Prenatal sonographic features can accurately determine parental origin in triploid pregnancies

Autor: Elisabeth van Leeuwen, Karin Huijsdens, Alida C. Knegt, Emily Kleinrouweler, Melanie Engels, Judith Horenblas, Malou A. Lugthart, Eva Pajkrt

Publikováno v: Prenatal Diagnosis, 40(6), 705-714. John Wiley and Sons Ltd
Lugthart, M A, Horenblas, J, Kleinrouweler, E C, Engels, M, Knegt, A C, Huijsdens, K, van Leeuwen, E & Pajkrt, E 2020, ' Prenatal sonographic features can accurately determine parental origin in triploid pregnancies ', Prenatal Diagnosis, vol. 40, no. 6, pp. 705-714 . https://doi.org/10.1002/pd.5666
Prenatal diagnosis, 40(6), 705-714. John Wiley and Sons Ltd
Prenatal Diagnosis

Objective: To describe the prenatal sonographic features and maternal biochemical markers in triploid pregnancies and to assess whether prenatal phenotype can determine genetic origin. Methods: We performed a retrospective multicenter cohort study th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f04f3f8f52367ac3e65b1b031370adbb
https://doi.org/10.1002/pd.5666

Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results

Autor: Karin Huijsdens-van Amsterdam, Dominique Smeets, Erik A. Sistermans, Diane Van Opstal, Alida C. Knegt, Merel C. van Maarle, Roy Straver, Frank Sleutels

Publikováno v: Genetics in Medicine, 20(11), 1472-1476. Lippincott Williams & Wilkins
Genetics in Medicine, 20(11), 1472-1476. Lippincott Williams and Wilkins
Genetics in Medicine, 20, 1472-1476
Genetics in medicine, 20(11), 1472-1476. Lippincott Williams and Wilkins
Huijsdens–van Amsterdam, K, Straver, R, van Maarle, M C, Knegt, A C, Van Opstal, D, Sleutels, F, Smeets, D & Sistermans, E A 2018, ' Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results ', Genetics in Medicine, vol. 20, no. 11, pp. 1472-1476 . https://doi.org/10.1038/gim.2018.32
Genetics in Medicine, 20, 11, pp. 1472-1476
Genetics in Medicine, 20(11), 1472. Lippincott Williams and Wilkins

Purpose: Using genome-wide noninvasive prenatal screening (NIPS), we detected a 20-megabase specific deletion starting at 10q25 in eight pregnancies. The deletion could not be confirmed by invasive testing. Since all 10(q25→qter) deletions started

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39748fda702e81b201a1fc48f8fd1bde
https://pure.eur.nl/en/publications/35396cef-db1f-4219-9d3b-91422c78bb4b

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome

Autor: Alida C. Knegt, Naseebullah Kakar, Éva Oláh, Katalin Szakszon, Guntram Borck, Carmelo Salpietro, Bruno Dallapiccola

Publikováno v: American journal of medical genetics. Part A, 161A(4), 884-888. Wiley-Liss Inc.

The Say-Barber/Biesecker/Young-Simpson (SBBYS) type of the blepharophimosis-mental retardation syndrome group (Ohdo-like syndromes) is a multiple congenital malformation syndrome characterized by vertical narrowing and shortening of the palpebral fis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93fcdf7414485257629ac6dad7bc7860
https://doi.org/10.1002/ajmg.a.35848

Prenatal diagnosis in the Netherlands, 1991–2000: number of invasive procedures, indications, abnormal results and terminations of pregnancy

Autor: Frank P.H.A. Vandenbussche, Hélène T. C. Nagel, Alida C. Knegt, Nico J. Leschot, Hajo I. J. Wildschut, M. D. Kloosterman

Publikováno v: Prenatal diagnosis, 27(3), 251-257. John Wiley and Sons Ltd
Prenatal Diagnosis, 27(3), 251-257. John Wiley & Sons Ltd.

Objective To provide an overview of invasive prenatal diagnosis in the Netherlands and to analyse trends. Methods Annual results from all centres for invasive prenatal diagnosis in the Netherlands over the period 1991–2000 were combined and describ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::add03d03d7703a2bcfd547729f5add41
https://doi.org/10.1002/pd.1659

Prenatal diagnosis of a karyotypically normal pregnancy in a mother with a supernumerary neocentric 13q21 ? 13q22 chromosome and balancing reciprocal deletion

Autor: Alida C. Knegt, E. K. Bijlsma, P. E. Warburton, John J.M. Engelen, S. Li

Publikováno v: Prenatal diagnosis, 23(3), 215-220. John Wiley and Sons Ltd

An adult female patient with a history of miscarriages was found to be carrying a stable supernumerary chromosome. The patient also carried a reciprocal paracentric deletion in chromosome 13q21/22. Microdissection and reverse fluorescence in situ hyb

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::606e1d365b278d69049da714e2a56958
https://doi.org/10.1002/pd.559