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Original Article

Submicroscopic chromosomal abnormalities in fetuses with increased nuchal translucency and normal karyotype

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Pages 194-198 | Received 19 Aug 2015, Accepted 16 Mar 2016, Published online: 19 Apr 2016

Keep up to date with the latest research on this topic with citation updates for this article.

Read on this site (4)

Xin-Rong Zhao, Li Gao, Yi Wu & Yan-Lin Wang. (2020) Application of chromosomal microarray in fetuses with increased nuchal translucency. The Journal of Maternal-Fetal & Neonatal Medicine 33:10, pages 1749-1754.
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Xin Yang, Dan Yang, Qiong Deng, Fu Fang, Jin Han, Li Zhen, Dongzhi Li & Can Liao. (2020) Risk factors associated with fetal pleural effusion in prenatal diagnosis: a retrospective study in a single institute in Southern China. Journal of Obstetrics and Gynaecology 40:4, pages 443-447.
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Min Pan, Meifang Lin, Jin Han, Ru Li, Li Zhen, Xin Yang, Shanshan Mei, Yumian Lai, Dongzhi Li & Can Liao. (2020) What can be inferred if the fetal increased nuchal translucency thickness changes?. The Journal of Maternal-Fetal & Neonatal Medicine 33:7, pages 1080-1085.
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Lv-Yin Huang, Min Pan, Jin Han, Li Zhen, Xin Yang & Dong-Zhi Li. (2018) What would be missed in the first trimester if nuchal translucency measurement is replaced by cell free DNA foetal aneuploidy screening?. Journal of Obstetrics and Gynaecology 38:4, pages 498-501.
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Articles from other publishers (18)

Meiying Cai, Na Lin, Nan Guo, Linjuan Su, Xiaoqing Wu, Xiaorui Xie, Ying Li, Shuqiong He, Xianguo Fu, Liangpu Xu & Hailong Huang. (2023) Using single nucleotide polymorphism array for prenatal diagnosis in a large multicenter study in Southern China. Scientific Reports 13:1.
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Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Laura Bernardini, Antonella Giancotti, Gerardo Piacentini, Alessandro De Luca & Antonio Pizzuti. (2022) A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series. Diagnostics 13:1, pages 48.
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Manon Boutot, Catherine Yardin, Renaud Martin, Sylvie Bourthoumieu, Veronique Aubard, Sophie Martin, Yves Aubard & Perrine Coste-Mazeau. (2022) Follow-up of increased nuchal translucency: Results of a study of 398 cases. Journal of Gynecology Obstetrics and Human Reproduction 51:10, pages 102482.
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Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Enrica Marchionni, Alice Traversa & Antonio Pizzuti. (2022) Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis. Diagnostics 12:3, pages 575.
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Lisa Hui, Cecilia Pynaker, Leonard Bonacquisto, Anthea Lindquist, Alice Poulton, Eliza Kluckow, Briohny Hutchinson, Fiona Norris, Mark D. Pertile, Lucy Gugasyan, Abhijit Kulkarni, James Harraway, Amanda Howden, Richard McCoy, Fabricio da Silva Costa, Melody Menezes, Ricardo Palma-Dias, Debbie Nisbet, Nicole Martin, Michael Bethune, Zeffie Poulakis & Jane Halliday. (2021) Reexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage study. American Journal of Obstetrics and Gynecology 225:5, pages 527.e1-527.e12.
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Matthew Hoi Kin Chau, Jicheng Qian, Zihan Chen, Ying Li, Yu Zheng, Wing Ting Tse, Yvonne K. Kwok, Tak Yeung Leung, Zirui Dong & Kwong Wai Choy. (2021) Trio-Based Low-Pass Genome Sequencing Reveals Characteristics and Significance of Rare Copy Number Variants in Prenatal Diagnosis. Frontiers in Genetics 12.
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Joanne Kelley, George McGillivray, Simon Meagher & Lisa Hui. (2021) Increased nuchal translucency after low‐risk noninvasive prenatal testing: What should we tell prospective parents?. Prenatal Diagnosis 41:10, pages 1305-1315.
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Huilin Wang, Zirui Dong, Rui Zhang, Matthew Hoi Kin Chau, Zhenjun Yang, Kathy Yin Ching Tsang, Hoi Kin Wong, Baoheng Gui, Zhuo Meng, Kelin Xiao, Xiaofan Zhu, Yanfang Wang, Shaoyun Chen, Tak Yeung Leung, Sau Wai Cheung, Yvonne K. Kwok, Cynthia C. Morton, Yuanfang Zhu & Kwong Wai Choy. (2019) Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis. Genetics in Medicine 22:3, pages 500-510.
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J. Beal, G. Jedraszak, A.-H. Saliou, H. Copin, F. Sergent, J. Gondry, P. Merviel & C. Muszynski. (2020) L’apport de l’ACPA dans la prise en charge des hyperclartés nucales. Gynécologie Obstétrique Fertilité & Sénologie  48:2, pages 174-180.
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Hsiu-Huei Peng, Chien-Hong Lee, Sheng-Yuan Su, Kuan-Ju Chen, Yen-Chang Lee, Shu-Han You, Wen-Fang Lee & Po-Jen Cheng. (2019) Prenatally diagnosed de novo segmental amplification or deletion by microarray-based comparative genomic hybridization: A retrospective study. Taiwanese Journal of Obstetrics and Gynecology 58:5, pages 662-666.
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Kwong Wai Choy, Huilin Wang, Mengmeng Shi, Jingsi Chen, Zhenjun Yang, Rui Zhang, Huanchen Yan, Yanfang Wang, Shaoyun Chen, Matthew Hoi Kin Chau, Ye Cao, Olivia Y.M. Chan, Yvonne K. Kwok, Yuanfang Zhu, Min Chen, Tak Yeung Leung & Zirui Dong. (2019) Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis. Frontiers in Genetics 10.
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Rita Cicatiello, Piero Pignataro, Antonella Izzo, Nunzia Mollo, Lucia Pezone, Giuseppe Maria Maruotti, Laura Sarno, Gabriella Sglavo, Anna Conti, Rita Genesio & Lucio Nitsch. (2019) Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency. Medical Sciences 7:3, pages 40.
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Carmen Cotarelo-Pérez, Raluca Oancea-Ionescu, Eloy Asenjo-de-la-Fuente, Dolores Ortega-de-Heredia, Patricia Soler-Ruiz, Pluvio Coronado-Martín & María Fenollar-Cortés. (2019) A contingent model for cell-free DNA testing to detect fetal aneuploidy after first trimester combined screening. European Journal of Obstetrics & Gynecology and Reproductive Biology: X 1, pages 100002.
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Barbara M. O’Brien & Lauren Lichten. 2019. Perinatal Genetics. Perinatal Genetics 75 83 .
So Hyun Shim & Dong Hyun Cha. (2018) Prenatal chromosomal microarray analysis of fetus with increased nuchal translucency. Journal of Genetic Medicine 15:2, pages 49-54.
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Adi Reches, Liran Hiersch, Sharon Simchoni, Dalit Barel, Rotem Greenberg, Liat Ben Sira, Gustavo Malinger & Yuval Yaron. (2018) Whole-exome sequencing in fetuses with central nervous system abnormalities. Journal of Perinatology 38:10, pages 1301-1308.
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Chih-Ping Chen, Chen-Ju Lin, Yen-Ni Chen, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Li-Feng Chen & Wayseen Wang. (2017) Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 2q (2q31.1-q32.1) encompassing HOXD13 , ZNF385B and ZNF804A associated with syndactyly and increased first-trimester nuchal translucency. Taiwanese Journal of Obstetrics and Gynecology 56:3, pages 398-401.
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Malgorzata I. Srebniak, Merel C. de Wit, Karin E. M. Diderich, Lutgarde C. P. Govaerts, Marieke Joosten, Maarten F. C. M. Knapen, Marnix J. Bos, Gerda A. G. Looye-Bruinsma, Mieke Koningen, Attie T. J. I. Go, Robert Jan H. Galjaard & Diane Van Opstal. (2016) Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT. Molecular Cytogenetics 9:1.
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