Considerations for whole exome sequencing unique to prenatal care
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REVIEW
Considerations for whole exome sequencing unique to prenatal care Ahmad Abou Tayoun1 · Heather Mason‑Suares2,3 Received: 10 January 2019 / Accepted: 29 October 2019 © Springer-Verlag GmbH Germany, part of Springer Nature 2019
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.
Introduction Scanning the entire fetal genome for pathogenic, and even potentially actionable, sequence variants has become increasingly feasible following mapping of the human genome (Lander et al. 2001; Venter et al. 2001) and the introduction of massively parallel sequencing, so-called next generation sequencing (NGS) technology (Margulies et al. 2005; Shendure et al. 2005). Such genomic information can have significant impact on fetal development, perinatal care, newborn well-being, and the postnatal life. Several studies have already demonstrated the benefits of prenatal whole exome sequencing (WES), whereby the coding regions of Ahmad N. Abou Tayoun and Heather Mason-Suares contributed equally. Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00439-019-02085-7) contains supplementary material, which is available to authorized users. * Ahmad Abou Tayoun [email protected] * Heather Mason‑Suares hmason‑[email protected] 1
Al Jalila Children’s Specialty Hospital, Al Jaddaf, Dubai, UAE
2
Departments of Pathology, Harvard Medical School and Brigham and Women’s Hospital, Boston, MA, USA
3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02115, USA
the genome (with some exceptions) are captured, sequenced, and analyzed (Alamillo et al. 2015; Carss et al. 2014; Chandler et al. 2018; Drury et al. 2015; Fu et al. 2018; Lei et al. 2017; Pangalos et al. 2016; Vora et al. 2017; Westerfield et al. 2015; Yang et al. 2014; Yates et al. 2017). In fact, the prenatal WES diagnostic yield has been reported to be similar to that reported for postnatal WES: ~ 25% diagnostic yield (Fu et al. 2018; Retterer et al. 2016; Yang et al. 2013, 2014). Although more studies, with homogeneous inclusion criteria and analysis strategy (singleton versus trio) as well as postnatal follow-up, are needed to further establish the prenatal WES clini
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