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CYTOGENETIC PRENATAL DIAGNOSIS ON 66 CHORIONIC VILLUS SAMPLES IN IRAN
Cytogenetics chromosome villus
2009/12/29
A total number of 66 chorionic villus samples were cytogenetically investigated. The samples consisted of 30 experimental cvs from spontaneously aborted materialand 36 from live gestations.80% of the ...
Prenatal Diagnosis of Thanatophoric Dysplasia in Second Trimester
Prenatal diagnosis thanatophoric dysplasia
2009/6/26
Thanatophoric dysplasia (TD) is the most common type of lethal skeletal dysplasia in fetuses and neonates. It is characterized by extreme rhizomelia, a normal trunk length with a narrow chest and a la...
Prenatal Diagnosis of a Trisomy 13 Case Associated with Holoprosencephaly by Ultrasonography and Quantitative Fluorescent PCR
Aneuploidies holoprosencephaly QF-PCR prenatal diagnosis trisomy 13 ultrasonography
2009/6/22
Trisomy 13, first described by Patau in 1960 (1),occurs in 1/5000 of births and is the most severe of the autosomal trisomies (2). Common features of trisomy 13 include holoprosencephaly with midfacia...
Prenatal Diagnosis of b-Thalassemia in the Antalya Province
beta-globin gene beta-thalassemia sickle cell anemia prenatal diagnosis Antalya
2009/6/22
Beta-thalassemia and Sickle cell anemia are serious health problems in the Antalya Province of Turkey as well as World Wide. We aimed to summarize data obtained from the prenatal diagnosis for beta-th...
利用孕妇血浆DNA检测胎儿性别的研究Application of Fetal DNA in Maternal Plasma for Non-invasive Prenatal Diagnosis of Fetal Sex
巢式PCR 血浆DNA 性别鉴定 产前诊断
2008/1/10
摘要本文探讨应用孕妇血浆中游离DNA进行无创性产前性别诊断的可行性。用柱分离法提取73例孕妇血浆中DNA，用巢式PCR技术检测其胎儿SRY基因。 结果73位孕妇血浆DNA含量为0.0062~0.3399μg/μL。巢式PCR检测胎儿SRY基因的灵敏度为97.37%（37/38），假阴性率2.86%(1/35)，特异度85.71%（30/35），假阳性率13.16%(5/38)，总符合率91.78%...
应用胎儿特异性抗体HbF（γ链）标记法无创性产前基因诊断DMDUse of Fetal Specific Antibody—HbF to Detect Fetal Erythroblasts for Non-invasive Prenatal Diagnosis of DMD
有核红细胞 免疫组化 Duchenne型肌营养不良症 (DMD)
2008/1/6
摘要以孕8~26周孕妇外周血为材料，经过Percoll密度梯度离心初步富集，胎儿细胞特异性抗体—HbF标记、识别胎儿有核红细胞，母体和胎儿有核红细胞的精确区分是以胎儿和成人血红蛋白的组成差异为基础的。胎儿细胞胞浆黄染，而具有成人血红蛋白的母体细胞没有颜色。显微操作法获取全部阳性细胞后，以其全基因组扩增（PEP）的产物为模板，进行性别检测、DMD基因的多重PCR检测和STR连锁分析。结果，20名孕妇...
Prenatal Diagnosis of Fetal Umbilical Vein Varix in An Intracytoplasmic Sperm Injection Conception:A Case Report
umbilical vein varix prenatal ultrasonography
2010/4/9
Varix of the umbilical vein is a rare entity. We report a case of fetal intraabdominal umbilical vein varix (FIUV) diagnosed by color Doppler ultrasonography at 24 weeks of gestation. This case had no...