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Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature reviewLiu, Siping ; Yang, Fang ; Chang, Qingxian ; Jia, Bei ; Xu, Yushuang ; Wu, Ruifeng ; Li, Liyan ; Chen, Weishan ; Yin, Ailan ; Huang, Fodi ; Feng, Suxin ; Li, FenxiaMolecular cytogenetics, 2022-07, Vol.15 (1), p.1-29, Article 29 [Periódico revisado por pares]London: BioMed Central LtdTexto completo disponível |
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Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 casesGe, Yunsheng ; Li, Jia ; Zhuang, Jianlong ; Zhang, Jian ; Huang, Yanru ; Tan, Meihua ; Li, Wei ; Chen, Jiayan ; Zhou, YulinBMC medical genomics, 2021-04, Vol.14 (1), p.106-12, Article 106 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Non-invasive prenatal testing: ethical issues exploredDE JONG, Antina ; DONDORP, Wybo J ; DE DIE-SMULDERS, Christine E. M ; FRINTS, Suzanne G. M ; DE WERT, Guido M. W. REuropean journal of human genetics : EJHG, 2010-03, Vol.18 (3), p.272-277 [Periódico revisado por pares]Basingstoke: Nature Publishing GroupTexto completo disponível |
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Should cell‐free DNA testing be used in pregnancy with increased fetal nuchal translucency?Miranda, J. ; Paz y Miño, F. ; Borobio, V. ; Badenas, C. ; Rodriguez‐Revenga, L. ; Pauta, M. ; Borrell, A.Ultrasound in obstetrics & gynecology, 2020-05, Vol.55 (5), p.645-651 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPTSrebniak, 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, DianeMolecular cytogenetics, 2016-09, Vol.9 (1), p.69-69, Article 69 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnanciesLa Verde, Marco ; De Falco, Luigia ; Torella, Annalaura ; Savarese, Giovanni ; Savarese, Pasquale ; Ruggiero, Raffaella ; Conte, Anna ; Fico, Vera ; Torella, Marco ; Fico, AntonioBMC medical genomics, 2021-03, Vol.14 (1), p.93-11, Article 93 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Identification of copy number variations among fetuses with isolated ultrasound soft markers in pregnant women not of advanced maternal ageLiu, Yunyun ; Liu, Sha ; Liu, Jianlong ; Bai, Ting ; Jing, Xiaosha ; Deng, Cechuan ; Xia, Tianyu ; Cheng, Jing ; Xing, Lingling ; Wei, Xiang ; Luo, Yuan ; Zhou, Quanfang ; Xie, Dan ; Xiong, Yueyue ; Liu, Ling ; Zhu, Qian ; Liu, HongqianOrphanet journal of rare diseases, 2024-02, Vol.19 (1), p.56-56, Article 56 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Pathogenic copy number variations are associated with foetal short femur length in a tertiary referral centre studyCai, Meiying ; Que, Yanting ; Chen, Meihuan ; Zhang, Min ; Huang, Hailong ; Xu, Liangpu ; Lin, NaJournal of cellular and molecular medicine, 2023-08, Vol.27 (16), p.2354-2361 [Periódico revisado por pares]England: John Wiley & Sons, IncTexto completo disponível |
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Analyzing false‐negative results detected in low‐risk non‐invasive prenatal screening casesLin, Ying ; Liang, Dong ; Wang, Yan ; Li, Hang ; Liu, An ; Hu, Ping ; Xu, ZhengfengMolecular genetics & genomic medicine, 2020-04, Vol.8 (4), p.e1185-n/a [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |
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The Contribution of QF-PCR and Pathology Studies in the Diagnosis of Diandric Triploidy/Partial MoleBenítez, Leticia ; Pauta, Montse ; Badenas, Cèlia ; Madrigal, Irene ; Nadal, Alfons ; Marimon, Edda ; Borrell, AntoniDiagnostics (Basel), 2021-09, Vol.11 (10), p.1811 [Periódico revisado por pares]Basel: MDPI AGTexto completo disponível |