Literature DB >> 29428287

Whole Exome Sequencing: Applications in Prenatal Genetics.

Angie C Jelin1, Neeta Vora2.   

Abstract

Prenatal whole exome sequencing (WES) has the potential to increase the ability to provide more diagnostic capabilities in fetuses with sonographic abnormalities, which would then improve the ability to counsel families. It is also often the first step in improving the path toward informed diagnosis and treatment, which is especially important in the era of advancing in utero fetal therapy. This article discusses the current literature regarding prenatal WES, clinical indications for WES, challenges with interpretation/counseling (variants of unknown significance), research priorities, ethical issues, and potential future advances.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Abnormalities; Exome; Fetal; Prenatal ultrasonography; Sequencing

Mesh:

Year:  2018        PMID: 29428287      PMCID: PMC5813701          DOI: 10.1016/j.ogc.2017.10.003

Source DB:  PubMed          Journal:  Obstet Gynecol Clin North Am        ISSN: 0889-8545            Impact factor:   2.844


  65 in total

1.  The new genetics and informed consent: differentiating choice to preserve autonomy.

Authors:  Eline M Bunnik; Antina de Jong; Niels Nijsingh; Guido M W R de Wert
Journal:  Bioethics       Date:  2013-05-30       Impact factor: 1.898

Review 2.  X linked hydrocephalus and MASA syndrome.

Authors:  S Kenwrick; M Jouet; D Donnai
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

Review 3.  What can exome sequencing do for you?

Authors:  Jacek Majewski; Jeremy Schwartzentruber; Emilie Lalonde; Alexandre Montpetit; Nada Jabado
Journal:  J Med Genet       Date:  2011-07-05       Impact factor: 6.318

4.  Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.

Authors:  Weimin Bi; Amy Breman; Chad A Shaw; Pawel Stankiewicz; Tomasz Gambin; Xinyan Lu; Sau Wai Cheung; Laird G Jackson; James R Lupski; Ignatia B Van den Veyver; Arthur L Beaudet
Journal:  Prenat Diagn       Date:  2012-01       Impact factor: 3.050

5.  Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

Authors:  Carol Jean Saunders; Neil Andrew Miller; Sarah Elizabeth Soden; Darrell Lee Dinwiddie; Aaron Noll; Noor Abu Alnadi; Nevene Andraws; Melanie LeAnn Patterson; Lisa Ann Krivohlavek; Joel Fellis; Sean Humphray; Peter Saffrey; Zoya Kingsbury; Jacqueline Claire Weir; Jason Betley; Russell James Grocock; Elliott Harrison Margulies; Emily Gwendolyn Farrow; Michael Artman; Nicole Pauline Safina; Joshua Erin Petrikin; Kevin Peter Hall; Stephen Francis Kingsmore
Journal:  Sci Transl Med       Date:  2012-10-03       Impact factor: 17.956

Review 6.  Committee Opinion No. 640: Cell-Free DNA Screening For Fetal Aneuploidy.

Authors: 
Journal:  Obstet Gynecol       Date:  2015-09       Impact factor: 7.661

7.  Intrauterine fetal transfusion, 1963-90.

Authors:  N S Pattison; A B Roberts; N Mantell
Journal:  Ultrasound Obstet Gynecol       Date:  1992-09-01       Impact factor: 7.299

8.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Authors:  Sarah S Kalia; Kathy Adelman; Sherri J Bale; Wendy K Chung; Christine Eng; James P Evans; Gail E Herman; Sophia B Hufnagel; Teri E Klein; Bruce R Korf; Kent D McKelvey; Kelly E Ormond; C Sue Richards; Christopher N Vlangos; Michael Watson; Christa L Martin; David T Miller
Journal:  Genet Med       Date:  2016-11-17       Impact factor: 8.822

9.  First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects.

Authors:  Constantinos Pangalos; Birgitta Hagnefelt; Konstantinos Lilakos; Christopher Konialis
Journal:  PeerJ       Date:  2016-04-26       Impact factor: 2.984

10.  Evaluation of teriparatide treatment in adults with osteogenesis imperfecta.

Authors:  Eric S Orwoll; Jay Shapiro; Sandra Veith; Ying Wang; Jodi Lapidus; Chaim Vanek; Jan L Reeder; Tony M Keaveny; David C Lee; Mary A Mullins; Sandesh C S Nagamani; Brendan Lee
Journal:  J Clin Invest       Date:  2014-01-27       Impact factor: 14.808

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  21 in total

1.  The utility of exome sequencing for fetal pleural effusions.

Authors:  Angie C Jelin; Nara Sobreira; Elizabeth Wohler; Benjamin Solomon; Teresa Sparks; Katelynn G Sagaser; Katherine R Forster; Jena Miller; P Dane Witmer; Ada Hamosh; David Valle; Karin Blakemore
Journal:  Prenat Diagn       Date:  2020-02-17       Impact factor: 3.050

2.  Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes.

Authors:  Sarah M Robbins; Matthew A Thimm; David Valle; Angie C Jelin
Journal:  J Assist Reprod Genet       Date:  2019-07-04       Impact factor: 3.412

3.  Expression characteristics of long non-coding RNA in colon adenocarcinoma and its potential value for judging the survival and prognosis of patients: bioinformatics analysis based on The Cancer Genome Atlas database.

Authors:  Ruofan Li; Xu Gao; Haitao Sun; Lixin Sun; Xiaojian Hu
Journal:  J Gastrointest Oncol       Date:  2022-06

4.  The G199X and V157fs mutations in the TP53 gene promote malignancy in serous ovarian cancer: an analysis using whole-exome sequencing.

Authors:  Dan Su; Man Nie; Jun Yue
Journal:  Ann Transl Med       Date:  2021-04

Review 5.  A narrative review of in utero gene therapy: advances, challenges, and future considerations.

Authors:  Nicholas K Yung; Nathan L Maassel; Sarah J Ullrich; Adele S Ricciardi; David H Stitelman
Journal:  Transl Pediatr       Date:  2021-05

6.  Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease.

Authors:  Xiufang Zhi; Qi Ai; Wenchao Sheng; Yuping Yu; Jianbo Shu; Changshun Yu; Xiaoli Yu; Dong Li; Chunquan Cai
Journal:  Front Genet       Date:  2022-03-31       Impact factor: 4.599

7.  Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.

Authors:  Lior Greenbaum; Ben Pode-Shakked; Shlomit Eisenberg-Barzilai; Michal Dicastro-Keidar; Anat Bar-Ziv; Nurit Goldstein; Haike Reznik-Wolf; Hana Poran; Amihai Rigbi; Ortal Barel; Aida M Bertoli-Avella; Peter Bauer; Miriam Regev; Annick Raas-Rothschild; Elon Pras; Michal Berkenstadt
Journal:  Front Genet       Date:  2019-06-25       Impact factor: 4.599

Review 8.  Next-generation sequencing and prenatal 'omics: advanced diagnostics and new insights into human development.

Authors:  Neeta L Vora; Lisa Hui
Journal:  Genet Med       Date:  2018-07-22       Impact factor: 8.822

9.  Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing.

Authors:  Chao Liang; Yong-Jie Wang; Yu-Xuan Wei; Yang Dong; Zhi-Chang Zhang
Journal:  Orthop Surg       Date:  2020-04-15       Impact factor: 2.071

Review 10.  The Molecular Genetics of Marfan Syndrome.

Authors:  Qiu Du; Dingding Zhang; Yue Zhuang; Qiongrong Xia; Taishen Wen; Haiping Jia
Journal:  Int J Med Sci       Date:  2021-05-27       Impact factor: 3.738

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