An uninformative NIPT as an early indicator of cri-du-chat due to a chromosomal 5;18 translocation-An atypical presentation of a rare cytogenetic phenomenon.

We present a patient with cri-du-chat syndrome secondary to a rare cytogenetic mechanism. Our patient was the product of a dichorionic diamniotic twin pregnancy initially flagged with soft markers on ultrasound and uninformative single-nucleotide polymorphism (SNP)-based noninvasive prenatal testing (NIPT) for chromosome 18. Subsequent NIPT using proprietary-targeted amplification methodology returned low risk for chromosomal aneuploidies 13, 18, and 21. Due to postnatal clinical findings, a clinical microarray and chromosomal karyotype confirmed cri-du-chat syndrome due to a de novo psu dic(5;18) (p15.2, p11.32). In this report we focus on these cytogenetic changes and discuss some of the current guidelines for prenatal microarray indications.

Hockey Fans in Training (Hockey FIT): Rationale, design, and baseline characteristics from a cluster randomized controlled trial in men with overweight or obesity.

BACKGROUND: Previous research highlights the need for effective lifestyle interventions for men. Hockey Fans in Training (Hockey FIT) was developed as a pragmatic healthy lifestyle program tailored to men with overweight or obesity. This paper overviews the rationale, program details, and design of a recently completed cluster randomized controlled trial (RCT) of Hockey FIT. Participant engagement and baseline characteristics are also described. METHODS: The RCT evaluated the effectiveness, cost-effectiveness, and implementation of Hockey FIT. Forty-two sites in Canada and the United States were randomized to either the Hockey FIT intervention group or wait-list control group. Participants were men, aged 35-65 years, with a body mass index (BMI) ≥27 kg/m2. Hockey FIT is a group-based, off-ice, in-person healthy lifestyle program, including both a 3-month active phase and a 9-month minimally-supported phase. Outcomes were assessed at baseline, 3, and 12 months. The primary outcome was weight loss at 12 months. RESULTS: The design of the cluster RCT incorporates evaluations of participant health outcomes, program implementation, and broader healthcare system impact. In the RCT, 1397 participants were assessed for eligibility and 997 were enrolled. Most participants heard about the program through social media or hockey team emails. Participants averaged 49 years of age, had BMI values of 35.3 kg/m2, were predominately white, and had varying levels of education. CONCLUSION: The intended audience for Hockey FIT was recruited successfully, however, targeted recruitment to better engage diverse populations is warranted. This paper affords a useful outline for evaluating future lifestyle interventions tailored to men. This trial was registered on August 17, 2018 with ClinicalTrials.gov (identifier: NCT03636282).