Management of Stillbirth: Obstetric Care Consenus

No, 10. Obstet Gynecol 2020; 135: e110–e132.

  • Academy of Obstetrics and Gynecology (USA) consensus guidelines regarding the management of stillbirth
  • Most recently updated March 2020 Recommends microarray in all cases of stillbirth
  • Guidelines not yet updated to reflect potential contribution of single gene disorders
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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Nat Med 2023; 29: 180–189.

  • 200 families from diverse sites all offered WES or WGS
  • Stillbirth or euploid loss >13 weeks
  • Definitive or candidate genetic diagnosis in 105 families (58%)
  • Majority of definitive diagnosis were de novo findings in the proband
  • Multiple families used findings for reproductive planning (e.g. preimplantation genetic diagnosis).
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Copy number variants and fetal growth in stillbirths

Am J Obstet Gynecol 2023; 228:579.e1-11

  • 393 stillbirths examined, 16% had abnormal microarray (including aneuploidies)
  • Small for gestational age outcome more common among those with abnormal CNV than in those with a normal microarray
  • Study conducted as a secondary analysis of the Stillbirth Collaborative Network data

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Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics

Genet Med 2023; 100017.

  • Describes considerations in cases postmortem genetic testing of all types
  • Favors DNA banking if logistically possible in cases without a clear etiology
  • Emphasis on importance of phenotyping to guide WES/WGS interpretation
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Fetal phenotypes emerge as genetic technologies become robust.

Prenat Diagn. 2019;39(9):811‐817. https://doi.org/10.1002/pd.5532

  • More robust fetal phenotyping is needed as prenatal sequencing opportunities expand.
  • Pediatric and adult phenotype ontologies exist to provide opportunity for systemic assessment of genotype-phenotype correlations.
  • Cases from two institutions demonstrating the importance of fetal phenotyping are highlighted, demonstrating the growing importance of fetal dysmorphology to better understand prenatal genetic testing results.
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Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis.

BMC Med Genomics 2023; 16: 25.

  • Sixty-one cases with deceased fetuses with ultrasound abnormalities and normal CMA were retrospective examined using WES
  • Twenty-eight cases were positive for 39 total variants (7 VUS)Skeletal system anomalies yielded the highest detection rate (~40%)
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