Dr. K. Huijsdens-van Amsterdam

Aandachtsgebieden

(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

LinkedIn profiel

Wetenschappelijk onderzoek en publicaties

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