Rescuing monopronucleated-derived human blastocysts: a model to study chromosomal topography and fingerprinting.

OBJECTIVE: To quantify the percentage of monopronuclear-derived blastocysts (MNBs) that are potentially useful for reproductive purposes using classic and state-of-the-art chromosome analysis approaches, and to study chromosomal distribution in the inner cell mass (ICM) and trophectoderm (TE) for intertissue/intratissue concordance comparison. DESIGN: Prospective experimental study. SETTING: Single-center in vitro fertilization clinic and reproductive genetics laboratory. PATIENT(S): A total of 1,128 monopronuclear zygotes were obtained between June 2016 and December 2018. INTERVENTION(S): MNBs were whole-fixed or biopsied to obtain a portion of ICM and 2 TE portions (TE1 and TE2) and were subsequently analyzed by fluorescence in situ hybridization, new whole-genome sequencing, and fingerprinting by single-nucleotide polymorphism array-based techniques (a-SNP). MAIN OUTCOME MEASURE(S): We assessed MNB rate, ploidy rate, and chromosomal constitution by new whole-genome sequencing, and parental composition by comparative a-SNP, performed in a "trio"-format (embryo/parents). The 24-chromosome distribution was compared between the TE and the ICM and within the TE. RESULT(S): A total of 18.4% of monopronuclear zygotes progressed to blastocysts; 77.6% of MNBs were diploid; 20% of MNBs were male and euploid, which might be reproductively useful. Seventy-five percent of MNBs were biparental and half of them were euploid, indicating that 40% might be reproductively useful. Intratissue concordance (TE1/TE2) was established for 93.3% and 73.3% for chromosome matching. Intertissue concordance (TE/ICM) was established for 78.8%, but 57.6% for chromosome matching. When segmental aneuploidy was not considered, intratissue concordance and chromosome matching increased to 100% and 80%, respectively, and intertissue concordance and chromosome matching increased to 84.8% and 75.8%, respectively. CONCLUSION(S): The a-SNP-trio strategy provides information about ploidy, euploidy, and parental origin in a single biopsy. This approach enabled us to identify 40% of MNBs with reproductive potential, which can have a significant effect in the clinical setting. Additionally, segmental aneuploidy is relevant for mismatched preimplantation genetic testing of aneuploidies, both within and between MNB tissues. Repeat biopsy might clarify whether segmental aneuploidy is a prone genetic character.

Reproducibility and Reliability of the Quality of Life Questionnaire in Patients With Atrial Fibrillation.

BACKGROUND: Studies have shown the impact of atrial fibrillation (AF) on the patients' quality of life. Specific questionnaires enable the evaluation of relevant events. We previously developed a questionnaire to assess the quality of life of patients with AF (AFQLQ version 1), which was reviewed in this study, and new domains were added. OBJECTIVE: To demonstrate the reproducibility of the AFQLQ version 2 (AFQLQ v.2), which included the domains of fatigue, illness perception and well-being. METHODS: We applied 160 questionnaires (AFQLQ v.2 and SF-36) to 40 patients, at baseline and 15 days after, to measure inter- and intraobserver reproducibility. The analysis of quality of life stability was determined by test-retest, applying the Bartko intraclass correlation coefficient (ICC). Internal consistency was assessed by Cronbach's alpha test. RESULTS: The total score of the test-retest (n = 40) had an ICC of 0.98 in the AFQLQ v.2, and of 0.94 in the SF36. In assessing the intra- and interobserver reproducibility of the AFQLQ v.2, the ICC reliability was 0.98 and 0.97, respectively. The internal consistency had a Cronbach's alpha coefficient of 0.82, compatible with good agreement of the AFQLQ v.2. CONCLUSION: The AFQLQ v.2 performed better than its previous version. Similarly, the domains added contributed to make it more comprehensive and robust to assess the quality of life of patients with AF.

Reproducibility and Reliability of the Quality of Life Questionnaire in Patients With Atrial Fibrillation / Reprodutibilidade e Confiabilidade do Questionário de Qualidade de Vida em Portadores de Fibrilação Atrial

Abstract Background: Studies have shown the impact of atrial fibrillation (AF) on the patients' quality of life. Specific questionnaires enable the evaluation of relevant events. We previously developed a questionnaire to assess the quality of life of patients with AF (AFQLQ version 1), which was reviewed in this study, and new domains were added. Objective: To demonstrate the reproducibility of the AFQLQ version 2 (AFQLQ v.2), which included the domains of fatigue, illness perception and well-being. Methods: We applied 160 questionnaires (AFQLQ v.2 and SF-36) to 40 patients, at baseline and 15 days after, to measure inter- and intraobserver reproducibility. The analysis of quality of life stability was determined by test-retest, applying the Bartko intraclass correlation coefficient (ICC). Internal consistency was assessed by Cronbach's alpha test. Results: The total score of the test-retest (n = 40) had an ICC of 0.98 in the AFQLQ v.2, and of 0.94 in the SF36. In assessing the intra- and interobserver reproducibility of the AFQLQ v.2, the ICC reliability was 0.98 and 0.97, respectively. The internal consistency had a Cronbach's alpha coefficient of 0.82, compatible with good agreement of the AFQLQ v.2. Conclusion: The AFQLQ v.2 performed better than its previous version. Similarly, the domains added contributed to make it more comprehensive and robust to assess the quality of life of patients with AF.

Resumo Fundamento: Estudos demonstraram o impacto da fibrilação atrial (FA) na qualidade de vida dos pacientes. Questionários específicos permitem avaliar manifestações pertinentes. Desenvolvemos anteriormente questionário de qualidade de vida para FA (QVFA versão 1) e, neste estudo, apresentamos reanálise e adições de novos domínios. Objetivo: Demonstrar a reprodutibilidade do QVFA na versão 2 (QVFA v.2) com a inclusão dos domínios fadiga, percepção da doença e bem-estar. Métodos: Foram aplicados 160 questionários (QVFA v.2 e SF-36) em 40 pacientes com intervalos de 15 dias para mensuração da reprodutibilidade inter- e intra-observador. A análise de estabilidade da qualidade de vida foi determinada pelo teste-reteste, aplicando o coeficiente de correlação intraclasse (CCI) de Bartko. A consistência interna foi avaliada pelo teste alfa de Cronbach. Resultados: O escore total do teste-reteste (n=40) apresentou CCI de 0,98 no QVFA v.2 e de 0,94 no SF36. Na avaliação intra-observador e inter-observador do QVFA v.2, a confiabilidade do CCI foi de 0,98 e 0,97, respectivamente. Para a análise da consistência interna, obteve-se um coeficiente alfa de Cronbach de 0,82, compatível com boa concordância do QFVA v.2. Conclusão: O QVFA v.2 apresentou melhor desempenho em relação à versão anterior. No mesmo sentido, os domínios acrescentados contribuíram para torná-lo mais abrangente e robusto para avaliar a qualidade de vida de pacientes com FA.