Literature DB >> 28345240

Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations.

Ahmad N Abou Tayoun1, Nancy B Spinner1, Heidi L Rehm2,3,4, Robert C Green4,5, Diana W Bianchi6,7.   

Abstract

Clinical diagnostic laboratories are producing next-generation sequencing-based test results that are becoming increasingly incorporated into patient care. Whole genome and exome sequencing on fetal material derived from amniocytes, chorionic villi, or products of conception is starting to be offered clinically in specialized centers, but it has not yet become routine practice. The technical, interpretation, and ethical challenges are greatest in the area of prenatal medicine because the fetus has a limited health history, and the physical examination is only indirectly available via prenatal sonography. Here, we provide an overview of these challenges and highlight the clinical utility, reporting, and counseling issues associated with prenatal DNA sequencing. Future considerations are also discussed.
© 2017 John Wiley & Sons, Ltd. © 2017 John Wiley & Sons, Ltd.

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Mesh:

Year:  2017        PMID: 28345240     DOI: 10.1002/pd.5038

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  12 in total

1.  Importance of complete phenotyping in prenatal whole exome sequencing.

Authors:  Mahmoud Aarabi; Olivia Sniezek; Huaiyang Jiang; Devereux N Saller; Daniel Bellissimo; Svetlana A Yatsenko; Aleksandar Rajkovic
Journal:  Hum Genet       Date:  2018-02-01       Impact factor: 4.132

Review 2.  The current and future impact of genome-wide sequencing on fetal precision medicine.

Authors:  Riwa Sabbagh; Ignatia B Van den Veyver
Journal:  Hum Genet       Date:  2019-11-21       Impact factor: 4.132

Review 3.  Application of exome sequencing for prenatal diagnosis: a rapid scoping review.

Authors:  Misty Pratt; Chantelle Garritty; Micere Thuku; Leila Esmaeilisaraji; Candyce Hamel; Taila Hartley; Kathryn Millar; Becky Skidmore; Shelley Dougan; Christine M Armour
Journal:  Genet Med       Date:  2020-08-04       Impact factor: 8.822

4.  Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.

Authors:  Cong Ma; Lv Liu; Fang-Na Wang; Hai-Shen Tian; Yan Luo; Rong Yu; Liang-Liang Fan; Ya-Li Li
Journal:  BMC Med Genet       Date:  2019-11-06       Impact factor: 2.103

Review 5.  Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review.

Authors:  Daniele Guadagnolo; Gioia Mastromoro; Francesca Di Palma; Antonio Pizzuti; Enrica Marchionni
Journal:  Diagnostics (Basel)       Date:  2021-02-02

Review 6.  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

Review 7.  Bartter's syndrome: clinical findings, genetic causes and therapeutic approach.

Authors:  Flavia Cristina Carvalho Mrad; Sílvia Bouissou Morais Soares; Luiz Alberto Wanderley de Menezes Silva; Pedro Versiani Dos Anjos Menezes; Ana Cristina Simões-E-Silva
Journal:  World J Pediatr       Date:  2020-06-01       Impact factor: 2.764

8.  Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation.

Authors:  Shahela S Kodabuckus; Elizabeth Quinlan-Jones; Dominic J McMullan; Eamonn R Maher; Matthew E Hurles; Pelham M Barton; Mark D Kilby
Journal:  Fetal Diagn Ther       Date:  2020-01-21       Impact factor: 2.587

Review 9.  Chances and Challenges of New Genetic Screening Technologies (NIPT) in Prenatal Medicine from a Clinical Perspective: A Narrative Review.

Authors:  Ivonne Bedei; Aline Wolter; Axel Weber; Fabrizio Signore; Roland Axt-Fliedner
Journal:  Genes (Basel)       Date:  2021-03-29       Impact factor: 4.096

Review 10.  Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis.

Authors:  Gioia Mastromoro; Daniele Guadagnolo; Nader Khaleghi Hashemian; Enrica Marchionni; Alice Traversa; Antonio Pizzuti
Journal:  Diagnostics (Basel)       Date:  2022-02-23
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