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Preimplantation genetic diagnosis for Down syndrome pregnancy 被引量:2
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作者 ZHANG Yu XU Chen-ming ZHU Yi-min DONG Min-yue QIAN Yu-li JIN Fan HUANG He-feng 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2007年第7期515-521,共7页
Objective: To evaluate the effect of preimplantation genetic diagnosis (PGD) conducted for women who had Down syndrome pregnancy previously. Methods: Trisomy 21 was diagnosed by using fluorescence in site hybridizatio... Objective: To evaluate the effect of preimplantation genetic diagnosis (PGD) conducted for women who had Down syndrome pregnancy previously. Methods: Trisomy 21 was diagnosed by using fluorescence in site hybridization (FISH) before embryo transfer in two women who had Down syndrome pregnancies. Each received one or two PGD cycles respectively. Results: Case 1: one PGD cycle was conducted, two oocytes were fertilized and biopsied. One embryo is of trisomy 21 and the other of monosomy 21. No embryo was transferred. Case 2: two PGD cycles were conducted, in total, sixteen oocytes were fertilized and biopsied. Four embryos were tested to be normal, six of trisomy 21, and one of monosomy 21. Five had no signal. Four normal embryos were transferred but no pregnancy resulted. Conclusion: For couples who had pregnancies with Down syndrome pre-viously, PGD can be considered, and has been shown to be an effective strategy. 展开更多
关键词 Down syndrome Fluorescence in site hybridization (FISH) preimplantation genetic diagnosis (pgd
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Preimplantation genetic diagnosis and the biopsy technique: Important considerations
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作者 Ermanno Greco Gemma Fabozzi +2 位作者 Alessandra Ruberti Daniela Zavaglia Maria Giulia Minasi 《Advances in Reproductive Sciences》 2013年第2期7-14,共8页
Preimplantation genetic diagnosis allows to test the genetic status of embryos prior to implantation. In order to obtain genetic material, on which carry out a genetic diagnosis, a procedure named embryo biopsy is req... Preimplantation genetic diagnosis allows to test the genetic status of embryos prior to implantation. In order to obtain genetic material, on which carry out a genetic diagnosis, a procedure named embryo biopsy is required. In the last two decades, embryo biopsy at the cleavage stage has been the mostly performed procedure. However, recently, alternative methods allowing the retrieval of a larger number of cells (blastocyst stage biopsy), or representing a valid alternative to overcome ethical issues (polar body biopsy) have obtained increasing consensus. This article reviews different methods of embryo biopsy and points out their positive and negative aspects. 展开更多
关键词 preimplantation genetic diagnosis screening POLAR Body EMBRYO BLASTOCYST BIOPSY
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Research advance of preimplantation genetic diagnosis
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作者 AI Yang ZHANG Mengmeng GUO Yibin 《分子诊断与治疗杂志》 2011年第1期1-5,共5页
Preimplantation genetic diagnosis (PGD), as a new assisted reproductive technology which can select normal embryos for transplantation combined with in-vitro fertilization and embryo transfer(IVF-ET)through the analys... Preimplantation genetic diagnosis (PGD), as a new assisted reproductive technology which can select normal embryos for transplantation combined with in-vitro fertilization and embryo transfer(IVF-ET)through the analysis of genetic materials before embryo implantation, holds a more and more important position in the diagnosis of genetic diseases and has made an important significance to the Aristogenics.PGD is an important aspect of assisted reproduction technology(ART)with its rapid development. Continuous appearances and comprehensive applications of new methods and technologies have greatly developed the PGD. In this review, we introduce some new methods and their principles about the new research advances of PGD. 展开更多
关键词 医学研究 基因 诊断方法 分子技术
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Advances in preimplantation genetic diagnosis/screening 被引量:3
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作者 YAN LiYing WEI Yuan +9 位作者 HUANG Jin ZHU XiaoHui SHI XiaoDan XIA Xi YAN Jie LU CuiLing LIAN Ying LI Rong LIU Ping QIAO Jie 《Science China(Life Sciences)》 SCIE CAS 2014年第7期665-671,共7页
Preimplantation genetic diagnosis(PGD)gives couples who have a high risk of transmitting genetic disorders to their baby the chance to have a healthy offspring through embryo genetic analysis and selection.Preimplanta... Preimplantation genetic diagnosis(PGD)gives couples who have a high risk of transmitting genetic disorders to their baby the chance to have a healthy offspring through embryo genetic analysis and selection.Preimplantation genetic screening(PGS)is an effective method to select euploid embryos that may prevent repeated implantation failure or miscarriage.However,how and to whom PGS should be provided is a controversial topic.The first successful case of PGD of a human being was reported in 1990,and there have been tremendous improvements in this technology since then.Both embryo biopsy and genetic technologies have been improved dramatically,which increase the accuracy and expand the indications of PGD/PGS. 展开更多
关键词 preimplantation genetic diagnosis preimplantation genetic screening INDICATIONS biopsy methods array comparative genomic hybridization next-generation sequencing
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A New Next-Generation Sequencing-Based Assay for Concurrent Preimplantation Genetic Diagnosis of Charcot-Marie-Tooth Disease Type 1A and Aneuploidy Screening 被引量:1
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作者 Baoheng Gui Pu Yang +6 位作者 Zhongyuan Yao Yanping Li Donge Liu Nenghui Liu Sijia Lu Desheng Liang Lingqian Wu 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2016年第3期155-159,共5页
Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy, with a population prevalence of 1 in 2500. CMT disease type 1A (CMT1A), accounting for ~70% of CMT1 cases and ~ 50% of all CMT cases, is ... Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy, with a population prevalence of 1 in 2500. CMT disease type 1A (CMT1A), accounting for ~70% of CMT1 cases and ~ 50% of all CMT cases, is transmitted in an autosomal dominant manner. CMT1A maps to chromo- some 17pl 1.2 and is caused, in the majority of cases, by a 1.4- Mb tandem duplication that includes the peripheral myelin protein22 (PMP22) gene (Li et al., 2013). The disease usually presents in the first 20 years of age, causing difficulty in walking or running, distal symmetrical muscle weakness and wasting, and sensory loss (van Paassen et al., 2014). 展开更多
关键词 A New Next-Generation Sequencing-Based Assay for Concurrent preimplantation genetic diagnosis of Charcot-Marie-Tooth Disease Type 1A and Aneuploidy screening CNVs
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121个染色体平衡易位携带者PGD周期COH的卵巢反应性分析 被引量:2
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作者 郑叶 张楚 +2 位作者 颜军昊 唐蓉 陈子江 《现代妇产科进展》 CSCD 2014年第3期165-170,共6页
目的:探讨常染色体平衡易位对女性携带者控制性超促排卵(COH)中卵巢反应性的影响。方法:回顾分析于我院行胚胎植入前遗传学诊断(PGD)的109对常染色体平衡易位夫妇,共121个周期,其中夫妇中仅女方为平衡易位携带者56例(63个周期,研究组),... 目的:探讨常染色体平衡易位对女性携带者控制性超促排卵(COH)中卵巢反应性的影响。方法:回顾分析于我院行胚胎植入前遗传学诊断(PGD)的109对常染色体平衡易位夫妇,共121个周期,其中夫妇中仅女方为平衡易位携带者56例(63个周期,研究组),包括罗伯逊易位携带者23例(27个周期),相互易位携带者33例(36个周期);夫妇中仅男方为平衡易位携带者53例(58个周期,对照组),包括罗伯逊易位携带者30例(32个周期),相互易位携带者23例(26个周期)。分析COH过程中,研究组和对照组的女方卵巢反应性指标和妊娠结局。结果:两组的女方年龄、体重指数(BMI)、基础内分泌及窦卵泡数(AFC)均无显著差异(P>0.05)。两组的卵巢反应性指标,包括Gn总量、HCG注射日E2水平、获卵数、D3胚胎数、可移植胚胎数及移植胚胎数,以及移植周期临床妊娠率、早期流产率及种植率均无显著差异(P>0.05)。单独就罗伯逊易位携带者或相互易位携带者而言,两组的各指标均无显著差异。排除可能影响COH卵巢反应性的女方因素,研究组与对照组的各指标均无显著差异。结论:染色体平衡易位,包括罗伯逊易位或相互易位并不影响COH中的卵巢反应性。应将染色体平衡易位女性携带者视为正常卵巢反应性,采用合适剂量的促性腺激素进行控制性促排卵。 展开更多
关键词 染色体平衡易位 控制性超促排卵(COH) 卵巢反应性 胚胎植入前遗传学诊断(pgd) 罗伯逊易位 相互易位
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NICS与PGD检测胚胎染色体罗氏易位一致性的研究 被引量:3
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作者 胡静 张琼芬 凡姝 《中国妇幼健康研究》 2022年第1期152-157,共6页
目的探讨无创胚胎染色体筛查技术(NICS)与植入前遗传学诊断(PGD)检测胚胎染色体罗氏易位结果的一致性,为临床产前筛查提供理论借鉴。方法选取2018年5月至2021年3月在云南大学附属医院行体外受精-胚胎移植不孕妇女的临床资料84例进行研究... 目的探讨无创胚胎染色体筛查技术(NICS)与植入前遗传学诊断(PGD)检测胚胎染色体罗氏易位结果的一致性,为临床产前筛查提供理论借鉴。方法选取2018年5月至2021年3月在云南大学附属医院行体外受精-胚胎移植不孕妇女的临床资料84例进行研究,其配偶生殖功能正常,从胚胎营养液中提取样本分别行NICS、PGD检测,并进行比较分析。结果染色体异常主要集中在8、16、22号染色体上。NICS、PGD在检测染色体结构异常和染色体数量异常方面的阴性率与阳性率比较差异均有统计学意义(χ^(2)值分别为65.168、32.747;37.249、34.161,P<0.05);NICS、PGD在检测染色体结构异常和染色体数量异常方面具有一致性(Z=-0.243,P=0.808;Z=-1.000,P=0.317)。NICS、PGD在检测正常或者易位染色体和完全新发染色体异常的阳性率与阴性率鉴别检查比较差异均有统计学意义(χ^(2)值分别为17.155、9.972、15.786、6.364,P<0.05)。NICS、PGD在检测染色体罗氏易位类型方面具有一致性(Z=0.059,P=0.808)。受试者工作特征(ROC)曲线分析诊断效能显示:NICS和PGD的AUC(Z=-1.000,P=0.317)、灵敏度(χ^(2)=2.000,P=0.157)、特异度(χ^(2)=2.000,P=0.157)比较差异均无统计学意义。结论 NICS、PGD检测胚胎染色体罗氏易位均有效,适用于临床。 展开更多
关键词 无创胚胎染色体筛查技术 植入前遗传学诊断 胚胎染色体罗氏易位 一致性
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高孕激素下促排卵方案与黄体期长方案用于平衡易位PGD周期治疗效果的比较 被引量:3
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作者 彭佳丽 李风和 +2 位作者 李洁 程丹 肖卓妮 《中国性科学》 2019年第10期41-45,共5页
目的探讨高孕激素下促排卵方案和黄体期长方案对平衡易位携带行PGD周期治疗效果的比较。方法回顾性分析2016年5月至2018年4月在武汉大学人民医院生殖医学中心因染色体平衡易位行PGD助孕的51例患者的临床资料,根据患者促排卵方案的不同... 目的探讨高孕激素下促排卵方案和黄体期长方案对平衡易位携带行PGD周期治疗效果的比较。方法回顾性分析2016年5月至2018年4月在武汉大学人民医院生殖医学中心因染色体平衡易位行PGD助孕的51例患者的临床资料,根据患者促排卵方案的不同将其分为高孕激素下促排卵方案组(PPOS方案组)和黄体期长方案组(LP方案组),其中PPOS方案组24例患者,LP方案组27例患者。比较两组患者的一般特点、促排卵情况、胚胎发育情况和子代胚胎染色体情况。结果两组患者的一般情况,包括双方年龄、不孕年限、BMI、基础窦卵泡数、基础FSH、基础LH、FSH/LH比值和基础E2比较,其差异均无统计学意义(均P>0.05)。促排卵过程中,PPOS方案组患者促排天数显著低于LP方案组患者(9.21±1.67 vs 11.22±2.87,P=0.003),PPOS方案组患者获卵数少于LP方案组患者[10.50(8.25,17.50)vs 14.00(12.00,20.00),P=0.096)],PPOS方案组患者M2卵子数少于LP方案组患者[9.50(7.00,13.00) vs 12.00(8.00,18.00),P=0.219)],PPOS方案组患者2PN数少于LP方案组患者[8.00(6.00,12.00) vs 9.00(5.00,14.00),P=0.583)],PPOS方案组患者第5天囊胚比例高于LP方案组患者(56.12%vs 45.65%,P=0.149),两组差异均无统计学意义;但PPOS方案组患者可活检囊胚形成率显著高于LP方案组患者(44.34%vs 34.40%,P=0.023),其差异具有统计学意义。两组患者胚胎染色体形成情况中,正常/平衡胚胎比例(32.65%vs 36.08%,P=0.614))、不平衡胚胎比例(40.82%vs 32.99%,P=0.495))、非整倍体胚胎比例(37.76%vs 41.24%,P=0.619))等比较,其差异均无统计学意义。2种方案均有约30%的患者无可移植胚胎(29.17%vs 29.63%,P=0.971)。结论对于染色体平衡易位行PGD助孕的患者,PPOS方案能够获得与黄体期长方案相似的促排卵效果,而且可活检囊胚形成率更高。通过分析二代测序结果显示,PPOS方案对子代染色体形成没有不利影响。所以,对于染色体平衡易位行PGD助孕的患者,PPOS方案是一种更为经济合理的促排卵方案。 展开更多
关键词 染色体相互易位 PPOS方案 黄体期长方案 胚胎植入前遗传学诊断 二代测序
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Reproductive management through integration of PGD and MPS-based noninvasive prenatal screening/diagnosis for a family with GJB2-associated hearing impairment 被引量:16
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作者 XIONG WenPing WANG DaYong +26 位作者 GAO Yuan GAO Ya WANG HongYang GUAN Jing LAN Lan YAN JunHao ZONG Liang YUAN Yuan DONG Wei HUANG SeXin WU KeLiang WANG YaoShen WANG ZhiLi PENG HongMei LU YanPing XIE LinYi ZHAO Cui WANG Li ZHANG QiuJing GAO Yun LI Na YANG Ju YIN ZiFang HAN Bing WANG Wei CHEN Zi-Jiang WANG QiuJu 《Science China(Life Sciences)》 SCIE CAS CSCD 2015年第9期829-838,共10页
A couple with a proband child of GJB2 (encoding the gap junction protein connexin 26)-associated hearing impairment and a previous pregnancy miscarriage sought for a reproductive solution to bear a healthy child. Ou... A couple with a proband child of GJB2 (encoding the gap junction protein connexin 26)-associated hearing impairment and a previous pregnancy miscarriage sought for a reproductive solution to bear a healthy child. Our study aimed to develop a cus- tomized preconception-to-neonate care trajectory to fulfill this clinical demand by integrating preimplantation genetic diagno- sis (PGD), noninvasive prenatal testing (NIPT), and noninvasive prenatal diagnosis (N1PD) into the strategy. Auditory and ge- netic diagnosis of the proband child was carried out to identify the disease causative mutations. The couple then received in-vitro-fertilization treatment, and eight embryos were obtained for day 5 biopsy. PGD was performed by short-tandem-repeat linkage analysis and Sanger sequencing of GJB2 gene. Transfer of a GJB2c.235delC heterozygous embryo resulted in a sin- gleton pregnancy. At the 13th week of gestation, genomic DNA (gDNA) from the trio family and cell-free DNA (cfDNA) from maternal plasma were obtained for assessment of fetal chromosomal aneuploidy and GJB2 mutations. NIPT and NIPD showed the absence of chromosomal aneuploidy and GJB2-associated disease in the fetus, which was later confirmed by inva- sire procedures and postnatal genetic/auditory diagnosis. This strategy successfully prevented the transmission of hearing im- pairment in the newborn, thus providing a valuable experience in reproductive management of similar cases and potentially other monogenic disorders. 展开更多
关键词 preimplantation genetic diagnosis(pgd) noninvasive prenatal testing(NIPT) noninvasive prenatal diagnosis(NIPD) GJB2(encoding the
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Pregnancy and child developmental outcomes after preimplantation genetic screening: a meta-analytic and systematic review 被引量:1
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作者 Misaki N.Natsuaki Laura M.Dimler 《World Journal of Pediatrics》 SCIE CAS CSCD 2018年第6期555-569,共15页
Background In in vitro fertilization (IVF) treatment, preimplantation genetic diagnosis/screening (PGD/S) attempts to detect chromosomal abnormalities in embryos before implantation. Using the meta-analytic and qualit... Background In in vitro fertilization (IVF) treatment, preimplantation genetic diagnosis/screening (PGD/S) attempts to detect chromosomal abnormalities in embryos before implantation. Using the meta-analytic and qualitative review approaches, this study aims to evaluate the effect of PGD/S on clinical pregnancy, live births, and childhood outcomes. Methods We conducted a literature search using 1) PubMed and other search engines, and 2) an ancestry search by track-ing references cited in prior work. After screening the studies, we extracted information pertinent to the meta-analysis. We calculated the effect sizes for clinical pregnancy and live birth rates, and performed a moderation analysis by maternal age, type of genetic screening, and timing of the biopsy. For childhood outcomes, we conducted a systematic review of studies reporting the anthropometric, psychomotor, cognitive, behavioral, and family functioning of PGD/S children. Results We included 26 studies for clinical pregnancy and live births, and 18 studies for childhood outcomes. Results indi-cated that women who underwent comprehensive chromosome screening-based PGD/S had significantly higher clinical pregnancy rates (rr 1.207, 95% CI 1.017–1.431) and live birth rates (rr 1.362, 95% CI 1.057–1.755) than those whose IVF treatment did not include PGD/S. Early childhood outcomes of PGD/S children did not differ from those of non-PGD/S children. Conclusions Comprehensive chromosome screening-based PGD/S can improve clinical pregnancy and live birth rates without adversely affecting functioning in childhood at least up to age 9. Results are discussed in the context of bioethical, financial, legal, and psychological issues surrounding PGD/S. 展开更多
关键词 CHILD development In VITRO FERTILIZATION PREGNANCY preimplantation genetic diagnosis/screening
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Genetic testing and PGD for unexplained recurrent fetal malformations with MAGEL2 gene mutation 被引量:5
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作者 Wei Guo Yanli Nie +9 位作者 Zhiqiang Yan Xiaohui Zhu Yuqian Wang Shuo Guan Ying Kuo Wenxin Zhang Xu Zhi Yuan Wei Liying Yan Jie Qiao 《Science China(Life Sciences)》 SCIE CAS CSCD 2019年第7期886-894,共9页
Birth defects are caused by multiple factors,such as chromosome abnormality,environmental factors,and maternal factors.In this study,we focused on exploring the genetic causes of a non-consanguineous couple who suffer... Birth defects are caused by multiple factors,such as chromosome abnormality,environmental factors,and maternal factors.In this study,we focused on exploring the genetic causes of a non-consanguineous couple who suffered from four times of unsuccessful pregnancy due to unexplained recurrent fetal malformations with similar symptoms and normal chromosome copy number variations.Using trio-whole exome sequencing(trio-WES) for this couple and one of the affected fetuses,we found a mutation,c.1996 delC on the maternal imprinted gene MAGEL2 that was carried by the affected fetus and husband,leading to Schaaf-Yang syndrome.To screen this mutation,we further performed preimplantation genetic diagnosis(PGD) strategy followed by a gene pedigree validation and pathogenicity analysis.After the transfer of a PGD-screened embryo,a normal newborn without previous abnormal symptoms was born(February 15,2019).We present the first data that identified a pathogenic gene(MAGEL2 c.1996 delC) in a fetus with Schaaf-Yang syndrome in the EAS(East Asian) database and overcame this genetic defect by using processed PGD for this couple based on the WES results. 展开更多
关键词 UNEXPLAINED RECURRENT fetal MALFORMATIONS whole EXOME sequencing (WES) preimplantation genetic diagnosis (pgd) Schaaf-Yang syndrome
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Outcome of Couples with Reciprocal Translocation Carrier Undergoing the First Preimplantation Genetic Testing Cycles 被引量:1
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作者 Cai-Xia Lei Shuo Zhang +7 位作者 Hai-Yan Sun Sai-Juan Zhu Jing Zhou Jing Fu Yi-Juan Sun Jun-Ping Wu Yue-Ping Zhang Xiao-Xi Sun 《Reproductive and Developmental Medicine》 CSCD 2018年第1期30-37,共8页
Background: Reciprocal translocation(RCP) causes male infertility and female recurrent pregnancy loss. Male and female carriers have different responses to meiotic disturbances. Gender difference in outcomes of the RC... Background: Reciprocal translocation(RCP) causes male infertility and female recurrent pregnancy loss. Male and female carriers have different responses to meiotic disturbances. Gender difference in outcomes of the RCP couples undergoing preimplantation genetic testing(PGT) is unknown.Methods: We conducted a retrospective analysis of 238 RCP couples(124 female and 114 male carriers) divided by gender of carrier from March 2014 to March 2017. Blastocysts were divided by day 5 and day 6. Females were divided into older(≥38 years) and younger(<38 years). Logistic regression was fitted for the relationship between gender of carriers and euploidy. Euploidy rate of each group, pregnancy rate, and live birth rate between different genders were analyzed.Results: The sperm live rate, forward motile sperm rate, and normal morphology rate of serum in male RCP group were significantly decreased. The euploidy rate was 30.30% in female group and 34.90% in male group(P = 0.131); 34.50% in day 5 group and 27.50% in day 6 group(P = 0.039); 33.40% in age <38 years group and 22.40% in age ≥38 years group(P = 0.063). Day 5(odds ratio [OR] = 1.388, 95% confidence interval [CI ] = 1.012–1.904; P = 0.042) and younger age(OR = 1.753, 95% CI = 0.97–3.17; P = 0.063) were associated with euploidy. The clinical pregnancy rate(37.90% vs. 41.20%), ongoing pregnancy rate(33.10% vs. 37.70%), and live birth rate(25.80% vs. 31.60%) per initiated were not significantly different in two gender groups.Conclusions: Although gender influence is not significant, couples with male carrier showed better clinical outcomes. The embryo growing rate and female age are important predictions estimating euploidy in RCP couples. 展开更多
关键词 In Vitro Fertilization Intracytoplasmic Sperm Injection preimplantation genetic diagnosis preimplantation genetic screening preimplantation genetic Testing‑Aneuploidy Single‑Nucleotide Polymorphism
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胚胎植入前遗传学诊断10个周期的临床分析 被引量:13
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作者 李刚 孙莹璞 +2 位作者 金海霞 辛志敏 戴善军 《生殖与避孕》 CAS CSCD 北大核心 2007年第11期718-722,共5页
目的:初步探讨使用荧光原位杂交(FISH)方法对染色体异常患者进行胚胎植入前遗传学诊断(PGD)的临床意义。方法:7对不孕夫妇采用长方案控制性超排和卵胞浆内单精子注射,受精后d3胚胎活检、卵裂球固定和FISH,d4或d5择合适胚胎移植。结果:7... 目的:初步探讨使用荧光原位杂交(FISH)方法对染色体异常患者进行胚胎植入前遗传学诊断(PGD)的临床意义。方法:7对不孕夫妇采用长方案控制性超排和卵胞浆内单精子注射,受精后d3胚胎活检、卵裂球固定和FISH,d4或d5择合适胚胎移植。结果:7对夫妇共进行10个PGD周期。获卵251个,可供活检胚胎133个,活检卵裂球207个,胚胎活检成功率为96.2%(128/133)。128个成功活检胚胎的197个卵裂球,其单细胞固定率为93.9%(185/197),FISH信号率为90.8%(168/185)。10个周期共移植22个胚胎,3例获得妊娠,并均足月分娩健康婴儿,其中1例孕妇平衡易位携带者于孕中期时,羊水核型分析为平衡易位携带者。结论:应用FISH方法进行PGD,是遗传病高危夫妇预防流产和染色体异常患儿出生的有效手段。 展开更多
关键词 染色体 植入前遗传学诊断(pgd) 荧光原位杂交(FISH)
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高通量基因测序植入前胚胎遗传学诊断和筛查技术规范(试行) 被引量:26
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作者 徐艳文 黄国宁 +15 位作者 孙海翔 范立青 冯云 沈浣 刘平 卢文红 张云山 王秀霞 张松英 黄学锋 伍琼芳 全松 周从容 师娟子 孙莹璞 周灿权 《生殖医学杂志》 CAS 2017年第5期391-398,共8页
高通量基因测序技术的迅猛发展,极大地拓宽了人类胚胎植入前遗传学诊断/筛查(PGD/PGS)的适用范畴,提高了PGD/PGS的准确性。为了更规范地使用高通量基因测序技术进行PGD/PGS,中华医学会生殖医学分会制定此规范,以明确开展本项技术的基本... 高通量基因测序技术的迅猛发展,极大地拓宽了人类胚胎植入前遗传学诊断/筛查(PGD/PGS)的适用范畴,提高了PGD/PGS的准确性。为了更规范地使用高通量基因测序技术进行PGD/PGS,中华医学会生殖医学分会制定此规范,以明确开展本项技术的基本条件、组织管理、临床流程与质量控制等方面的基本要求。 展开更多
关键词 高通量基因测序技术 植入前遗传学诊断 植入前遗传学筛查
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高通量测序技术在临床遗传学中的应用 被引量:4
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作者 钱叶青 王丽雅 +3 位作者 罗玉琴 严恺 董旻岳 金帆 《浙江大学学报(医学版)》 CAS CSCD 北大核心 2017年第3期334-337,共4页
以高通量测序技术为代表的现代分子生物学技术在遗传学领域的推广应用,正在深刻改变我们医学遗传学的现状。无创产前筛查、染色体拷贝数变异、遗传病致病位点筛查、胚胎植入前诊断都是高通量测序技术应用于临床的最佳实例。令人欣喜的... 以高通量测序技术为代表的现代分子生物学技术在遗传学领域的推广应用,正在深刻改变我们医学遗传学的现状。无创产前筛查、染色体拷贝数变异、遗传病致病位点筛查、胚胎植入前诊断都是高通量测序技术应用于临床的最佳实例。令人欣喜的是,人类遗传性疾病的发病机制发现、精确诊断和精准治疗,尤其是安全有效的再发生防控技术都在快速地发展和普及。而新一代的基因改造技术也为遗传性疾病的病因分析和基因改造提供了可能。2017年浙江省医学会医学遗传学年会将以“遗传性疾病的筛查与诊断”为主题,邀请国内外二十多位专家,就高通量测序技术在遗传病病因诊断和产前诊断、产前筛查中的应用等话题进行交流,本文对此进行综述。 展开更多
关键词 植入前诊断 遗传筛查 高通量测序 综述
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遗传性耳聋规范化筛查与诊断的探讨 被引量:33
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作者 袁永一 戴朴 《中华耳科学杂志》 CSCD 北大核心 2019年第5期611-615,共5页
先天性耳聋中60%由遗传因素导致,通过基因筛查明确遗传风险、通过基因诊断明确耳聋分子病因,能够阻断遗传性耳聋在家庭内的垂直传递,是耳聋防控的有效手段。本文就耳聋基因诊断方法和检测基因范围的选择、新生儿耳聋基因筛查和携带者筛... 先天性耳聋中60%由遗传因素导致,通过基因筛查明确遗传风险、通过基因诊断明确耳聋分子病因,能够阻断遗传性耳聋在家庭内的垂直传递,是耳聋防控的有效手段。本文就耳聋基因诊断方法和检测基因范围的选择、新生儿耳聋基因筛查和携带者筛查的意义及筛查位点纳入原则、检测前及检测后遗传咨询等进行探讨,期望促进遗传性耳聋规范化筛查与诊断的开展。 展开更多
关键词 遗传性耳聋 基因诊断 基因筛查 产前诊断 胚胎植入前诊断
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耳聋基因的胚胎植入前诊断 被引量:10
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作者 毕青玲 黄莎莎 戴朴 《中华耳科学杂志》 CSCD 北大核心 2018年第1期80-87,共8页
耳聋是人类最常见的遗传疾病之一,世界不同国家地区报告新生儿耳聋的发病率在1~3‰。在我国大概有2780万聋人,每年有3万多先天性耳聋的新生儿出生,之前有调查显示耳聋新生儿中有54.93%是由遗传因素造成。如此庞大的耳聋及突变基因携带... 耳聋是人类最常见的遗传疾病之一,世界不同国家地区报告新生儿耳聋的发病率在1~3‰。在我国大概有2780万聋人,每年有3万多先天性耳聋的新生儿出生,之前有调查显示耳聋新生儿中有54.93%是由遗传因素造成。如此庞大的耳聋及突变基因携带者家庭很大一部分具有强烈的生育正常听力下一代的意愿。目前对于阻断耳聋向子代遗传,产前诊断技术是唯一的预防手段。但由于其有创、可能面临大月份引产等带来一定的伦理争议。对于耳聋这种非致死性遗传病,胚胎植入前诊断(preimplantation genetic diagnosis,PGD)是目前国际上主流的预防手段。因此我们亟需建立一种针对中国人群耳聋遗传病特点的,简便易行、可靠性高、成功率高的胚胎植入前诊断方法。成为耳聋三级预防体系的第一道关卡。本文系统回顾了单基因遗传病尤其是遗传性耳聋胚胎植入前诊断方法的发展历史和最新进展,阐述了胚胎活检、全基因组扩增、连锁分析、染色体扫描四个胚胎植入前诊断关键技术步骤的方法及新进展。 展开更多
关键词 胚胎植入前诊断 遗传性耳聋 全基因组扩增 胚胎植入前遗传学筛查
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杜氏肌营养不良症(DMD)的植入前遗传学诊断 被引量:4
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作者 钟昌高 李麓芸 +6 位作者 陆长富 林戈 龚斐 张瞻 廖宏庆 张红 卢光琇 《中国现代医学杂志》 CAS CSCD 北大核心 2009年第17期2588-2592,共5页
目的对杜氏肌营养不良症(duchenne muscular dystrophy,DMD)进行植入前遗传学诊断(preim-plantation genetic diagnosis,PGD),阻断DMD患儿的出生。方法针对患者的DMD基因的48号外显子缺失位点采用巢式PCR分别对患者和携带者的单个淋巴... 目的对杜氏肌营养不良症(duchenne muscular dystrophy,DMD)进行植入前遗传学诊断(preim-plantation genetic diagnosis,PGD),阻断DMD患儿的出生。方法针对患者的DMD基因的48号外显子缺失位点采用巢式PCR分别对患者和携带者的单个淋巴细胞、行体外授精-胚胎移植治疗的健康志愿捐献者的单个卵裂球细胞进行扩增,建立稳定的经单细胞基因诊断DMD的方法。再对在该中心进行超排和体外授精-胚胎移植治疗的DMD携带者的胚胎活检后完成PGD,根据诊断结果选择健康的优质的胚胎移植入子宫。结果携带者的单个淋巴细胞的PCR扩增成功率为90.5%(95/105),健康志愿捐献者的单个卵裂球细胞PCR扩增成功率为85.7%(54/63),假阳性率为0(0/28)。分别对3例DMD携带者施行了植入前遗传学诊断,病例1移植了2枚未受累的优质胚胎,且成功妊娠单胎并已于2005年4月分娩了1个健康的女婴;病例2移植了2枚优良胚胎,不幸的是未能妊娠。病例3诊断为未受累的仅有的2枚胚胎因胚胎质量差而未能移植。结论该组采用的方案可对DMD基因的48号外显子缺失突变的DMD家庭进行PGD,达到了阻断DMD患儿出生的目的。 展开更多
关键词 杜氏肌营养不良症 单细胞巢式PCR 植入前遗传学诊断 DMD基因48号外显子缺失
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试管婴儿技术的发展与探讨 被引量:27
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作者 彭靖 卢大儒 《自然杂志》 北大核心 2010年第6期338-340,341-343,共6页
2010年诺贝尔生理学或医学奖授予了"试管婴儿之父"罗伯特.爱德华兹。试管婴儿技术是一项影响深远的重要技术,为人类辅助生育技术带来了重大变革。试管婴儿技术主要是融合了体外受精技术与胚胎移植技术,旨在帮助各种不孕不育... 2010年诺贝尔生理学或医学奖授予了"试管婴儿之父"罗伯特.爱德华兹。试管婴儿技术是一项影响深远的重要技术,为人类辅助生育技术带来了重大变革。试管婴儿技术主要是融合了体外受精技术与胚胎移植技术,旨在帮助各种不孕不育症夫妇繁育后代。30多年来,在原有基础上,试管婴儿技术还发展演变出了胞内单精子注射以及胚胎移植前遗传诊断等其他方法,使得其功能大幅扩展。本文将对试管婴儿技术,发展历程和引发的伦理社会问题作一个简要介绍。 展开更多
关键词 罗伯特·爱德华兹 试管婴儿 胞内单精子注射 胚胎移植前遗传诊断
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胚胎冻融对卵裂期行植入前遗传学诊断或筛查后可移植胚胎临床结局的影响 被引量:4
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作者 石碧炜 崔龙 +1 位作者 叶晓群 叶英辉 《浙江大学学报(医学版)》 CAS CSCD 北大核心 2017年第3期295-299,共5页
目的:探讨胚胎冻融对卵裂期胚胎行植入前遗传学诊断或筛查后可移植胚胎临床结局的影响。方法:回顾2011年1月至2016年12月在浙江大学医学院附属妇产科医院行植入前遗传学诊断或筛查的302个周期,分析其病例组成,比较其中新鲜胚胎组(n=184... 目的:探讨胚胎冻融对卵裂期胚胎行植入前遗传学诊断或筛查后可移植胚胎临床结局的影响。方法:回顾2011年1月至2016年12月在浙江大学医学院附属妇产科医院行植入前遗传学诊断或筛查的302个周期,分析其病例组成,比较其中新鲜胚胎组(n=184)与冻融胚胎组(n=118)的移植妊娠率、着床率、活产率和流产率,并分析妊娠结局的影响因素。结果:新鲜胚胎组正常或平衡易位胚胎检出率高于冻融胚胎组,平均移植胚胎个数多于冻融胚胎组,差异有统计学意义(均P<0.05);新鲜胚胎组的妊娠率、着床率和活产率低于冻融胚胎组,而流产率高于冻融胚胎组,但差异均无统计学意义(均P>0.05)。多因素logistic回归分析结果显示,女方年龄、男方年龄、胚胎类型、植入前遗传学诊断或筛查方式和病因对妊娠结局均无影响(均P>0.05)。结论:卵裂期胚胎冷冻复苏对植入前遗传学诊断或筛查后可移植胚胎的临床结局无显著影响。 展开更多
关键词 低温保存 胚胎移植 受精 体外 分裂期 流产 自然/病因 妊娠结局 植入前诊断 遗传筛查
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