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The Journal of Maternal-Fetal & Neonatal Medicine Volume 27, 2014 - Issue 7

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Original Article

How does altering the resolution of chromosomal microarray analysis in the prenatal setting affect the rates of pathological and uncertain findings?

S. C. HillmanSchool of Clinical and Experimental Medicine, College of Medicine and Dentistry, University of Birmingham Edgbaston, BirminghamUK

D. J. McMullanWest Midlands Regional Genetics Laboratories and the Department of Clinical Genetics, Birmingham Women’s Foundation Trust Edgbaston, BirminghamUK

L. SilcockWest Midlands Regional Genetics Laboratories and the Department of Clinical Genetics, Birmingham Women’s Foundation Trust Edgbaston, BirminghamUK

E. R. MaherSchool of Clinical and Experimental Medicine, College of Medicine and Dentistry, University of Birmingham Edgbaston, BirminghamUK;West Midlands Regional Genetics Laboratories and the Department of Clinical Genetics, Birmingham Women’s Foundation Trust Edgbaston, BirminghamUK

M. D. KilbySchool of Clinical and Experimental Medicine, College of Medicine and Dentistry, University of Birmingham Edgbaston, BirminghamUK;Fetal Medicine Centre, Birmingham Women’s Foundation Trust, Edgbaston BirminghamUKCorrespondence[email protected]

Pages 649-657 | Received 08 May 2013, Accepted 12 Jul 2013, Published online: 19 Aug 2013

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https://doi.org/10.3109/14767058.2013.825601
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Anastasios Mitrakos, Konstantina Kosma, Periklis Makrythanasis & Maria Tzetis. (2023) Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?. Genes 14:8, pages 1519.
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Elena Papageorgiou, Apostolos Athanasiadis, Stiliani Fidani, Ioannis Papoulidis, Emmanouil Manolakos, Elissavet Siomou, Christos Chatzakis & Alexandros Sotiriadis. (2023) The Effect of Resolution Level and Targeted Design in the Diagnostic Performance of Prenatal Chromosomal Microarray Analysis. Fetal Diagnosis and Therapy 50:6, pages 397-405.
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Karin E.M. Diderich, Jasmijn E. Klapwijk, Marieke Joosten, Hennie T. Brüggenwirth & Malgorzata I. Srebniak. 2022. Prenatal Genetic Counseling. Prenatal Genetic Counseling 39 67 .

Aubrey Milunsky & Jeff M. MilunskyBrynn Levy. 2021. Genetic Disorders and the Fetus. Genetic Disorders and the Fetus 547 571 .

Hsu P. Chong, Susan Hamilton, Fionnuala Mone, Ka Wang Cheung, Fiona S. Togneri, Rachel K. Morris, Elizabeth Quinlan‐Jones, Denise Williams, Stephanie Allen, Dominic J. McMullan & Mark D. Kilby. (2019) Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases. Prenatal Diagnosis 39:12, pages 1064-1069.
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Hsu Chong, Fionnuala Mone, Dominic McMullan, Eamonn Maher & Mark D. Kilby. 2019. Fetal Therapy. Fetal Therapy 36 47 .

Yael Hashiloni‐Dolev, Tamar Nov‐Klaiman & Aviad Raz. (2019) Pandora's pregnancy: NIPT, CMA, and genome sequencing—A new era for prenatal genetic testing. Prenatal Diagnosis 39:10, pages 859-865.
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H. Daum, A. Ben David, M. Nadjari, S. Zenvirt, S. Helman, N. Yanai, V. Meiner, S. Yagel, A. Frumkin, S. Shkedi Rafid, Shira Silverstein, Avital Eilat, Michal Macarov, Naama Zvi, Adi Szmulewicz, Duha Fahham, Nuphar Hacohen, Adva Kimchi, Avraham Shaag, Michal Gur & Libat Bar‐Or. (2019) Role of late amniocentesis in the era of modern genomic technologies. Ultrasound in Obstetrics & Gynecology 53:5, pages 676-685.
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Brynn Levy & Rachel D. Burnside. (2019) Are all chromosome microarrays the same? What clinicians need to know. Prenatal Diagnosis 39:3, pages 157-164.
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T. Quibel & P. Rozenberg. (2018) Quels sont l’objectif réel et la portée du dépistage des aneuploïdies ?. Gynécologie Obstétrique Fertilité & Sénologie 46:2, pages 124-129.
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Beatrice Oneda & Anita Rauch. (2017) Microarrays in prenatal diagnosis. Best Practice & Research Clinical Obstetrics & Gynaecology 42, pages 53-63.
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Huilin Wang, Matthew Hoi Kin Chau, Ye Cao, Ka Yin Kwok & Kwong Wai Choy. (2017) Chromosome copy number variants in fetuses with syndromic malformations. Birth Defects Research 109:10, pages 725-733.
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L. Pons, M. Till, E. Alix, C. Abel, D. Boggio, A. Bordes, J. Caloone, F.C. Raskin, N. Chatron, M.-P. Cordier, A. Fichez, A. Labalme, C. Lajeunesse, É. Liaras, M. Massoud, J. Miribel, E. Ollagnon, C. Schluth-Bolard, A. Vichier-Cerf, P. Edery, J. Attia, C. Huissoud, R.C. Rudigoz, J. Massardier, P. Gaucherand & D. Sanlaville. (2017) Prenatal microarray comparative genomic hybridization: Experience from the two first years of activity at the Lyon university-hospital. Journal of Gynecology Obstetrics and Human Reproduction 46:3, pages 275-283.
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Stephen C Robson, Lyn S Chitty, Stephen Morris, Talitha Verhoef, Gareth Ambler, Diana G Wellesley, Ruth Graham, Claire Leader, Jane Fisher & John A Crolla. (2017) Evaluation of Array Comparative genomic Hybridisation in prenatal diagnosis of fetal anomalies: a multicentre cohort study with cost analysis and assessment of patient, health professional and commissioner preferences for array comparative genomic hybridisation. Efficacy and Mechanism Evaluation 4:1, pages 1-104.
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Madita Schumann, Andrea Hofmann, Sophia K. Krutzke, Alina C. Hilger, Florian Marsch, Dietlinde Stienen, Ulrich Gembruch, Michael Ludwig, Waltraut M. Merz & Heiko Reutter. (2016) Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs. Journal of Neurodevelopmental Disorders 8:1.
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S. L. van der Steen, S. R. Riedijk, J. Verhagen-Visser, L. C. P. Govaerts, M. I. Srebniak, D. Van Opstal, M. Joosten, M. F. C. M. Knapen, A. Tibben, K. E. M. Diderich & R. J. H. Galjaard. (2016) The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents’ Experiences. Journal of Genetic Counseling 25:6, pages 1227-1234.
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L Hui, EE Muggli & JL Halliday. (2015) Population‐based trends in prenatal screening and diagnosis for aneuploidy: a retrospective analysis of 38 years of state‐wide data. BJOG: An International Journal of Obstetrics & Gynaecology 123:1, pages 90-97.
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S.L. van der Steen, K.E.M. Diderich, S.R. Riedijk, J. Verhagen-Visser, L.C.P. Govaerts, M. Joosten, M.F.C.M. Knapen, D. Van Opstal, M.I. Srebniak, A. Tibben & R.J.H. Galjaard. (2015) Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing. Clinical Genetics 88:1, pages 25-31.
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M. I. Srebniak, D. Van Opstal, M. Joosten, K. E. M. Diderich, F. A. T. de Vries, S. Riedijk, M. F. C. M. Knapen, A. T. J. I. Go, L. C. P. Govaerts & R.-J. H. Galjaard. (2015) Whole-genome array as a first-line cytogenetic test in prenatal diagnosis. Ultrasound in Obstetrics & Gynecology 45:4, pages 363-372.
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Diane Van Opstal, Femke de Vries, Lutgarde Govaerts, Marjan Boter, Debora Lont, Stefanie van Veen, Marieke Joosten, Karin Diderich, Robert-Jan Galjaard & Malgorzata I. Srebniak. (2015) Benefits and Burdens of Using a SNP Array in Pregnancies at Increased Risk for the Common Aneuploidies. Human Mutation 36:3, pages 319-326.
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Valérie Malan, Jean-Michel Lapierre, Matthieu Egloff, Didier Goidin, Marie-Paule Beaujard, Marie-Laure Maurin, Tania Attié-Bitach, Bettina Bessières, Jean-Pierre Bernard, Philippe Roth, Julien Stirnemann, Laurent Salomon, Serge Romana, Michel Vekemans, Yves Ville & Catherine Turleau. (2015) A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test. Cytogenetic and Genome Research 147:2-3, pages 103-110.
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Sam Riedijk, Karin Diderich, Sanne van der Steen, Lutgarde Govaerts, Marieke Joosten, Maarten Knapen, Femke de Vries, Diane van Opstal, Aad Tibben & Robert-Jan Galjaard. (2014) The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing. Journal of Clinical Medicine 3:3, pages 713-723.
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Evangelia Karampetsou, Deborah Morrogh & Lyn Chitty. (2014) Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use?. Journal of Clinical Medicine 3:2, pages 663-678.
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Joo Wook Ahn, Susan Bint, Melita D. Irving, Phillipa M. Kyle, Ranjit Akolekar, Shehla N. Mohammed & Caroline Mackie Ogilvie. (2014) A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings. PeerJ 2, pages e354.
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Peter Miny, Friedel Wenzel, Sevgi Tercanli & Isabel Filges. (2013) Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy?. Microarrays 2:4, pages 304-317.
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How does altering the resolution of chromosomal microarray analysis in the prenatal setting affect the rates of pathological and uncertain findings?

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How does altering the resolution of chromosomal microarray analysis in the prenatal setting affect the rates of pathological and uncertain findings?

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