Analysis of POC specimens by karyotyping fails in 20-40% of cases. SNP-based CMA is a robust platform, with successful results obtained in >90% of cases. SNP-based CMA can identify aneuploidy, polyploidy, whole-genome homozygosity, segmental genomic imbalances, and maternal cell contamination, thus maximizing sensitivity and decreasing false-negative results. Understanding the etiology of fetal loss enables clarification of recurrence risk and assists in determining appropriate management for future family planning.Genet Med 19 1, 83-89.
Background: Immune responses to vaccination are a known trigger for a new onset of glomerular disease or disease flare in susceptible individuals. Mass immunization against SARS-CoV-2 in the COVID-19 pandemic provides a unique opportunity to study vaccination-associated autoimmune kidney diseases. In the recent literature, there are several case reports demonstrating a temporal association of SARS-CoV-2 immunization and kidney diseases. Methods: Here, we present a series of 29 cases of biopsy-proven glomerular disease in patients recently vaccinated against SARS-CoV-2 and identified patients who developed a new onset of IgA nephropathy, minimal change disease, membranous nephropathy, ANCA-associated glomerulonephritis, collapsing glomerulopathy, and diffuse lupus nephritis diagnosed on kidney biopsies post-immunization, as well as recurrent ANCA-associated glomerulonephritis. This included 28 cases of de novo glomerulonephritis within native kidney biopsies and one disease flare in an allograft. Results: The patients with collapsing glomerulopathy were of African American descent and had two APOL1 genomic risk alleles. A brief literature review of case reports and small series is also provided to include all reported cases to date (n=52). The incidence of induction of glomerular disease in response to SARS-CoV-2 immunization is unknown, however, there was no overall increase in incidence of glomerular disease when compared to the two years prior to the COVID-19 pandemic diagnosed on kidney biopsies in our practice. Conclusions: This suggests that glomerulonephritis in response to vaccination is rare, although should be monitored as a potential adverse event.
43.3%-75.1%).The negative predictive values were 87.5% (95% CI, 2.7%-32.4%) and 77.4% (95% CI, 9.6%-41.1%) for the combination of factors and US findings, respectively.When placenta accreta is suspected in a parturient, clinicians must be prepared for major hemorrhage. If easily reproducible diagnostic factors could be used in a structured predictive model, some women could be removed from the population at risk, thus reserving management decisions and preparations for those women who are most likely to suffer massive hemorrhage. The authors propose that their model could be used as a starting point for other studies that might lead to an improved predictive model.
(Abstracted from Genet Med 2017;19(1):83–89)
High-resolution chromosomal microarray analysis (CMA) with single-nucleotide polymorphism (SNP)–based arrays is increasingly used for pediatric and prenatal diagnoses as they can simultaneously detect aneuploidies, submicroscopic chromosomal imbalances, triploidy, and regions of allelic homozygosity. Overall, 15% to 20% of clinically recognized pregnancies end in miscarriage, and approximately 1% of couples experience recurrent (at least 2) pregnancy losses.
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