Nederlandse labtechnische publicaties:

Srebniak MI, Jehee FS, Joosten M, Boter M, De Valk WG, Van der Helm R, Sistermans EA, Voorhoeve E, Bhola S, Hoffer MJV, Den Hollander N, Macville MVE, Van Opstal D. Non-invasive prenatal diagnosis for translocation carriers—YES please or NO go? Acta Obstet Gynecol Scand. 2021;00:1– 8.

Sistermans EA, Van Opstal D, Bekker MN, Pertile MD.The clinical benefit of genome-wide cfDNA testing cannot be extrapolated from CVS data. Genet Med. 2020 Mar;22(3):657-658. doi: 10.1038/s41436-019-0689-5. Epub 2019 Nov 6.

Hestand MS et al. Fetal fraction evaluation in non-invasive prenatal screening (NIPS). Eur J Hum Genet. 2019;27:198-202.

Van Opstal D, et al Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas? Prenat Diagn. 2018 ;38:911-919.

Huijsdens-van Amsterdam, K., Page-Christiaens, L., Flowers, N. et al. Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndromeEur J Hum Genet 26, 1490–1496 (2018).

Huijsdens-van Amsterdam K, et al. Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results. Genet Med. 2018;20:1472-1476.

Hochstenbach R, et al Discordant NIPT result in a viable trisomy-21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy-14 cotwin. Clinical Case Reports. 7 March 2018

van Beek DM, et al.. Comparing methods for fetal fraction determination and quality control of NIPT samples. Prenatal Diagnosis 2017;37:769-773.

Van Opstal D, et al. False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review. PLoS One. 2016 Jan 15;11(1):e0146794.

Neveling K, et al. Validation of two-channel sequencing-by-synthesis for noninvasive prenatal testing of fetal whole and partial chromosome aberrations. Prenat Diagn. 2016 Jan 15. doi: 10.1002/pd.4777.

Straver R, et al. Calculating the fetal fraction for noninvasive prenatal testing based on genome-wide nucleosome profiles. Prenat Diagn. 2016;36:614-21.

Van Opstal D, Srebniak MI. Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration. Expert Rev Mol Diagn. 2016 Feb 10.

Tamminga S, et al. Maternal Plasma DNA and RNA Sequencing for Prenatal Testing. Adv Clin Chem 2016;74:63-102.

Sistermans E, et al. Maternal Malignancies Detected With Noninvasive Prenatal Testing. JAMA. 2015 Nov 24;314(20):2192. [reactie op Bianchi et al]

Thurik FF, et al. Analysis of false-positive results of fetal RHD typing in a national screening program reveals vanishing twins as potential cause for discrepancy. Prenat Diagn. 2015;35(8):754-60.

Mersy E, et al. Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination. Clin Chem. 2015 Dec;61(12):1515-23.

van den Oever JM, et al. Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma. Prenat Diagn. 2015;35:945-9.

Hochstenbach R, et al Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18. Case Rep Genet. 2015;2015:926545.

Hochstenbach R et al. Cell-free fetal DNA in the maternal circulation originates from the cytotrophoblast: proof from an unique case. Clin Case Rep. 2015 Jun;3(6):489-91

Straver R et al. Introducing WISECONDOR for noninvasive prenatal diagnostics.
Expert Rev Mol Diagn. 2014 Jun;14(5):513-5

Thung DT et al. Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories. Expert Rev Mol Diagn. 2015 Jan;15(1):111-24

Buysse K et al. Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24hours after venipuncture. Clin Biochem. 2013 Aug 8

Oever van den J et al. Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma. Prenat Diagn. 2015 Oct;35(10):945-9.

Oever van den J et al. Successful noninvasive trisomy 18 detection using single molecule sequencing. Clin Chem. 2013 Apr;59(4):705-9

Norton ME et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. AJOG June 2012. [Epub ahead of print]

Oever van den JM et al. Single Molecule Sequencing of Free DNA from Maternal Plasma for Noninvasive Trisomy 21 Detection. Clin Chem. 2012 Jan 25. [Epub ahead of print]

Faas BH et al. Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells. Expert Opin Biol Ther. 2012 Apr 16. [Epub ahead of print]

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