Why NIPT should be publicly funded

Por Bunnik, Eline Maria, Kater-Kuipers, Adriana, Galjaard, Robert-Jan H, de Beaufort, Inez
Publicado no J Med Ethics (2020)

Should pregnant women be charged for non-invasive prenatal screening? Implications for reproductive autonomy and equal access

Por Bunnik, Eline M, Kater-Kuipers, Adriana, Galjaard, Robert-Jan H, de Beaufort, Inez D
Publicado no J Med Ethics (2020)

Rethinking counselling in prenatal screening: An ethical analysis of informed consent in the context of non‐invasive prenatal testing (NIPT)

Por Kater‐Kuipers, Adriana, de Beaufort, Inez D., Galjaard, Robert‐Jan H., Bunnik, Eline M.
Publicado no Bioethics (2020)

Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis

Por Van Opstal, Diane, Boter, Marjan, Noomen, Petra, Srebniak, Malgorzata, Hamers, Guus, Galjaard, Robert-Jan H
Publicado em 2011

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow

Por Srebniak, Malgorzata, Boter, Marjan, Oudesluijs, Grétel, Joosten, Marieke, Govaerts, Lutgarde, Van Opstal, Diane, Galjaard, Robert-Jan H
Publicado em 2011

Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes

Por Potuijt, Jacob W P, Hoogeboom, Jeannette, de Graaff, Esther, van Nieuwenhoven, Christianne A, Galjaard, Robert Jan H
Publicado no J Med Genet (2020)

Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification

Por Srebniak, Malgorzata I, Diderich, Karin EM, Govaerts, Lutgarde CP, Joosten, Marieke, Riedijk, Sam, Galjaard, Robert Jan H, Van Opstal, Diane
Publicado em 2014

Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect

Por Srebniak, Malgorzata I, Boter, Marjan, Verboven-Peerden, Carla MA, Looye-Bruinsma, Gerda AG, Oudesluijs, Gretel, Galjaard, Robert-Jan H, Van Opstal, Diane
Publicado em 2011

Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?

Por Baas, Martijn, Potuijt, Jacob W.P., Hovius, Steven E.R., Hoogeboom, A. Jeannette M., Galjaard, Robert‐Jan H., van Nieuwenhoven, Christianne A.
Publicado no Am J Med Genet A (2017)

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples

Por Van Opstal, Diane, Boter, Marjan, de Jong, Danielle, van den Berg, Cardi, Brüggenwirth, Hennie T, Wildschut, Hajo I J, de Klein, Annelies, Galjaard, Robert-Jan H
Publicado em 2009

Offering a choice between NIPT and invasive PND in prenatal genetic counseling: the impact of clinician characteristics on patients’ test uptake

Por van der Steen, Sanne L., Houtman, Diewertje, Bakkeren, Iris M., Galjaard, Robert-Jan H., Polak, Marike G., Busschbach, Jan J., Tibben, Aad, Riedijk, Sam R.
Publicado no Eur J Hum Genet (2018)

A multidisciplinary review of triphalangeal thumb

Por Potuijt, Jacob W. P., Galjaard, Robert-Jan H., van der Spek, Peter J., van Nieuwenhoven, Christianne A., Ahituv, Nadav, Oberg, Kerby C., Hovius, Steven E. R.
Publicado no J Hand Surg Eur Vol (2018)

Implementing non‐invasive prenatal testing (NIPT) in the Netherlands: An interview study exploring opinions about and experiences with societal pressure, reimbursement, and an expa...

Por Bakkeren, Iris M., Kater‐Kuipers, Adriana, Bunnik, Eline M., Go, Attie T. J. I., Tibben, Aad, de Beaufort, Inez D., Galjaard, Robert‐Jan H., Riedijk, Sam R.
Publicado no J Genet Couns (2019)

Non-invasive prenatal testing (NIPT): societal pressure or freedom of choice? A vignette study of Dutch citizens’ attitudes

Por Kater-Kuipers, Adriana, Bakkeren, Iris M., Riedijk, Sam R., Go, Attie T.J.I., Polak, Marike G., Galjaard, Robert-Jan H., de Beaufort, Inez D., Bunnik, Eline M.
Publicado no Eur J Hum Genet (2020)

The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing

Por Riedijk, Sam, Diderich, Karin E. M., van der Steen, Sanne L., Govaerts, Lutgarde C. P., Joosten, Marieke, Knapen, Maarten F. C. M., de Vries, Femke A. T., van Opstal, Diane, Tibben, Aad, Galjaard, Robert-Jan H.
Publicado no J Clin Med (2014)

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities

Por Srebniak, Malgorzata I, Boter, Marjan, Oudesluijs, Gretel O, Cohen-Overbeek, Titia, Govaerts, Lutgarde CP, Diderich, Karin EM, Oegema, Renske, Knapen, Maarten FCM, van de Laar, Ingrid MBH, Joosten, Marieke, Van Opstal, Diane, Galjaard, Robert-Jan H
Publicado em 2012

Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs

Por Srebniak, Malgorzata I, Diderich, Karin EM, Joosten, Marieke, Govaerts, Lutgarde CP, Knijnenburg, Jeroen, de Vries, Femke AT, Boter, Marjan, Lont, Debora, Knapen, Maarten FCM, de Wit, Merel C, Go, Attie TJI, Galjaard, Robert-Jan H, Van Opstal, Diane
Publicado no Eur J Hum Genet (2016)

False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review

Por Van Opstal, Diane, Srebniak, Malgorzata I., Polak, Joke, de Vries, Femke, Govaerts, Lutgarde C. P., Joosten, Marieke, Go, Attie T. J. I., Knapen, Maarten F. C. M., van den Berg, Cardi, Diderich, Karin E. M., Galjaard, Robert-Jan H.
Publicado no PLoS One (2016)

Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT

Por Srebniak, Malgorzata I., de Wit, Merel C., Diderich, Karin E. M., Govaerts, Lutgarde C. P., Joosten, Marieke, Knapen, Maarten F. C. M., Bos, Marnix J., Looye-Bruinsma, Gerda A. G., Koningen, Mieke, Go, Attie T. J. I., Galjaard, Robert Jan H., Van Opstal, Diane
Publicado no Mol Cytogenet (2016)

Social and medical need for whole genome high resolution NIPT

Por Srebniak, Malgorzata I., Knapen, Maarten F. C. M., Govaerts, Lutgarde C. P., Polak, Marike, Joosten, Marieke, Diderich, Karin E. M., van Zutven, Laura J. C. M., Prinsen, Krista A. K. E., Riedijk, Sam, Go, Attie T. J. I., Galjaard, Robert‐Jan H., Hoefsloot, Lies H., Van Opstal, Diane
Publicado no Mol Genet Genomic Med (2019)