Abnormal karyotype in the chorion, not confirmed in a subsequently aborted fetus

Autor: A. Boogert, A. S. P. M. Breed, A. Mantingh, R. Laurini, G. J. P. A. Anders, Govaerts Lc

Publikováno v: Prenatal Diagnosis, 6(5), 375-377. Wiley-Blackwell

An abnormal fetal karyotype, containing a del 16(q21-qter) as an extra chromosome, was diagnosed in all 14 metaphases examined in a sample of chorionic villous biopsy material. After elective abortion a mosaicism for this cell-line together with a no

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b65bbf9fdc665f018d45032e7583cfc
https://pubmed.ncbi.nlm.nih.gov/3774766

[What if the sperm donor has a hereditary disease? Informed consent needed for sharing medical information].

Autor: van der Smagt JJ; UMC Utrecht, afd. Medische Genetica, Utrecht., Govaerts LC, Frints SGM

Publikováno v: Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 2017; Vol. 161, pp. D1445.

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

Autor: Srebniak MI; Department of Clinical Genetics, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands., de Wit MC; Department of Obstetrics and Gynecology, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands., Diderich KE; Department of Clinical Genetics, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands., Govaerts LC; Department of Clinical Genetics, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands., Joosten M; Department of Clinical Genetics, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands., Knapen MF; Department of Obstetrics and Gynecology, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands ; Foundation Prenatal Screening Southwest region of The Netherlands, Wytemaweg 80, Na-1509, 3015 CN Rotterdam, The Netherlands., Bos MJ; Department of Clinical Genetics, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands., Looye-Bruinsma GA; Department of Clinical Genetics, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands., Koningen M; Department of Clinical Genetics, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands., Go AT; Department of Obstetrics and Gynecology, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands., Galjaard RJ; Department of Clinical Genetics, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands., Van Opstal D; Department of Clinical Genetics, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands.

Publikováno v: Molecular cytogenetics [Mol Cytogenet] 2016 Sep 07; Vol. 9 (1), pp. 69. Date of Electronic Publication: 2016 Sep 07 (Print Publication: 2016).

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

Autor: Srebniak MI; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Diderich KE; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Joosten M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Govaerts LC; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Knijnenburg J; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., de Vries FA; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Boter M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Lont D; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Knapen MF; Department of Obstetrics and Gynecology, Erasmus Medical Center, Rotterdam, The Netherlands.; Foundation Prenatal Screening Southwest region of the Netherlands, Rotterdam, The Netherlands., de Wit MC; Department of Obstetrics and Gynecology, Erasmus Medical Center, Rotterdam, The Netherlands., Go AT; Department of Obstetrics and Gynecology, Erasmus Medical Center, Rotterdam, The Netherlands., Galjaard RJ; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Van Opstal D; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2016 May; Vol. 24 (5), pp. 645-51. Date of Electronic Publication: 2015 Sep 02.

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

Autor: Van Opstal D; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Srebniak MI; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Polak J; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., de Vries F; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Govaerts LC; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Joosten M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Go AT; Department of obstetrics and prenatal medicine, Erasmus Medical Center, Rotterdam, the Netherlands., Knapen MF; Department of obstetrics and prenatal medicine, Erasmus Medical Center, Rotterdam, the Netherlands.; Stichting Prenatale Screening Zuidwest Nederland, Wytemaweg 80, 3015 CN, Rotterdam, the Netherlands., van den Berg C; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Diderich KE; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Galjaard RJ; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.

Publikováno v: PloS one [PLoS One] 2016 Jan 15; Vol. 11 (1), pp. e0146794. Date of Electronic Publication: 2016 Jan 15 (Print Publication: 2016).