Why NIPT should be publicly funded

por Bunnik, Eline Maria, Kater-Kuipers, Adriana, Galjaard, Robert-Jan H, de Beaufort, Inez
Publicado 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 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 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 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 2020

Non‐invasive prenatal test uptake in socioeconomically disadvantaged neighborhoods

por van der Meij, Karuna R. M., Kooij, Caroline, Bekker, Mireille N., Galjaard, Robert‐Jan H., Henneman, Lidewij
Publicado 2021

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 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 2017

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes

por Baas, Martijn, Burger, Elise Bette, van den Ouweland, Ans MW, Hovius, Steven ER, de Klein, Annelies, van Nieuwenhoven, Christianne A, Galjaard, Robert Jan H
Publicado 2021

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 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 2019

Informed choice and routinization of the second-trimester anomaly scan: a national cohort study in the Netherlands

por Lust, Eline E.R., Bronsgeest, Kim, Henneman, Lidewij, Crombag, Neeltje, Bilardo, Caterina M., van Vliet-Lachotzki, Elsbeth H., Galjaard, Robert-Jan H., Sikkel, Esther, Haak, Monique C., Bekker, Mireille N.
Publicado 2023

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 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 2012

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 2016

Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program

por van der Meij, Karuna R. M., van de Pol, Qiu Ying. F., Bekker, Mireille N., Martin, Linda, Gitsels-van der Wal, Janneke, van Vliet-Lachotzki, Elsbeth H., Weiss, Janneke M., Galjaard, Robert-Jan H., Sistermans, Erik A., Macville, Merryn V. E., Henneman, Lidewij
Publicado 2022

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 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 2019

Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives

por van der Meij, Karuna R. M., Njio, Annabel, Martin, Linda, Gitsels-van der Wal, Janneke T., Bekker, Mireille N., van Vliet-Lachotzki, Elsbeth H., van der Ven, A. Jeanine E. M., Kater-Kuipers, Adriana, Timmermans, Danielle R. M., Sistermans, Erik A., Galjaard, Robert-Jan H., Henneman, Lidewij
Publicado 2021

Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study

por Boormans, Elisabeth MA, Birnie, Erwin, Wildschut, Hajo I, Schuring-Blom, Heleen G, Oepkes, Dick, van Oppen, Carla AC, Nijhuis, Jan G, Macville, Merryn VE, Kooper, Angelique JA, Huijsdens, Karin, Hoffer, Mariëtte VJ, Go, Attie, Creemers, Johan, Bhola, Shama L, Bilardo, Katia M, Suijkerbuijk, Ron, Bouman, Katelijne, Galjaard, Robert-Jan H, Bonsel, Gouke J, van Lith, Jan MM
Publicado 2008