Results 11 to 20 of about 677,807 (152)
PCR/异源双链形成分析法在β地中海贫血产前诊断中的应用 [PDF]
Zhongshan Daxue xuebao. Yixue kexue ban, 1993 采用聚合酶链反应(PCR)结合聚丙烯酰胺凝胶电泳(PAGE),检测PCR产物异源双链形成情况,诊断和产前诊断B珠蛋白生成障碍性贫血(β地中海贫血)CD41-42(-CTTT)突变。此方法简便快速,可区分有无突变,并能鉴别纯合子与杂合子。应用本方法进行了4例产前诊断。对此方法的优点和局限性及应用前景进行了讨论。doaj +1 more sourceα-地中海贫血种植前基因诊断妊娠成功 [PDF]
Zhongshan Daxue xuebao. Yixue kexue ban, 2002 【目的】探讨种植前基因诊断的临床应用。【方法】对1 例夫妇均为东南亚缺失型α-地中海贫血携带者, 经超排
取卵、卵母细胞单精子显微注射受精及胚胎细胞活检, 吸取的单个卵裂球采用针对α-SEA 基因的gap-PCR 引物和荧光探针用
荧光定量PCR 技术进行诊断, 将诊断为不致病的3 个胚胎进行宫腔内移植。【结果】胚胎移植后7 周B 超诊断单胎妊娠, 18
周羊膜腔穿刺产前诊断证实为不致病胎儿。【结论】应用成熟的显微操作技术进行胚胎细胞活检, 活检的单个卵裂球用荧光
定量PCR 技术进行诊断 ...李晓红doaj +1 more source运用二代测序技术产前诊断ZMPSTE24基因突变 [PDF]
Zhongshan Daxue xuebao. Yixue kexue ban, 2017 【目的】探讨二代测序技术结合Sanger测序验证法在一原发性部分性绒毛膜羊膜病理性分离家系致病基因检测的作用，探索临床罕见胎儿疾病的产前诊断思路与方法。【方法】采用全基因外显子高通量测序方法，在ZMPSTE24基因中发现两个致病突变，随后对先证者及其父母的致病位点进行Sanger测序验证，明确致病位点后，对第3次妊娠胎儿行绒毛取样术实施产前诊断，分析致病位点。【结果】检测到先证者在ZMPSTE24基因第10个外显子上发生了框移突变（c.1389至 c.1390缺失AG，来源于母亲 ...麦明琴, 王逾男, 丁红珂, 尹爱华 +3 moredoaj +1 more source羊水细胞的荧光原位杂交用于胎儿染色体非整倍体的产前诊断 [PDF]
Zhongshan Daxue xuebao. Yixue kexue ban, 2006 【目的】应用染色体特异性探针对羊水间期细胞进行 FISH 分析。【方法】对 78 例有产前诊断指征的孕妇进行羊水间期细胞的 FISH 分析及细胞核型分析。【结果】71 例二倍体羊水样本, FISH 诊断与细胞培养核型分析相符; 染色体数目异常 7 例, FISH 诊断出其中 6 例。间期细胞 FISH 的杂交率与探针类型、靶细胞种类及孕周有关。孕晚期羊水样本、母血污染的样本和快速杂交的样本, 以及长时间放置的样本, FISH 分析结果与核型分析完全符合。针对特异探针而言, 染色体非整倍体的诊断准确率达 ...游泽山, 陈宝江, 罗艳敏, 朱沃棠 +3 moredoaj +1 more source高风险血红蛋白H病产前基因诊断 [PDF]
Zhongshan Daxue xuebao. Yixue kexue ban, 1994 用α珠蛋白基因探针和ＤＮＡ印迹杂交法对１７例有血红蛋白Ｈ病高风险胎儿进行了产前基因诊断，诊断结果有５例为α地中海贫血（α地贫）１杂合子或正常，５例为α地贫２杂合子，３例为血红蛋白Ｈ病，１例为血红蛋白Ｂａｒｔ胎儿水肿综合征，其余３例由于双亲一方为非缺失型α地贫，故对其胎儿的基因型不能作出准确诊断。doaj +1 more source胎儿肠扭转的产前超声诊断及临床预后探讨 [PDF]
, 2021 目的探讨胎儿肠扭转的产前超声特征及临床预后。方法回顾性分析2017年6月至2021年3月在广东省妇幼保健院超声科进行产前超声检查、超声提示肠扭转或产后证实肠扭转的17例胎儿的超声表现及临床资料，以肠管扩张合并漩涡征或血管螺旋征为诊断肠扭转的标准，并随访胎儿出生后手术病理或引产后尸体解剖结果，追踪其临床预后。结果17例孕妇年龄介于24~40岁，中位数29（26~33）岁；初次诊断肠扭转的孕周介于24~33周，中位数26（24~31）周。17例胎儿在妊娠过程中均出现肠管扩张，16例存在漩涡征 ...肖尚杰, 陈丹, 王丽敏, 潘云祥, 吴松鑫, 马秋萍, 尚宁, 万志彬 +7 morecore +1 more source罕见完全性易位型18-三体的产前遗传学诊断及溯源分析 [PDF]
, 2023 目的探讨无创产前检测（NIPT）提示18-三体高风险胎儿的罕见异常核型起源及对生育的影响。方法产前诊断一例罕见完全性易位型18-三体病例，结合细胞及分子遗传学分析对胎儿染色体异常进行溯源。以“易位型18-三体”、“18-三体易位型”（包括中、英文）为检索词，对PubMed、CNKI、SinoMed文献服务系统、万方数据知识服务平台、维普中文科技期刊数据库及中华医学期刊全文数据库进行检索，收集并分析检索到的病例资料。结果胎儿SNP array提示18-三体，经父母G-显带核型分析验证 ...叶燕绸, 陈争, 郝秀兰, 黄容, 方群, 郝颖, 黄秀静, 陈武斌 +7 morecore +1 more source产前超声检查在诊断胎儿膈疝中的应用价值 [PDF]
, 2014 Objective: To evaluate the prenatal ultrasound detection in the diagnosis of fetal diaphragmatic hernia. Methods: After routine prenatal ultrasonic examination in pregnant women, the suspected fetal diaphragmatic hernia cases were taken thoracic and ...Lu, Hong-tao; Department of Ultrasound, Zaozhuang Maternity＆Child Healthcare Hospital, Zaozhuangcore +1 more sourcePrenatal diagnosis of cardiac rhabdomyoma: implications for predicting tuberous sclerosis complex and guiding perinatal management
Ultrasound in Obstetrics &Gynecology, Volume 68, Issue 1, Page 88-98, July 2026.ABSTRACT Objective
To identify prenatal predictors of tuberous sclerosis complex (TSC) in fetuses with one or more cardiac rhabdomyomas (CR), evaluate an integrated multimodal diagnostic workflow using fetal magnetic resonance imaging (MRI) and trio whole‐exome sequencing (trio‐WES) and characterize perinatal outcomes.X. Cai, J. Liu, W. Zheng, Y. Jiao, Y. Lou, M. Deng, W. Zhao, K. Yan, L. Sun +8 morewiley +1 more sourceChanging trends in prenatal screening and treatment of cytomegalovirus infection in France: 7‐year national cohort study (2017–2023)
Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 6, Page 756-763, June 2026.ABSTRACT Objectives
Cytomegalovirus (CMV) is the leading cause of congenital infectious neurosensory impairment. We aimed to present national epidemiological data on maternal CMV infection during pregnancy in France, focusing in particular on primary infection in the periconceptional period or first trimester, and to assess the impact of changes in ...P. Coste‐Mazeau, E. Ribot, S. Hantz, Y. Ville, M. Leruez‐Ville, S. Alain, the French Congenital Infection database group, Maeva Anciaux, Laurent Andreoletti, Julie Arata‐Bardet, Carine Arlicot, Dominique Astruc, Jocelyne Attia, Marie‐Stéphanie Aubelle, Christelle Auvray, Bassel Bachour, Sonanda Bailleux, Nathalie Banaszkiewicz, Adeline Baron, Audrey Baudesson de Chanville, Manon Baudry, Agnès Beby‐Defaux, Alexandra Benachi, Melinda Benard, Yasmina Benmalek, Guillaume Benoist, Géraldine Benoit, Clotilde Bertrand, Florence Biquard, Delphine Body‐Bechou, Emilie Bouissou, Brahim Boumahni, Thomas Bourlet, Elise Bouthry, David Boutolleau, Marie Pierre Brechard, Caroline Bressollette, Olivier Brissaud, Marine Butin, Anne‐Sophie Cabaret‐Dufour, Romain Cahierc, Sandrine Caillot‐Vaudoyer, Odile Camard, Margaux Canaguier, Isabelle Cannavo, Clément Castella, Julie Cattin, Caroline Chessa, Marie‐Thérèse Cheve, Marianne Coicaud, Laurence Contin, Marianne Coste‐Burel, Sophie Couderc, Anne‐Marie Darras, Amélie Delabaere, Delphine Delayer, Mathilde Demeyere, Joelle Dendale, Anny Dewilde, Murielle Dobrzynski, Chloé Dole, Chloé Epiard, Véronique Equy, Laurence Fagour, Frederic Faibis, Benoit Fetiveau, Axel Fichez, Christelle Follet‐Bouhamed, Justine Formet, Vincent Foulongne, Loriane Franchinard, Emilie Frobert, Denis Gallot, Patricia Garcia, Isabelle Garrigue, Catherine Gaudy‐Graffin, Stéphanie Gouarin, Ann‐Claire Gourinat, Veronique Grezard, Michele Gueneret‐Bru, Jérôme Guinard, Frédérique Hay, Sophie Henault, Céline Homatter, Nadira Houhou, Cyril Huissoud, Véronique Jacomo, Gaelle Jambon, Eugénie Jolivet, Saodat Karimova, Blandine Keller, Sophie Ketterer‐Martinon, Fedia Khlif Masmoudi, François Kieffer, Bérengère Kireche, Anne‐Sophie L'Honneur, Jean‐Marc Labaune, Imad Labbassi, Marie‐Edith Lafon, Gisèle Lagathu, Stéphane Lastere, Hélène Laurichesse, Mouna Lazrek, Gwenaelle Le Bouar, Camille Le Pors, Claudine Le Vaillant, René Lebeaupin, Elodie Lecorps, Quentin Lepiller, Justine Lerat, Marine Letrecher, Nicolas Leveque, Emmanuelle Levine, Sophie Levrier, David Leyssene, Julien Lupo, Nadia Mahjoub, Anne‐Marie Maillotte, Sandrine Marioli, Julien Marlet, Stéphanie Marque Juillet, Manon Marquet, Charlotte Masias, Marco Millones Gonzales, Philippe Minodier, Nicolas Mottet, Eve Mousty, Sébastien Moutton, Anca Moza, Fatiha Najioullah, Anne‐Laure Nerre, Marie‐France Olieric, Isabelle Parent, Anne Paris, Christophe Pasquier, Estelle Perdriolle‐Galet, Franck Perrotin, Delphine Pesenti, Jean‐Charles Picaud, Olivier Picone, Sylvie Pillet, Léa Pilorge, Didier Pinquier, Veronique Poirier‐Cartron, Lucie Poisson, Perrine Prier, Catherine Queiros‐Da‐Silva, Thibaud Quibel, Harisoa Ramaholimihaso, Fabienne Raskin, Christel Regagnon, Mathilde Roffi, Thierry Rousseau, Anne‐Hélène Saliou, Adèle Schiby, Nathalie Schnepf, Christine Segard, Anaïs Soares, Morgane Solis, Robin Stephan, Natacha Teissier, Cyrielle Thonnon, Cynthia Trastour, Joelle Troussier, Anne Sylvie Valat, Christelle Vauloup‐Fellous, Véronique Venard, Valérie Vequeau‐Goua, Laura Verdurme, Mathilde Vermont, Marie Gabrielle Vigue, Marie Vincienne, Vladimir Vladimirov, Jean‐Baptiste Vuillemenot, Anne Sophie Weingertner, Eric Welter, Christine Zandotti +176 morewiley +1 more source
