RESUMEN
Recent advances in genetics and imaging have ushered in substantial breakthroughs in screening and diagnosis for chromosomal and structural abnormalities. Thus, it is imperative that healthcare providers caring for pregnant individuals should re-examine established practices in prenatal screening and diagnosis. In the past, screening for chromosomal abnormalities was based almost entirely on Down syndrome. Pregnant individuals aged > 35 were considered at "high risk" or of "advanced maternal age" based on age alone; however, the advent of tests with high sensitivity for prenatal detection of chromosomal abnormalities should lead to abandoning that concept, at least from the perspective of chromosomal abnormalities. Given that first-trimester and second-trimester screening will fail to detect between 5 and 20% of Down syndrome, in most situations, non-invasive testing with cell-free DNA should be the first-line screen for Down syndrome. The fact that over 99% of fetuses with Down syndrome will be detected prenatally with cell-free DNA gives other fetal chromosomal and structural abnormalities increasing prominence. Chromosomal microarray analysis (CMA) permits prenatal detection of several clinically important chromosomal aberrations that cannot be detected by karyotype and may exist in structurally normal fetuses with low-risk cell-free DNA screening. As such, CMA should be more readily conducted when invasive testing is performed, regardless of the presence of a structural abnormality. Isolated sonographic "soft markers" have no clinical significance in patients who have normal cell-free DNA screening, can cause unwarranted anxiety and a negative impact on pregnancy, and perhaps it is time to stop discussing them. Detailed first-trimester ultrasound allows early detection of several severe fetal anomalies, and therefore in settings with adequately trained personnel and resources, should be used more frequently. This Opinion traces the evolution of prenatal screening and diagnosis and advocates for a paradigm shift that aligns with recent developments in prenatal screening and diagnostic capabilities.
RESUMEN
Purpose: Oncology clinicians are appropriately positioned to facilitate discussions of assisted reproductive technologies including preimplantation genetic testing for monogenic disease (PGT-M), in the context of cancer treatment or surveillance. Yet, reproductive services, including PGT-M, remain one of the least implemented services in oncology. No studies to date have explored which practice resources the clinicians need to increase knowledge of PGT-M. The objective of this study was to explore the specific needs of oncology clinicians to help maximize the reproductive potential of young adult patients with hereditary cancers. Methods: Participants were recruited through notices circulated on social media platforms and snowball sampling. Participants completed a brief online survey to confirm eligibility. Eligible participants completed a virtual, semi-structured interview. Interviews focused on clinician experiences with PGT-M and initiating referrals to fertility specialists. Thematic analysis was conducted using a constant comparative approach to identify current clinical practices. Results: This study found that PGT-M discussions are not necessarily within the scope of responsibilities for oncology clinicians owing to prioritization of cancer treatment and overall lack of knowledge. Participants need accessible resources and timely support for reproductive planning in the context of cancer treatment. Participants desire a streamlined referral pathway to professionals trained in oncofertility to help address their patient's reproductive needs. Conclusion: Our study identified that educational and referral resources to reproductive specialists are needed to maximize reproductive potential across the cancer continuum. These findings provide a foundation for larger studies that can inform standard-of-care recommendations in the emerging field of oncofertility.
RESUMEN
Cryopreserved vein allografts are used as alternative conduits for infrainguinal bypass but are prone to aneurysmal degeneration. A 60-year-old man presented with a pulsatile, tender right groin mass 2 years after thrombosis of a cryopreserved vein jump graft emanating from a prosthetic axillary to profunda bypass. Intraoperatively, the aneurysm was consistent with isolated dilatation of the hood of the thrombosed cryopreserved vein graft. This was excised and repaired with bovine pericardial patch angioplasty. The patient recovered with no recurrence for 2 years. Aneurysmal degeneration of the cryopreserved vein allograft can occur even after graft thrombosis.
