The Promise of Whole-exome Sequencing for Prenatal Genetic Diagnosis

Author(s): Jiun Kang*.

Journal Name: Current Pharmacogenomics and Personalized Medicine
Formerly Current Pharmacogenomics

Volume 17 , Issue 1 , 2020

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Graphical Abstract:


Prenatal genetic diagnosis provides information for pregnancy and perinatal decision- making and management. Cytogenetic testing methods, including chromosomal microarray analysis and gene panels, have evolved to become a part of routine laboratory testing, providing valuable diagnostic and prognostic information for prenatal diagnoses. Despite this progress, however, cytogenetic analyses are limited by their resolution and diagnosis is only possible in around 40% of the dysmorphic fetuses. The advent of nextgeneration sequencing (NGS), whole-genome sequencing or whole-exome sequencing has revolutionized prenatal diagnosis and fetal medicine. These technologies have improved the identification of genetic disorders in fetuses with structural abnormalities and provide valuable diagnostic and prognostic information for the detection of genomic defects. Here, the potential future of prenatal genetic diagnosis, including a move toward NGS technologies, is discussed.

Keywords: Prenatal genetic diagnosis, next-generation sequencing, whole-genome sequencing, whole-exome sequencing, cytogenetic testing, genomic defects.

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Article Details

Year: 2020
Page: [25 - 31]
Pages: 7
DOI: 10.2174/1875692117666191106105918
Price: $25

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PDF: 11