Physician estimates of bruise age are highly inaccurate within 24 hours of the actual age of the injury. Large individual variability and poor interrater reliability also suggest that caution must be used when interpreting these estimates. This study supports earlier studies, urging extreme caution in estimating bruise age, even when such estimates are based on direct examination of the injured area.

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Genetic disease and congenital anomalies continue to be a leading cause of neonate mortality and morbidity. A genetic diagnosis in the neonatal intensive care unit (NICU) can be a challenge given the associated genetic heterogeneity and early stage of a disease. We set out to evaluate the outcomes of Medical Genetics consultation in the NICU in terms of cytogenetic and molecular diagnostic rates and impact on management. We retrospectively reviewed 132 charts from patients admitted to the NICU who received a Medical Genetics diagnostic evaluation over a 2 year period. Of the 132 patients reviewed, 26% (34/132) received a cytogenetic or molecular diagnosis based on the Medical Genetics diagnostic evaluation; only 10% (13/132) received a diagnosis during their admission. The additional 16% (21 patients) received their diagnosis following NICU discharge, but based on a genetic test initiated during hospital-stay. Mean time from NICU admission to confirmed diagnosis was 24 days. For those who received a genetic diagnosis, the information was considered beneficial for clinical management in all, and a direct change to medical management occurred for 12% (4/32). For those non-diagnosed infants seen in out-patient follow-up clinic, diagnoses were made in 8% (3/37). The diagnoses made post-discharge from the NICU comprised a greater number of Mendelian disorders and represent an opportunity to improve genetic care. The adoption of diagnostic tools, such as exome sequencing, used in parallel with traditional approaches will improve rate of diagnoses and will have a significant impact, in particular when the differential diagnosis is broad.

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Maternal Cr and CysC may both cross the placenta while BTP may not. Placental crossing of Cr seems to be independent of gestational age. The reasons for the different placental handling of BTP and CysC remain unknown.

In this paper we present the development and evaluation of a parent decision support tool for a neonatal intensive care unit (NICU), known as PPADS or Physician and Parent Decision Support. The NICU interprofessional (IP) team uses advanced technology to care for the sickest infants in the hospital, some at the edge of viability. Many difficult care decisions are made daily for this vulnerable population. The PPADS tool, a computerized decision support system, aims to augment current NICU decision-making by helping parents make more informed decisions, improving physician-parent communication, increasing parent decision-making satisfaction, decreasing conflict, and increasing decision efficiency when faced with ethically challenging situations. The development and evaluation of the PPADS tool followed a five step methodology: assessing the clinical environment, establishing the design criteria, developing the system design, implementing the system, and performing usability testing. Usability testing of the PPADS tool with parents of neonates who have graduated (survived) from a tertiary level NICU demonstrates the usefulness and ease of use of the tool.

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