Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan

por Srebniak, Malgorzata Ilona, Knapen, Maarten F. C. M., Joosten, Marieke, Diderich, Karin E. M., Galjaard, Sander, Van Opstal, Diane
Publicado 2021

Ethnicity and Language Proficiency Differences in the Provision of and Intention to Use Prenatal Screening for Down’s Syndrome and Congenital Anomalies. A Prospective, Non-selected...

por Peters, Ingrid A., Heetkamp, Kirsten M., Ursem, Nicolette T. C., Steegers, Eric A. P., Denktaş, Semiha, Knapen, Maarten F. C. M.
Publicado 2017

Is it feasible to select fetuses for prenatal WES based on the prenatal phenotype?

por Diderich, Karin, Joosten, Marieke, Govaerts, Lutgarde, Van Opstal, Diane, Go, Attie, Knapen, Maarten, Galjaard, Robert‐Jan, Hoefsloot, Lies, Srebniak, Malgorzata
Publicado 2019

Nuchal translucency of 3.0‐3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review

por Petersen, Olav B., Smith, Eric, Van Opstal, Diane, Polak, Marike, Knapen, Maarten F. C. M., Diderich, Karin E. M., Bilardo, Caterina M., Arends, Lidia R., Vogel, Ida, Srebniak, Malgorzata I.
Publicado 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 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

Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?

por Srebniak, Malgorzata I., van Zutven, Laura J. C. M., Petit, Florence, Bouquillon, Sonia, van Heel, Ilse P. J., Knapen, Maarten F. C. M., Cornette, Jerome M. J., Kremer, Andreas, Van Opstal, Diane, Diderich, Karin E. M.
Publicado 2016

Factors associated with poor outcome in fetuses prenatally diagnosed with sacrococcygeal teratoma

por van Heurn, Lieke J., Coumans, Audrey B. C., Derikx, Joep P. M., Bekker, Mireille N., Bilardo, Katia M., Duin, Leonie K., Knapen, Maarten F. C. M., Pajkrt, Eva, Sikkel, Esther, van Heurn, L. W. Ernest, Oepkes, Dick
Publicado 2021

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

What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping...

por van Zutven, Laura J. C. M., Mijalkovic, Jona, van Veghel-Plandsoen, Monique, Goense, Margaret, Polak, Marike, Knapen, Maarten F. C. M., de Weerd, Sabina, Joosten, Marieke, Diderich, Karin E. M., Hoefsloot, Lies H., Van Opstal, Diane, Srebniak, Malgorzata I.
Publicado 2023

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

Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast

por Van Opstal, Diane, Eggenhuizen, Geerke M., Joosten, Marieke, Diderich, Karin, Govaerts, Lutgarde, Galjaard, Robert‐Jan, Go, Attie, Knapen, Maarten, Boter, Marjan, Cheung, Wai Y., van Koetsveld, Nicole, van Veen, Stefanie, de Valk, Walter G., Jehee, Fernanda, de Vries, Femke, Hollink, Iris, Hoefsloot, Lies, Srebniak, Malgorzata
Publicado 2020

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

por Reilly, Madeline Louise, Ain, Noor ul, Muurinen, Mari, Tata, Alice, Huber, Céline, Simon, Marleen, Ishaq, Tayyaba, Shaw, Nick, Rusanen, Salla, Pekkinen, Minna, Högler, Wolfgang, Knapen, Maarten F. C. M., van den Born, Myrthe, Saunier, Sophie, Naz, Sadaf, Cormier‐Daire, Valérie, Benmerah, Alexandre, Makitie, Outi
Publicado 2022

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

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

por van Bever, Yolande, Brüggenwirth, Hennie T, Wolffenbuttel, Katja P, Dessens, Arianne B, Groenenberg, Irene A L, Knapen, Maarten F C M, De Baere, Elfride, Cools, Martine, van Ravenswaaij-Arts, Conny M A, Sikkema-Raddatz, Birgit, Claahsen-van der Grinten, Hedi, Kempers, Marlies, Rinne, Tuula, Hersmus, Remko, Looijenga, Leendert, Hannema, Sabine E
Publicado 2020

Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

por Van Opstal, Diane, Diderich, Karin E.M., Joosten, Marieke, Govaerts, Lutgarde C.P., Polak, Joke, Boter, Marjan, Saris, Jasper J., Cheung, Wai Yee, van Veen, Stefanie, van de Helm, Robert, Go, Attie T.J.I., Knapen, Maarten F.C.M., Papatsonis, Dimitri N.M., Dijkman, Anneke, de Vries, Femke, Galjaard, Robert‐Jan H., Hoefsloot, Lies H., Srebniak, Malgorzata I.
Publicado 2018

The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

por Diderich, Karin E. M., Romijn, Kathleen, Joosten, Marieke, Govaerts, Lutgarde C. P., Polak, Marike, Bruggenwirth, Hennie T., Wilke, Martina, van Slegtenhorst, Marjon A., van Bever, Yolande, Brooks, Alice S., Mancini, Grazia M. S., van de Laar, Ingrid M. B. H., Kromosoeto, Joan N. R., Knapen, Maarten F. C. M., Go, Attie T. J. I., Van Opstal, Diane, Hoefsloot, Lies H., Galjaard, Robert‐Jan H., Srebniak, Malgorzata I.
Publicado 2020

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

por van Prooyen Schuurman, Lisanne, Sistermans, Erik A., Van Opstal, Diane, Henneman, Lidewij, Bekker, Mireille N., Bax, Caroline J., Pieters, Mijntje J., Bouman, Katelijne, de Munnik, Sonja, den Hollander, Nicolette S., Diderich, Karin E.M., Faas, Brigitte H.W., Feenstra, Ilse, Go, Attie T.J.I., Hoffer, Mariëtte J.V., Joosten, Marieke, Komdeur, Fenne L., Lichtenbelt, Klaske D., Lombardi, Maria P., Polak, Marike G., Jehee, Fernanda S., Schuring-Blom, Heleen, Stevens, Servi J.C., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Meij, Karuna R.M., van Maarle, Merel C., Vernimmen, Vivian, van Zelderen-Bhola, Shama L., van Ravesteyn, Nicolien T., Knapen, Maarten F.C.M., Macville, Merryn V.E., Galjaard, Robert-Jan H.
Publicado 2022

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

por van Prooyen Schuurman, Lisanne, Sistermans, Erik A., Van Opstal, Diane, Henneman, Lidewij, Bekker, Mireille N., Bax, Caroline J., Pieters, Mijntje J., Bouman, Katelijne, de Munnik, Sonja, den Hollander, Nicolette S., Diderich, Karin E.M., Faas, Brigitte H.W., Feenstra, Ilse, Go, Attie T.J.I., Hoffer, Mariëtte J.V., Joosten, Marieke, Komdeur, Fenne L., Lichtenbelt, Klaske D., Lombardi, Maria P., Polak, Marike G., Jehee, Fernanda S., Schuring-Blom, Heleen, Stevens, Servi J.C., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Meij, Karuna R.M., van Maarle, Merel C., Vernimmen, Vivian, van Zelderen-Bhola, Shama L., van Ravesteyn, Nicolien T., Knapen, Maarten F.C.M., Macville, Merryn V.E., Galjaard, Robert-Jan H.
Publicado 2022