Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2018 Aug;20(8):791-799.
doi: 10.1038/s41436-018-0087-4. Epub 2018 Jul 22.

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

Neeta L Vora  1 , Lisa Hui  2   3   4   5
Affiliations
Review

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

Neeta L Vora et al. Genet Med. 2018 Aug.

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.

Keywords: Exome; Fetus; Genomics; Prenatal; Transcriptome.

PubMed Disclaimer

Conflict of interest statement

DISCLOSURE

The authors declare no conflict of interest.

Figures

Fig. 1
Fig. 1
Considerations specific to prenatal sequencing. CVS chorionic villus sampling, AF Amniotic fluid, POC Products of coneption, CPM Confined placental mosaicism, MCC Maternal cell contamination, CH Compound heterozygous
Fig. 2
Fig. 2
Approach to selection of prenatal exome sequencing candidates and variant interpretation. CNV, copy-number variant
Fig. 3
Fig. 3. Single-cell transcriptomic profiling and the dissection of the cellular heterogeneity of human placenta (Tsang et al.).
Cellular heterogeneity of the human placenta is dissected by droplet-based single-cell transcriptomic profiling. Cell type–specific signatures of different types of placental cells are identified and used to obtain information of cellular dynamics from maternal plasma RNA profiles in pregnancy and preeclampsia
See this image and copyright information in PMC

References

    1. Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367:2175–84. - PMC - PubMed
    1. Murphy SL, Mathews TJ, Martin JA, et al. Annual summary of vital statistics: 2013–4. Pediatrics. 2017;139(6). - PubMed
    1. Wellesley D, Dolk H, Boyd PA, et al. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Eur J Hum Genet. 2012;20:521–6. - PMC - PubMed
    1. Hillman SC, McMullan DJ, Hall G, et al. Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2013;41:610–20. - PubMed
    1. Shaffer LG, Rosenfeld JA, Dabell MP, et al. Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound. Prenat Diagn. 2012;32:986–95. - PMC - PubMed

Publication types