Alternatives to Autopsy for Fetal and Early Neonatal (Perinatal) Deaths: Insights from the Wisconsin Stillbirth Service Program

McPherson, Elspeth; Nestoridi, Eirini; Heinke, Dominique; Roberts, Drucilla J.; Fretts, Ruth C.; Yazdy, Mahsa M.; Lin, Angela E.

doi:10.1002/bdr2.1112

Cited by 20 publications

(26 citation statements)

References 39 publications

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“…We excluded from our analyses those National Birth Defects Prevention Study-eligible birth defects which are most often diagnosed based on postnatal signs or symptoms (ie, biliary, small intestinal, colonic, or anorectal atresia and craniosynostosis), poorly identified prenatally and require autopsy or postnatal studies to confirm (ie, cerebellar hypoplasia), difficult to observe on physical exam in small or macerated fetuses (ie, hypospadias, glaucoma, cataracts, anophthalmia or microphthalmia, anotia or microtia, and choanal atresia), or poorly defined (ie, limb deficiency, not otherwise stated). [23][24][25] We further excluded isolated heart defects based on the low sensitivity of prenatal diagnosis during the study period and incomplete cardiology review for a subset of heart defect cases with high detection (eg, hypoplastic left heart syndrome). 23,[26][27][28][29] We considered the birth defect case population to be a cohort of fetuses with birth defects at risk of stillbirth (gestational age at delivery 20 weeks or more or birth weight 500 g or more).…”

Section: Methodsmentioning

confidence: 99%

Risk of Stillbirth for Fetuses With Specific Birth Defects

Heinke¹,

Nestoridi²,

Hernández–Dı́az³

et al. 2019

Obstetrics &Amp; Gynecology

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OBJECTIVE: To estimate the risk of stillbirth (fetal death at 20 weeks of gestation or more) associated with specific birth defects. METHODS: We identified a population-based retrospective cohort of neonates and fetuses with selected major birth defects and without known or strongly suspected chromosomal or single-gene disorders from active birth defects surveillance programs in nine states. Abstracted medical records were reviewed by clinical geneticists to confirm and classify all birth defects and birth defect patterns. We estimated risks of stillbirth specific to birth defects among pregnancies overall and among those with isolated birth defects; potential bias owing to elective termination was quantified. RESULTS: Of 19,170 eligible neonates and fetuses with birth defects, 17,224 were liveborn, 852 stillborn, and 672 electively terminated. Overall, stillbirth risks ranged from 11 per 1,000 fetuses with bladder exstrophy (95% CI 0-57) to 490 per 1,000 fetuses with limb-body-wall complex (95% CI 368-623). Among those with isolated birth defects not affecting major vital organs, elevated risks (per 1,000 fetuses) were observed for cleft lip with cleft palate (10; 95% CI 7-15), transverse limb deficiencies (26; 95% CI 16-39), longitudinal limb deficiencies (11; 95% CI 3-28), and limb defects due to amniotic bands (110; 95% CI 68-171). Quantified bias analysis suggests that failure to account for terminations may lead to up to fourfold underestimation of the observed risks of stillbirth for sacral agenesis (13/1,000; 95% CI 2-47), isolated spina bifida (24/1,000; 95% CI 17-34), and holoprosencephaly (30/1,000; 95% CI 10-68).

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Section: Methodsmentioning

confidence: 99%

Risk of Stillbirth for Fetuses With Specific Birth Defects

Heinke¹,

Nestoridi²,

Hernández–Dı́az³

et al. 2019

Obstetrics &Amp; Gynecology

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“…Systematical study of problems related to perinatal mortality is facilitated by orderly and methodical data collection, guaranteed by a unique method of procedure [1].…”

Section: Discussionmentioning

confidence: 99%

Perinatal Outcome and Multidisciplinary Management

Erra¹

2017

J Biomol Res Ther

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“…These molecular techniques work with very small amounts of tissue and can even be used on some archival samples of formalin-fixed tissues from prior autopsies. Thus, minimally invasive approaches have the potential to expand the use of autopsy by providing revolutionary options for families who are concerned about invasive procedures or potential disfigurement (Table 2; Ben-Sasi et al, 2013; McPherson et al, 2017). …”

Section: Minimally Invasive and Molecular Autopsymentioning

confidence: 99%

“Donating our bodies to science”: A discussion about autopsy and organ donation in Turner syndrome

Prakash¹,

Roman

Crenshaw

et al. 2019

American J of Med Genetics Pt C

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At the Third Turner Resource Network Symposium, a working group presented the results of collaborative discussions about the importance of autopsy in Turner syndrome (TS). Considerable gaps in understanding the causes of death in TS can only be closed by more frequent death investigations and autopsies. The presentation included an overview of autopsy methods, strategies for utilizing autopsy, and biobanking to address research questions about TS, and the role of palliative care in the context of autopsy. This review highlights strategies to promote autopsy and tissue donation, culminating with an action plan to increase autopsy rates in the TS community.

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Alternatives to Autopsy for Fetal and Early Neonatal (Perinatal) Deaths: Insights from the Wisconsin Stillbirth Service Program

Cited by 20 publications

References 39 publications

Risk of Stillbirth for Fetuses With Specific Birth Defects

Risk of Stillbirth for Fetuses With Specific Birth Defects

Perinatal Outcome and Multidisciplinary Management

“Donating our bodies to science”: A discussion about autopsy and organ donation in Turner syndrome

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