Literature DB >> 31701237

Considerations for whole exome sequencing unique to prenatal care.

Ahmad Abou Tayoun1, Heather Mason-Suares2,3.   

Abstract

Whole exome sequencing (WES) is increasingly being used in the prenatal setting. The emerging data support the clinical utility of prenatal WES based on its diagnostic yield, which can be as high as 80% for certain ultrasound findings. However, detailed practice and laboratory guidelines, addressing the indications for prenatal WES and the surrounding technical, interpretation, ethical, and counseling issues, are still lacking. Herein, we review the literature and summarize the most recent findings and applications of prenatal WES. This review offers specialists and clinical genetic laboratorians a body of evidence and expert opinions that can serve as a resource to assist in their practice. Finally, we highlight the emerging technologies that promise a future of prenatal WES without the risks associated with invasive testing.

Year:  2019        PMID: 31701237     DOI: 10.1007/s00439-019-02085-7

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  7 in total

1.  The fetus in the age of the genome.

Authors:  Dagmar Schmitz; Wolfram Henn
Journal:  Hum Genet       Date:  2021-08-23       Impact factor: 5.881

2.  Special issue on "Feto-Maternal Genomic Medicine": a decade of incredible advances.

Authors:  Kathryn J Gray; Louise Wilkins-Haug
Journal:  Hum Genet       Date:  2020-09       Impact factor: 4.132

Review 3.  Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.

Authors:  Emily C Daykin; Emory Ryan; Ellen Sidransky
Journal:  Mol Genet Metab       Date:  2021-01-09       Impact factor: 4.797

4.  Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.

Authors:  Mateja Smogavec; Maria Gerykova Bujalkova; Reinhard Lehner; Jürgen Neesen; Jana Behunova; Gülen Yerlikaya-Schatten; Theresa Reischer; Reinhard Altmann; Denisa Weis; Hans-Christoph Duba; Franco Laccone
Journal:  Eur J Hum Genet       Date:  2022-01-01       Impact factor: 4.246

5.  The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study.

Authors:  Rivka Sukenik-Halevy; Sharon Perlman; Noa Ruhrman-Shahar; Offra Engel; Naama Orenstein; Claudia Gonzaga-Jauregui; Alan R Shuldiner; Nurit Magal; Ofir Hagari; Noy Azulay; Gabriel Arie Lidzbarsky; Lily Bazak; Lina Basel-Salmon
Journal:  Prenat Diagn       Date:  2022-01-24       Impact factor: 3.242

6.  Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?

Authors:  Rhiannon Mellis; Dagmar Tapon; Nora Shannon; Esther Dempsey; Pranav Pandya; Lyn S Chitty; Melissa Hill
Journal:  Prenat Diagn       Date:  2022-04-14       Impact factor: 3.242

Review 7.  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

  7 in total

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