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

Comparable Low-Level Mosaicism in Affected and Non Affected Tissue of a Complex CDH Patient

por Veenma, Danielle, Beurskens, Niels, Douben, Hannie, Eussen, Bert, Noomen, Petra, Govaerts, Lutgarde, Grijseels, Els, Lequin, Maarten, de Krijger, Ronald, Tibboel, Dick, de Klein, Annelies, Van Opstal, Dian
Publicado 2010

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

How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies

por Klapwijk, Jasmijn E., Srebniak, Malgorzata I., Go, Attie T. J. I., Govaerts, Lutgarde C. P., Lewis, Celine, Hammond, Jennifer, Hill, Melissa, Lou, Stina, Vogel, Ida, Ormond, Kelly E., Diderich, Karin E. M., Brüggenwirth, Hennie T., Riedijk, Sam R.
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

Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype

por Van Opstal, Diane, van Veen, Stefanie, Joosten, Marieke, Diderich, Karin E.M., Govaerts, Lutgarde C.P., Polak, Joke, van Koetsveld, Nicole, Boter, Marjan, Go, Attie T.J.I., Papatsonis, Dimitri N.M., Prinsen, Krista, Hoefsloot, Lies H., Srebniak, Malgorzata I.
Publicado 2019

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

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

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

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

por Van Opstal, Diane, van Maarle, Merel C, Lichtenbelt, Klaske, Weiss, Marjan M, Schuring-Blom, Heleen, Bhola, Shama L, Hoffer, Mariette J V, Huijsdens-van Amsterdam, Karin, Macville, Merryn V, Kooper, Angelique J A, Faas, Brigitte H W, Govaerts, Lutgarde, Tan-Sindhunata, Gita M, den Hollander, Nicolette, Feenstra, Ilse, Galjaard, Robert-Jan H, Oepkes, Dick, Ghesquiere, Stijn, Brouwer, Rutger W W, Beulen, Lean, Bollen, Sander, Elferink, Martin G, Straver, Roy, Henneman, Lidewij, Page-Christiaens, Godelieve C, Sistermans, Erik A
Publicado 2018