Objective. The purpose of this study was to explore individuals’ beliefs, values, and experiences surrounding stillbirth evaluation decisions. Design. Qualitative research Setting. University of Utah Health Population. Parents who experienced a stillbirth in the past 5 years (n=19) were interviewed about their experiences and decision to consent or decline postmortem evaluations Methods. Qualitative content analysis Main outcome measures. Barriers and facilitators to parents’stillbirth postmortem decision-making. Results. Participants communicated several facilitators and barriers that contributed to their stillbirth evaluation decision. Reasons for consenting to evaluations were belief in science, background in medicine, altruism, to inform future pregnancies, thinking about preventing another stillbirth, and how patients viewed the care of their stillborn by the medical team. Reasons for declining evaluations were receiving a diagnosis prior to being offered a postmortem evaluation, intent to avoid causing further harm to the baby, interest to spend more time with their baby, and cost of the evaluation. Conclusion. Participants identified stillbirth as one of their most difficult experiences as a parent. Diagnostic and emotional barriers create further challenges to decision-making for stillbirth postmortem evaluations. Parents often rely on inadequate information and personal values and beliefs during this time-sensitive decision process. Decision support for stillbirth evaluations and training for medical providers could benefit parents, may increase stillbirth evaluation uptake, and potentially prevent decisional regret.

Objective To conduct a feasibility whole-genome sequencing (WGS) study in families to identify genetic variants relevant to unexplained pregnancy loss. Methods We conducted a pilot WGS study of four families with recurrent pregnancy loss, including parents, healthy live births, and losses, which included an embryonic loss (<10 weeks’ gestation), fetal deaths (10-20 weeks’ gestation) and stillbirths (≥ 20 weeks’ gestation). We used the Illumina platform for WGS and state-of-the-art protocols to identify single nucleotide variants (SNVs) following various modes of inheritance. Results We identified 87 SNVs involving 75 genes in embryonic loss (n=1), 370 SNVs involving 228 genes in fetal death (n=3), and 122 SNVs involving 122 genes in stillbirth (n=2). Of these, 22 de novo, 6 autosomal dominant and an X-linked recessive SNVs were pathogenic (probability of being loss-of-function intolerant >0.9), impacting known genes (e.g., DICER1, FBN2, FLT4, HERC1, and TAOK1) involved in embryonic/fetal development and congenital abnormalities. Further, we identified missense compound heterozygous SNVs impacting genes (e.g., VWA5B2) in two fetal death samples that were absent from live births and population controls, providing evidence for haplosufficient genes relevant to pregnancy loss. Conclusions In this pilot study, we provide evidence for de novo and inherited SNVs relevant to pregnancy loss. Our findings provide justification for conducting WGS using larger numbers of families and warrant validation by targeted sequencing to ascertain causal variants. Elucidating genes causing pregnancy loss may facilitate the development of risk stratification strategies and novel therapeutics.