Next-generation sequencing and prenatal 'omics: advanced diagnostics and new insights into human development.
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- Record sourced from PubMed, PMID 30032162.
- Also identified by DOI 10.1038/s41436-018-0087-4 and PMC identifier 6123255.
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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.
Medical subject headings
- Genetic Testing
- High-Throughput Nucleotide Sequencing
- Prenatal Diagnosis