Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Research Briefing
  • Published:

Genomic autopsy offers answers for pregnancy loss and perinatal death

The cause of pregnancy loss or perinatal death often remains unexplained, even following a standard autopsy. Comprehensive genomic investigation of pregnancy loss or perinatal death identifies a cause in over 50% of cases, particularly where congenital abnormalities are present. Causes of stillbirths without congenital abnormalities remain difficult to identify.

This is a preview of subscription content, access via your institution

Access options

Buy this article

Prices may be subject to local taxes which are calculated during checkout

Fig. 1: Diagnostic yield of genomic autopsy.

References

  1. Flenady, V. et al. Stillbirths: recall to action in high-income countries. Lancet 387, 691–702 (2016). This paper presents multinational stillbirth statistics.

    Article  Google Scholar 

  2. Byrne, A. B. et al. Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Sci. Transl. Med. 14, eabm4869 (2022). This paper reports a patient series and animal model.

    Article  CAS  Google Scholar 

  3. Tan, N. B. et al. Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. J. Med. Genet. 59, 511–516 (2021). Data sharing mutations in GNB2 that cause genetic disorder.

    Article  Google Scholar 

  4. Rehm, H. L. et al. ClinGen - the clinical genome resource. N. Engl. J. Med. 372, 2235–2242 (2015). Milestone article for standardization of genetic interpretation.

    Article  CAS  Google Scholar 

Download references

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

This is a summary of: Byrne, A. B. et al. Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nat. Med. https://doi.org/10.1038/s41591-022-02142-1 (2023).

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Genomic autopsy offers answers for pregnancy loss and perinatal death. Nat Med 29, 41–42 (2023). https://doi.org/10.1038/s41591-022-02143-0

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/s41591-022-02143-0

Search

Quick links

Nature Briefing: Translational Research

Sign up for the Nature Briefing: Translational Research newsletter — top stories in biotechnology, drug discovery and pharma.

Get what matters in translational research, free to your inbox weekly. Sign up for Nature Briefing: Translational Research