Human Genome Epidemiology Literature Finder
Reproductive and Child Health
Records 1 - 30 (of 69 Records) |
Query Trace: Prenatal Testing[original query] |
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Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method. Molecular genetics & genomic medicine 2021 8 9 (10): e1758. Ye Yanchou, Li Weihao, Wang Guan, Zhan Longsheng, Lin Junwei, Li Tian, Zhang J |
Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis. BMC pregnancy and childbirth 2021 7 21 (1): 496. Zhang Jinman, Tang Xinhua, Hu Jilin, He Guilin, Wang Jian, Zhu Yingting, Zhu Baoshe |
[Prenatal diagnosis of a fetus with chromosome 18p deletion and duplication]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 6 38 (6): 569-572. Li Wenwen, Shao Huifen, Yao Juan, Shi Chunxia, Yang Xinmiao, Zhang Jinghui, Zhang Xinli, Shen Guoso |
Choroid Plexus Cysts: Single Nucleotide Polymorphism Array Analysis of Associated Genetic Anomalies and Resulting Obstetrical Outcomes. Risk management and healthcare policy 2021 6 14 2491-2497. Cai Meiying, Huang Hailong, Su Linjuan, Wu Xiaoqing, Xie Xiaorui, Xu Liangpu, Lin |
[Impact of confined placental mosaicism on non-invasive prenatal testing and pregnancy outcomes]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 4 38 (4): 335-338. Wu Xiaoqing, Huang Hailong, Chen Xuemei, Chen Xiaolan, Shen Qingmei, He Deqin, Xu Liang |
[Non-invasive prenatal detection of ocutaneous albinism type I based on cfDNA barcode-enabled single-molecule test]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 4 38 (4): 317-320. Wang Conghui, Chen Chen, Wang Xiaofeng, Zhao Xuechao, Zhao Ganye, Liu Li'na, Kong Xiangdo |
[Application analysis of noninvasive prenatal testing for fetal chromosome copy number variations in Chinese laboratories]. Zhonghua yi xue za zhi 2021 4 101 (15): 1088-1092. Shi J P, Tan P, Li J M, Zhang |
Utility of noninvasive genome-wide screening: a prospective cohort of obstetric patients undergoing diagnostic testing. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Mar . Guseh Stephanie, Wilkins-Haug Louise, Kaimal Anjali, Dunn-Albanese Lisa, Adams Sophie, Carroll Sarah, Discenza Marie, Dobson Lori, Brillinger Marney, Foster Judith, Gbur Samantha, Green Hayley, Herrig Nancy, Mandigo Chelsea, Pacione Michelle, Roberts Penelope, Sassaman Abigail, Steinberg Kathleen, Studwell Courtney, Gray Kathryn |
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort. Genetics in medicine : official journal of the American College of Medical Genetics 2021 2 23 (6): 1116-1124. Scott Alexandra, Di Giosaffatte Niccolò, Pinna Valentina, Daniele Paola, Corno Sara, D'Ambrosio Valentina, Andreucci Elena, Marozza Annabella, Sirchia Fabio, Tortora Giada, Mangiameli Daniela, Di Marco Chiara, Romagnoli Maria, Donati Ilaria, Zonta Andrea, Grosso Enrico, Naretto Valeria Giorgia, Mastromoro Gioia, Versacci Paolo, Pantaleoni Francesca, Radio Francesca Clementina, Mazza Tommaso, Damante Giuseppe, Papi Laura, Mattina Teresa, Giancotti Antonella, Pizzuti Antonio, Laberge Anne-Marie, Tartaglia Marco, Delrue Marie-Ange, De Luca Alessand |
Estimation of cell-free fetal DNA fraction from maternal plasma based on linkage disequilibrium information. NPJ genomic medicine 2021 10 6 (1): 85. Ju Jia, Li Jia, Liu Siyang, Zhang Haiqiang, Xu Jinjin, Lin Yu, Gao Ya, Zhou Yulin, Jin X |
A Critical Evaluation of Validation and Clinical Experience Studies in Non-Invasive Prenatal Testing for Trisomies 21, 18, and 13 and Monosomy X. Journal of clinical medicine 2022 8 11 (16): . Demko Zachary, Prigmore Brittany, Benn Pet |
Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities. Molecular biology reports 2022 8 49 (10): 9251-9256. Guo Nan, Cai Meiying, Lin Min, Xue Huili, Huang Hailong, Xu Liang |
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study. American journal of human genetics 2022 6 109 (6): 1140-1152. van Prooyen Schuurman Lisanne, Sistermans Erik A, Van Opstal Diane, Henneman Lidewij, Bekker Mireille N, Bax Caroline J, Pieters Mijntje J, Bouman Katelijne, de Munnik Sonja, den Hollander Nicolette S, Diderich Karin E M, Faas Brigitte H W, Feenstra Ilse, Go Attie T J I, Hoffer Mariëtte J V, Joosten Marieke, Komdeur Fenne L, Lichtenbelt Klaske D, Lombardi Maria P, Polak Marike G, Jehee Fernanda S, Schuring-Blom Heleen, Stevens Servi J C, Srebniak Malgorzata I, Suijkerbuijk Ron F, Tan-Sindhunata Gita M, van der Meij Karuna R M, van Maarle Merel C, Vernimmen Vivian, van Zelderen-Bhola Shama L, van Ravesteyn Nicolien T, Knapen Maarten F C M, Macville Merryn V E, Galjaard Robert-Jan H, |
[Detection rate and clinical significance of regions of homozygosity in prenatal genetic diagnosis]. Zhonghua fu chan ke za zhi 2022 4 57 (4): 271-277. Zhu L F, Zhang H M, Mai L H, Sun X F, Liu W |
Confirmed non-invasive prenatal testing for foetal Rh blood group genotyping along with bi-allelic short insertion/deletion polymorphisms as a positive internal control. Transfusion medicine (Oxford, England) 2022 3 32 (2): 141-152. Armstrong-Fisher Sylvia, Koushki Khadijeh, Mashayekhi Kazem, Urbaniak Stanislaw J, van der Schoot Ellen, Varzi Ali Mohamm |
Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies. American journal of medical genetics. Part A 2022 2 188 (5): 1426-1434. Chen Yisheng, Lu Loukaiyi, Zhang Ying, Wang Feifei, Ni Yinghua, Wang Qiang, Ying Chunm |
Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing. Journal of clinical laboratory analysis 2022 12 37 (1): e24827. Huang Quanfei, Liu Yanhui, Lei Wei, Liang Jiajie, Wang Yang, Zheng Minhua, Huang Xiaoyan, Liu Yuanru, Huang Kaisheng, Huang M |
Variability in Fetal Fraction Estimation: Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally. Clinical chemistry 2022 12 69 (2): 160-167. Becking Ellis C, Linthorst Jasper, Patton Simon, Gutowska-Ding Weronika, Goodall Rebecca, Khawaja Farrah, Morgan Fiona, Deans Zandra, Chitty Lyn S, Bekker Mireille N, Scheffer Peter G, Sistermans Erik |
Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience. BMC medical genomics 2022 12 15 (1): 268. Liang Bin, Yu Donghong, Zhao Wantong, Wang Yan, Wu Xiaoqing, Chen Lingji, Lin Na, Huang Hailong, Xu Liang |
[Genetic analysis of a case with a supernumerary marker derived from chromosome 9]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 12 39 (12): 1410-1414. Zhuang Qianmei, Yan Meizhen, Jiang Yuying, Chen Xinying, Zhang Na, Lyu Chunling, Wu Jialing, Wang Yuanb |
Positive predictive value of a single nucleotide polymorphism (SNP)-based NIPT for aneuploidy in twins: Experience from clinical practice. Prenatal diagnosis 2022 11 42 (13): 1587-1593. Kantor Valerie, Mo Lihong, DiNonno Wendy, Howard Katherine, Palsuledesai Charuta C, Parmar Sheetal, Chithiwala Zahabiya, Jelsema Russ, Xu Wenbo, Hedriana Herman |
Genome-Wide Copy Number Variant and High-Throughput Transcriptomics Analyses of Placental Tissues Underscore Persisting Child Susceptibility in At-Risk Pregnancies Cleared in Standard Genetic Testing. International journal of molecular sciences 2022 10 23 (19): . Czamara Darina, Cruceanu Cristiana, Lahti-Pulkkinen Marius, Dieckmann Linda, Ködel Maik, Sauer Susann, Rex-Haffner Monika, Sammallahti Sara, Kajantie Eero, Laivuori Hannele, Lahti Jari, Räikkönen Katri, Binder Elisabeth |
Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations. Frontiers in genetics 2022 1 12 750719. Lv Weigang, Liang Lili, Chen Xin, Li Zhuo, Liang Desheng, Zhu Huimin, Teng Yanling, Wu Weijuan, Wu Lingqian, Han Lians |
[Prenatal diagnosis of two fetuses with Xp22.31 microdeletion syndrome indicated by non-invasive prenatal testing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 8 40 (8): 928-932. Rui Wang, Meixia Xi, Youhua Wei, Li Wei, Wenjuan Zhu, Yan L |
Performance of noninvasive prenatal testing for twin pregnancies in South China. Journal of assisted reproduction and genetics 2023 7 . Dongmei Wang, Haishan Peng, Yixia Wang, Yaping Hou, Fangfang Guo, Juan Zhu, Tingting Hu, Jiexia Ya |
Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants. European journal of human genetics : EJHG 2023 7 . Alireza Haghighi, Zahra Alvandi, Yalda Nilipour, Amirreza Haghighi, Ruth Kornreich, Shahriar Nafissi, Robert J Desni |
Investigating the "Fetal Side" in Recurrent Pregnancy Loss: Reliability of Cell-Free DNA Testing in Detecting Chromosomal Abnormalities of Miscarriage Tissue. Journal of clinical medicine 2023 6 12 (12): . Silvia D'Ippolito, Giuliana Longo, Daniela Orteschi, Andrea Busnelli, Nicoletta Di Simone, Eleonora Pulcinelli, Giorgia Schettini, Giovanni Scambia, Marcella Zolli |
Using single nucleotide polymorphism array for prenatal diagnosis in a large multicenter study in Southern China. Scientific reports 2023 5 13 (1): 7242. Meiying Cai, Na Lin, Nan Guo, Linjuan Su, Xiaoqing Wu, Xiaorui Xie, Ying Li, Shuqiong He, Xianguo Fu, Liangpu Xu, Hailong Hua |
[Genetic analysis of a fetus with mosaicism Y chromosome aberration]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 10 40 (11): 1414-1419. Fanrong Meng, Duan Ju, Xiuyan Wang, Yunfang Shi, Meng Yang, Xiaozhou |
Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting. Scientific reports 2024 1 14 (1): 238. Mengmeng Li, Na Hao, Yulin Jiang, Huili Xue, Yifang Dai, Mingming Wang, Junjie Bai, Yan Lv, Qingwei Qi, Xiya Zh |
- Page last reviewed:Feb 1, 2024
- Page last updated:May 13, 2024
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