Results 11 to 20 of about 11,943 (158)

545例NIPT筛查高风险孕妇的产前诊断结果分析

open access: yesZhongguo shiyan zhenduanxue, 2021
目的探讨无创产前基因检测(NIPT)技术在产前诊断中的分析效能和临床应用价值。方法回顾性分析2013年9月至2018年12月于北京大学深圳医院就诊的545例NIPT筛查高风险并接受羊水穿刺孕妇(不包括双胎孕妇)的产前诊断结果。结果 545例NIPT高风险的孕妇中,21-三体165例、18-三体67例、13-三体41例、性染色体数目异常202例、常染色体数目异常49例、缺失或重复序列超过10Mb的结构异常病例21例,结合羊水细胞染色体核型分析发现21、18、13及性染色体NIPT假阳性率分别为11.5 ...
王贺, 肖晓素, 西仁娜依
doaj  

Analysis of chromosomal karyotypes in cases of cytogenetic counseling and leukemia disea [PDF]

open access: yes, 2010
目的:应用染色体分析技术对厦门地区的遗传咨询者以及白血病患者进行染色体核 型分析,以了解厦门地区染色体病发生状况、对优生优育工作提供实验依据以及通过染 色体核型分析对白血病患者的诊断、治疗和预后提供实验依据。方法:对遗传咨询者采 用外周血淋巴细胞培养法,对白血病患者采用骨髓细胞短期培养法,G显带。结果:2005 年至2008年厦门地区遗传咨询者染色体病发生率为19.11%。其中,不良孕产组的染色 体异常率为7.77%;性发育不良组的染色体异常率为25.28%;智力低下组的染色体异常 率为47.76 ...
张旺东
core  

Developing HMME‐Conjugated NIR‐II Activated Carbon Dots Nanospray for the Treatment of MRSA Biofilm Infections in Diabetic Wound via PTT/CDT/SDT

open access: yesRare Metals, Volume 45, Issue 4, April 2026.
ABSTRACT Diabetic wound infections are a common complication of diabetes, which severely impact patients' quality of life. Effective treatment of diabetic wound infections remains one major challenge in the clinic, partially due to the formation of bacterial biofilm and antibiotic resistance.
Liang Zhou   +8 more
wiley   +1 more source

Placental insufficiency markers to assess the risk of non‐chromosomal genetic conditions in early‐onset fetal growth restriction

open access: yesUltrasound in Obstetrics &Gynecology, Volume 67, Issue 4, Page 492-499, April 2026.
ABSTRACT Objectives To assess the value of placental insufficiency markers for estimating the risk of genetic anomalies in fetuses with isolated early‐onset fetal growth restriction (FGR), defined as an estimated fetal weight ≤ 3rd percentile diagnosed ≤ 28 + 6 weeks' gestation.
M. Armengol‐Alsina   +17 more
wiley   +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

open access: yesZhongshan Daxue xuebao. Yixue kexue ban, 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   +7 more
doaj   +2 more sources

Detection of Aneuploidy Using Suspension Array Technology after Multiplex Ligation-dependent Probe Amplification [PDF]

open access: yes, 2009
摘要 本论文围绕作为新一代分子诊断技术平台的液相芯片检测平台展开,以染色体非整倍体异常疾病为对象,首次提出结合多重连接探针扩增(MLPA)的液相悬浮芯片技术(又称MLPA-液相悬浮芯片技术),并且考察该技术在定量分析方面的应用潜力。染色体非整倍体异常疾病是一类因染色体数目增加或减少引起的发病率高的遗传性疾病,是孕妇需要进行产前检查的主要原因之一。因此将染色体非整倍体异常疾病作为检测对象探讨该技术检测拷贝数异常的可行性,既有技术创新性又有实际检测意义。 第一章 ...
曾懿
core  

Ultrasound features in early pregnancy for predicting abnormal karyotype in first‐trimester miscarriage

open access: yesUltrasound in Obstetrics &Gynecology, Volume 67, Issue 3, Page 376-384, March 2026.
ABSTRACT Objective To investigate whether combining abnormal morphological features observed on ultrasound in live pregnancies that ended in a first‐trimester miscarriage can predict an abnormal karyotype. Methods This retrospective observational cohort study was conducted at the early‐pregnancy assessment unit at University College London Hospital ...
T. Setty   +5 more
wiley   +1 more source

Nanodrug delivery in reversing multidrug resistance in breast cancer cells [PDF]

open access: yes, 2016
乳腺癌细胞产生多药耐药(Multidrugresistance,MDR)是乳腺癌化疗失败最主要的原因之一,深入研究拮抗或逆转乳腺癌多药耐药有着重要的理论和临床意义。紫杉醇(Paclitaxel,PTX)是目前临床上广泛应用的广谱抗癌药物。临床广泛使用的紫杉醇制剂(商品名“泰素”)毒副反应严重,超敏反应强烈,无明显靶向性,可诱发多药耐药,因此紫杉醇新制剂研究是当前国际国内的热点问题。 本文旨在研制出具有良好临床适应性、可逆转肿瘤多药耐药的紫杉醇纳米制剂,并使其具有磁靶向和光动力治疗的多重功能。首先 ...
王颖君
core  

供精人工授精308例患者术后护理体会 [PDF]

open access: yes
Objective: To discuss artificial insemination lie on your back after the surgery time and to obtain ideal pregnancy outcome. Methods: Thisstudy retrospectively analyzed patients undergoing for pure artificial insemination in in Renji Hospital,Shanghai ...
Gao, Yi, Liu, Hua
core   +2 more sources

Performance of non‐invasive prenatal testing in vanishing‐twin and multiple pregnancies: results of TRIDENT‐2 study

open access: yesUltrasound in Obstetrics &Gynecology, Volume 66, Issue 6, Page 738-746, December 2025.
ABSTRACT Objective To evaluate the performance of non‐invasive prenatal testing (NIPT) in vanishing‐twin and multiple pregnancies. Methods This study was conducted as part of the TRIDENT‐2 study, in which NIPT was offered as a first‐tier screening test to women with a multiple pregnancy or vanishing‐twin pregnancy between 1 June 2020 and 31 March 2023 ...
J. C. A. van Eekhout   +86 more
wiley   +1 more source

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