Literature DB >> 30129190

Detection of rare autosomal trisomies through non-invasive prenatal testing: benefits for pregnancy management.

N Chatron1,2, M Till1, C Abel1,3, C Bardel4,5, F Ramond6, D Sanlaville1,2, C Schluth-Bolard1,2.   

Abstract

Mesh：

Year:  2019        PMID： 30129190     DOI： 10.1002/uog.20094

Source DB:  PubMed          Journal:  Ultrasound Obstet Gynecol        ISSN： 0960-7692            Impact factor:   7.299


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  5 in total

Review 1.  Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review.

Authors:  Xiaofan Zhu; Doris Yuk Man Lam; Matthew Hoi Kin Chau; Shuwen Xue; Peng Dai; Ganye Zhao; Ye Cao; Sunny Wai Hung Cheung; Yvonne Ka Yin Kwok; Kwong Wai Choy; Xiangdong Kong; Tak Yeung Leung
Journal:  Genes (Basel)       Date:  2020-12-24       Impact factor: 4.096

2.  Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening.

Authors:  Junjie Hu; Kai Yan; Pengzhen Jin; Yanmei Yang; Yixi Sun; Minyue Dong
Journal:  Mol Cytogenet       Date:  2022-09-01       Impact factor: 1.904

Review 3.  Prenatal diagnosis of Prader-Willi syndrome due to uniparental disomy with NIPS: Case report and literature review.

Authors:  Jekaterina Shubina; Ilya Y Barkov; Olga K Stupko; Maria V Kuznetsova; Andrey Y Goltsov; Taisya O Kochetkova; Dmitry Y Trofimov; Gennady T Sukhikh
Journal:  Mol Genet Genomic Med       Date:  2020-08-28       Impact factor: 2.183

4.  Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations.

Authors:  Thomas Harasim; Teresa Neuhann; Anne Behnecke; Miriam Stampfer; Elke Holinski-Feder; Angela Abicht
Journal:  J Clin Med       Date:  2022-01-13       Impact factor: 4.241

5.  Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report.

Authors:  Taccyanna M Ali; Emilia Mateu-Brull; Nuria Balaguer; Camila Dantas; Haline Risso Borges; Mariana Quintans Guerra de Oliveira; Lorena Rodrigo; Inmaculada Campos-Galindo; Roser Navarro; Miguel Milán
Journal:  Eur J Med Res       Date:  2021-06-29       Impact factor: 2.175
  5 in total

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