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

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Neeta L Vora, Lisa Hui

Abstract

Prenatal genetics has evolved over the last decade to include application of new 'omics technologies to improve perinatal care. The clinical utility of these technologies when applied to direct fetal specimens from amniocentesis or chorionic villus sampling is being explored. In this review, we provide an overview of use of prenatal exome sequencing and role in evaluation of the structurally abnormal fetus, potential applications of genome sequencing, and finally, use of transcriptomics to assess placental and fetal well-being.

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Citations

Nov 23, 2019·Human Genetics·Riwa Sabbagh, Ignatia B Van den Veyver
Dec 29, 2020·Frontiers in Immunology·Reetika Malik YadavManisha Rajan Madkaikar
Jan 15, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Leandra K TolussoDaniel T Swarr
Nov 21, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Asha N TalatiNeeta L Vora

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Methods Mentioned

BETA
exome sequencing
RNA-seq
PCR
dissection

Software Mentioned

Human BodyMap

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