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