Application of Optical Genome Mapping Technology in Detecting Complex Chromosomal Rearrangement / 中山大学学报(医学科学版)

ObjectiveTo investigate the application of optical genome mapping （OGM） technology in detecting complex chromosomal rearrangement. MethodsWe recruited five patients who were diagnosed as complex chromosomal rearrangement at the Reproductive Medicine Center of the Sixth Affiliated Hospital of Sun Yat-sen University from January 2022 to June 2023. They underwent OGM， nanopore sequencing and pre-implantation genetic testing （PGT）. The results were compared with the results of karyotype and chromosomal microarray analysis （CMA）/ copy number variation sequencing （CNV-Seq）. ResultsOGM could detect translocation， invert inversion， and triplet translocation， which were consistent with the results of OGM and CMA/ CNV-Seq. But OGM could not detect Robertsonian translocation. ConclusionBecause of its ultra-long reads， OGM realizes the detection across repetitive regions， and it has great advantages when applied in patients with complex chromosome rearrangement or uncertain karyotype analysis. It can accurately locate breakpoints.

Predictive factors for the successful implantation and live birth after Euploid Blastocyst Transfer: A single center study

Background@#Pre-implantation Genetic Testing for Aneuploidy (PGT-A) has enabled IVF specialists to screen embryos for abnormalities in chromosome number and structure. Subsequently, healthy embryos are selected for transfer, decreasing the rate of spontaneous miscarriages and improving pregnancy outcomes. In spite of this, almost only half of the PGTdetermined euploid embryos result in a pregnancy. @*Objective@#This study aimed to determine what other factors among euploid embryo transfers will have an association with successful implantation and live birth. @*Methods@#This study retrospectively analyzed 159 IVF-PGS cycles performed in CARMI SLMCGC from January 2017 to December 2019. Of these, a total of 231 euploid embryos (86 single embryo transfers and 73 double embryo transfers) were assessed. The relationship of eight predictive variables (maternal age, maternal BMI, etiology of infertility, history of failed IVF, blastocyst expansion stage, ICM grade, TE grade and endometrial thickness on transfer) with regard to the outcome of successful implantation and live birth among single or double euploid blastocyst transfers were determined via logistic regression analysis. @*Results@#Overall, the implantation rate was significantly lower when using B-grade ICM or C-grade ICM blastocysts as compared to A-grade ICM blastocysts (OR 0.54, 95% CI 0.356- 0.815, p = 0.003). With regard to live birth rate, the success of transfer is statistically lower when using a B-grade or C-grade ICM blastocysts as compared to A-grade ICM blastocysts (OR 0.55, CI 0.354-0.863, p = 0.009). Other predictive factors such as maternal age, maternal BMI, etiology of infertility, number of previous IVF, blastocyst expansion stage, trophectoderm grade and endometrial thickness had no apparent effect on the outcome of implantation and live birth. @*Conclusion@#Present study results suggest that only the ICM grade of euploid blastocysts correlates with implantation and live birth in IVF-FET cycles. Therefore, the selection of euploid blastocysts based on the presence of a higher grade ICM is the most predictive factor that determines success among those undergoing IVF with PGT-A.

Aportes éticos y jurídicos para la discusión sobre el diagnóstico genético preimplantacional / Ethical and legal contributions to the discussion on preimplantation genetic diagnosis / Contribuições éticas e jurídicas para a discussão sobre o diagnóstico genético pré-implantacional

Resumen El diagnóstico genético preimplantacional introduce importantes preguntas éticas y jurídicas; entonces, .cuales son los criterios que se deben tener en cuenta? En esta investigación se describen los límites que han considerado algunas legislaciones a la hora de regular esta técnica. Adicionalmente, se analizan fallos que se han pronunciado sobre problemas jurídicos causados por su aplicación, entre ellos, el error en el diagnóstico.

Abstract Preimplantation genetic diagnosis generates a series of ethical and legal questions: Which goals does it pursue? Does it protect the embryo? Should this technique be regulated by the legal system? And if so, which is the incumbent criteria? This research describes the limits that some international laws regulating this technique have considered. Additionally, a series of judgments about the legal problems that have occurred with the application of this technique will be analyzed, among them, the misdiagnosis.

Resumo O diagnóstico genético pré-implantacional introduz importantes perguntas éticas e jurídicas. Então, quais são os critérios que devem ser levados em consideração? Nesta pesquisa, são descritos os limites que algumas legislações têm considerado na hora de regulamentar essa técnica. Adicionalmente, analisam-se falhas que foram ressaltadas sobre problemas jurídicos causados pela sua aplicação, entre eles, o erro no diagnóstico.

The ethical-normative gap in the Brazilian regulation of assisted reproductive techniques: the instrumentalization of human embryos for medical-scientistic knowledge through pre-implantation genetic diagnosis / El vacío ético-normativo en la reglamentación brasileña de las técnicas de reproducción asistida: la instrumentalización del embrión humano por el saber médico-cientificista a través del diagnóstico genético pre-implantacional / O vazio ético-normativo na regulamentação brasileira das técnicas de reprodução assistida: a instrumentalização do embrião humano pelo saber médico-cientificista através do diagnóstico genético pré-implantacional

This paper pursues a better interpretation of new reproductive technologies by making a counterpoint to the scientistic bias of bills being processed in a country that excels in defending the interests of professionals, especially in clinics and laboratories, disregarding the new person generated. The social and scientific relevance of the subject is to reflect on the necessity of attention and caution in the implementation of the new technologies for breeding. Today, technological advancement is closely tied to the means of acquiring power and lacks evaluative constructs. There is a risk of disrespecting constitutional rights. The primary objective of this research is to seek a new valuation of human, social and juristic scientific and technological innovations in the field of assisted reproduction. To attain this end, we will adopt the content analysis methodology, taking as theoretical framework the concept of person developed by Robert Spaemann.

El presente artículo busca una mejor interpretación de las nuevas tecnologías reproductivas contraponiendo al sesgo cientificista de los proyectos de ley en tramitación en un país que priman por la defensa de los intereses de los profesionales, en especial clínicas y laboratorios, desconsiderando los derechos del nuevo ser generado. La relevancia social y científica del tema está en reflexionar acerca de la necesidad de atención y cautela en el implemento de las nuevas tecnologías destinadas a la reproducción. Hoy, el avance tecnológico está íntimamente vinculado a los medios de adquisición de poder y carece de construcciones valorativas. El objetivo precoz de este trabajo está en buscar una nueva valoración humana, social y jurídica de las innovaciones científicas y tecnológicas en el campo de la reproducción asistida. Para la persecución de este fin, se adoptó como metodología el análisis de contenido, tomando por marco teórico el concepto de persona desarrollado por Robert Spaemann.

O presente artigo busca uma melhor interpretação das novas tecnologias reprodutivas contrapondo-se ao viés cientificista dos projetos de lei em tramitação no país que primam pela defesa dos interesses dos profissionais, em especial clínicas e laboratórios, desconsiderando os direitos do novo ser gerado. A relevância social e científica do tema está em se refletir acerca da necessidade de atenção e cautela no implemento das novas tecnologias destinadas à reprodução. Hoje, o avanço tecnológico está intimamente vinculado aos meios de aquisição de poder e carece de construções valorativas. O objetivo precípuo deste trabalho está em buscar uma nova valoração humana, social e jurídica das inovações científicas e tecnológicas no campo da reprodução assistida. Para persecução deste fim, foi adotada como metodologia a análise de conteúdo, tomando-se por marco teórico o conceito de pessoa desenvolvido por Robert Spaemann.

Microdissection testicular sperm extraction for patients with non-mosaic Klinefelter's syndrome: An update / 中华男科学杂志

Klinefelter's syndrome (KS) is a most frequent sex chromosomal disorder in males, which is characterized by hypogonadism and infertility. The development of assisted reproductive technology has made it possible for KS males to father children. Microdissection testicular sperm extraction (mTESE) is widely considered to be the best method for sperm retrieval in KS patients. This article presents an overview on mTESE for men with non-mosaic KS in the aspects of its predictors, sperm retrieval rate, operation procedure, preoperative hormonal therapy, and postoperative complications and testosterone reduction.

Consideraciones bioéticas y jurídicas sobre la biotecnología con fines eugenésicos / Considerações bioéticas e jurídicas sobre a biotecnologia com finalidades eugenésicas / Bioethical and legal considerations about biotechnology with eugenic goals

Los nuevos avances biotecnológicos vinculados con la reproducción plantean cuestiones bioético-jurídicas de no poca envergadura. En efecto, a medida que las posibilidades reproductivas proliferan, también lo hacen los conflictos éticos relacionados con el favorecimiento de la eugenesia: la selección de embriones, la selección de sexo de la persona que va a nacer, el uso de personas con finalidad terapéutica para terceros. En este artículo se analizarán los aspectos bioéticos en conflicto, sin olvidar la regulación jurídica que existe al respecto de estas prácticas biotecnológicas vinculadas con la reproducción.

New biotechnology achievements linked to reproduction raises bioethical-legal questions of great importance. Indeed, as reproductive possibilities proliferate, ethical conflicts proliferate as well favoring eugenics: embryo selection, sex selection of the person to be born, use of persons with therapeutic end for others. In this article, bioethical issues in conflict will be analyzed, not forgetting existing legal regulation of these biotechnological practices linked to reproduction.

Os novos avanços biotecnológicos vinculados com a reprodução propõem questões bioético-jurídicas de não pouca envergadura. Com efeito, a medida que as possibilidades reprodutivas proliferam, também o fazem os conflitos éticos relacionados com o favorecimento da eugenesia: a seleção de embriões, a seleção de sexo da pessoa que vai nascer, o uso de pessoas com finalidade terapêutica para terceiros. Neste artigo se analisarão os aspectos bioéticos em conflito, sem esquecer a regulamentação jurídica que existe a respeito destas práticas biotecnológicas vinculadas com a reprodução.

Experience in nursing of patients with Robertsonian translocation receiving pre-implantation genetic diagnosis / 中国实用护理杂志

Objective We sought to summarize the experience in nursing the patients of Robertsonian translocation receiving pre-implantation genetic diagnosis (PGD).Methods Thirty-eight patients with Robertsonian translocation received PGD.These patients received health education and psychological nursing except for routine therapy and nursing.Results All these patients had no obvious negative emotion and complied with the therapy.Nine patients were successfully pregnant and pregnancy rate was 23.7％,7 of them delivered healthy neonates.Conclusions Health education,psychology nursing together with controlled ovarian stimulation,egg retrieval and embryonic transplantation can reduce negative emotion,improve compliance of therapy,and benefit the process of PGD and clinical outcomes.

Perspectivas de uso da hibridizacão genômica comparativa como rastreamento pré-implantacional em biópsias de embrião humano no estágio de blastocisto / Prospects of using comparative genomic hybridization in blastocyst stage human embryo biopsy as pre-implantation genetic screening

O rastreamento genético pré-implantacional parece melhorar as taxas de gravidez em certos grupos de pacientes com mau prognóstico nos tratamentos de fertilização in vitro. Mais recentemente tem-se sugerido seu uso para a seleção visando à transferência de um embrião único. O presente artigo tem como objetivo discorrer sobre a técnica de hibridização genômica comparativa, a biópsia do embrião na fase de blastocisto e as perspectivas de uso desses como rastreamento genético pré-implantacional. Foi feita revisão bibliográfica em artigos científicos, livros e periódicos. O método de hibridização genômica comparativa é capaz de analisar todos os pares cromossômicos e mostra-se promissor na identificação das aneuploidias. A biópsia do embrião na fase de blastocisto parece ser menos agressiva e fornece mais material genético do que aquela feita na fase de clivagem. A transferência de um embrião geneticamente normal aumenta as chances de gravidez nos procedimentos de fertilização in vitro. Entretanto, ainda não temos estudos randomizados controlados suficientes para assegurar que a hibridização genômica comparativa em blastocisto tenha impacto prático suficiente para aumentar as chances de gravidez.

Pre-implantation genetic screening could improve pregnancy rates in certain groups of patients with poor prognosis undergoing in vitro fertilization procedures. Recently its use as screening has been suggested aiming single embryo transfers. This paper evaluates comparative genomic hybridization technique, blastocyst stage embryo biopsy and analyzes the prospects of using both as pre-implantation genetic screening. A bibliographical review in scientific articles, books, journals and websites was done. Comparative genomic hybridization is able to analyze all chromosomes being promising as pre-implantation genetic screening. Blastocyst biopsy seems to be less aggressive to the embryo and provides additional genetic material compared to cleavage stage biopsies. The transfer of a genetically normal embryo increases pregnancy rates in in vitro fertilization procedures. However there are insufficient randomized controlled trials to ensure that comparative genomic hybridization in blastocysts cells has a practical impact in pregnancy rates.

Ethical Speculation on Pre-implantation Genetic Diagnosis / 中国医学伦理学

Pre-implantation Genetic Diagnosis(PGD) is an advanced technology based on in-vitro fertility-embryo transfer,which binds multiple-discipline arts,specially the research on DNA analysis assay of single cell,to reach the aim of aristogenesis and wash out abnormal embryo before transfer.With the development of this technique and the ever wider applications,ethical issues also arise.This paper focuses on these ethical issues related to PGD,expecting an actual benefit for human.