. Huijsdens-van Amsterdam
Laboratoriumspecialist klinische genetica
Aandachtsgebieden uitklapper, klik om te openen
(Moleculaire) cytogenetica, pre- en postnatale diagnostiek
Afdeling/polikliniek
Genoomdiagnostiek, afdeling Genetica
Lid van:
- Nederlandse Vereniging voor Humane Genetica (NVHG)
- Vereniging voor Klinisch Genetisch Laboratorium Specialisten (VKGL)
Participeert in:
- Landelijk Overleg Genoomdiagnostiek, cytogenetica (werkgroep CGD; secretaris)
- Werkgroep prenatale diagnostiek en foetale therapie (WPDT)
- Landelijk overleg preconceptie screening
Wetenschappelijk onderzoek en publicaties uitklapper, klik om te openen
Onderzoek in het kader van de implementatie van nieuwe technieken binnen de pre- en postnatale diagnostiek.
Publicaties
- Comparing methods for fetal fraction determination and quality control of NIPT samples. Prenat Diagn. 2017 Aug; 37(8):769-73.
- Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part I - Clinical Impact. Prenat Diagn. 2016 Dec;36(12):1083-90.
- Trisomy 4 mosaicism: Delineation of the phenotype. Am J Med Genet A. 2016 170A(4):1040-5.
- Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism. Mol Cytogenet. 2012 Jan 27;5(1):8.
- Economic evaluation of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis: a cost-minimization analysis. Arch Gynecol Obstet. 2012 Jan; 285(1): 67-75.
- Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study. BMC Pregnancy Childbirth. 2008 May 20;8:18. doi: 10.1186/1471-2393-8-18.
- Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome. Eur J Hum Genet. 2018. Oct;26(10):1490-1496. PMID: 29899373
- Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results. Genet Med. 2018 Nov;20(11):1472-1476.PMID:29493577
- Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study. Genet Med. 2018 Apr;20(5):480-485.PMID:29121006
- Response to letter to the editor PD-17-0390, a comment on "Comparing methods for fetal fraction determination and quality control of NIPT samples". Prenat Diagn. 2017 Dec;37(12):1266-1267. PMID:29271028