Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal.

Single-gene mutations account for more than 6000 diseases, 10% of all pediatric hospital admissions, and 20% of infant deaths. Down syndrome and other aneuploidies occur in more than 0.2% of births worldwide and are on the rise because of advanced reproductive age. Birth defects of genetic origin can be diagnosed in utero after invasive extraction of fetal tissues. Noninvasive testing with circulating cell-free fetal DNA is limited by a low fetal DNA fraction. Both modalities are unavailable until the end of the first trimester. We have isolated intact trophoblast cells from Papanicolaou smears collected noninvasively at 5 to 19 weeks of gestation for next-generation sequencing of fetal DNA. Consecutive matched maternal, placental, and fetal samples (n = 20) were profiled by multiplex targeted DNA sequencing of 59 short tandem repeat and 94 single-nucleotide variant sites across all 24 chromosomes. The data revealed fetal DNA fractions of 85 to 99.9%, with 100% correct fetal haplotyping. This noninvasive platform has the potential to provide comprehensive fetal genomic profiling as early as 5 weeks of gestation.

Wilderness Medical Society practice guidelines for basic wound management in the austere environment: 2014 update.

In an effort to produce best-practice guidelines for wound management in the austere environment, the Wilderness Medical Society convened an expert panel charged with the development of evidence-based guidelines for the management of wounds sustained in an austere (dangerous or compromised) environment. Recommendations are made about several parameters related to wound management. These recommendations are graded based on the quality of supporting evidence and the balance between the benefits and risks or burdens for each parameter according to the methodology stipulated by the American College of Chest Physicians. This is an updated version of the original guidelines published in Wilderness & Environmental Medicine 2014;25(3):295-310.

Wilderness Medical Society practice guidelines for basic wound management in the austere environment.

In an effort to produce best-practice guidelines for wound management in the austere environment, the Wilderness Medical Society convened an expert panel charged with the development of evidence-based guidelines for the management of wounds sustained in an austere (dangerous or compromised) environment. Recommendations are made about several parameters related to wound management. These recommendations are graded based on the quality of supporting evidence and the balance between the benefits and risks or burdens for each parameter according to the methodology stipulated by the American College of Chest Physicians.

Core content for wilderness medicine fellowship training of emergency medicine graduates.

Wilderness medicine is the practice of resource-limited medicine under austere conditions. In 2003, the first wilderness medicine fellowship was established, and as of March 2013, a total of 12 wilderness medicine fellowships exist. In 2009 the American College of Emergency Physicians Wilderness Medicine Section created a Fellowship Subcommittee and Taskforce to bring together fellowship directors, associate directors, and other interested stakeholders to research and develop a standardized curriculum and core content for emergency medicine (EM)-based wilderness medicine fellowships. This paper describes the process and results of what became a 4-year project to articulate a standardized curriculum for wilderness medicine fellowships. The final product specifies the minimum core content that should be covered during a 1-year wilderness medicine fellowship. It also describes the structure, length, site, and program requirements for a wilderness medicine fellowship.