诊断性超声波子宫内照射对人早孕绒毛细胞DNA损伤的研究

随机选择年龄２０￣３０岁、孕６￣９周拟行人工流产的健康孕妇６０名，其中３０名以Ｂ型超声显像诊断仪经下腹部持续照射子宫内孕囊１０分钟，２４小时后与其他未经照射的３０名孕妇均行人工流产术。取绒毛组织，以＾３２Ｐ标记Ａｌｕ探针点杂交法检测绒毛细胞单、双链ＤＮＡ。结果表明：照射组与对照组比较，绒毛细胞单、双链ＤＮＡ量及含量均无显著性差异（Ｐ〉０．０５）。说明本实验所用诊断超声强度和照射时间未引起绒毛细胞Ｄ     

诊断剂量超声波对细胞增殖和抑制的实验研究

目前，产科诊中应用Ｂ超已成常规，但它的安全性引人关注。本研究采用模拟在人体中使用的实测超声剂量，对体外培养的Ｃ－９２９株细胞进行辐照，时间为１５分钟，通过细胞回复能力试验，观察了回复前（辐照后立即）及回复（辐照后９６小时）的细胞增殖与抑制。采用Ｃｓ－３超声诊断，分三档剂量进行实验。２＾＃剂量与人体应用进相近。结果１＾＃，２＾＃，３＾＃在回复前的细胞相对增殖率分别８７．５％，１０２．０％，１１５．４     

41例羊水或绒毛染色体核型分析报告

本文分析了41例孕妇的羊水或绒毛的染色体核型，其中异常核型3例，检出率为7．3％。本文讨论了产前诊断的临床意义及其注意事项。     

早孕绒毛短期培养制备染色体的应用研究

本文通过对47例绒毛短期培养法制备染色体的研究,发现异常核型3例,检出率6.5％;绒毛培养成功率100％,核型分析成功率97.9％。结果显示;绒毛经短期培养及改进后的制片方法所获染色体,在质与量上均明显优于直接法,染色体长、直,少扭曲,分散好,G显带清晰稳定,带纹丰富。应用本法完全可在孕早期对染色体结构畸变作出细胞遗传学诊断。     

输卵管妊娠患者的绒毛细胞染色体研究

输卵管妊娠是严重危害妇女健康，甚至死亡的一种疾病。目前世界各地输卵管妊娠的发病率比１９７０年以前增高３倍以上。多年来，国内外的医务工作者从各方面探索输卵管妊娠的病因，以便对该疾病进行控制。迄今为止，国内尚未有人从胚胎染色体异常的角度进行探索输卵管妊娠的病因。我们自１９９５年１月对８６例经手术治疗的输卵管妊娠患者行绒毛细胞染色体研究，以明确输卵管妊娠与胚胎绒毛细胞染色体畸变的关系。现报告如下。对象与方法取经手术治疗的输卵管妊娠患者的绒毛组织（按染色体直接制片法）行绒毛细胞染色体检查，镜下数３０个中…     

早孕绒毛简速制备染色体的技术研究

经对37例早孕绒毛进行简速法与直接法的配对研究,结果显示:简速法制备染色体在分裂相数、可计数数、可供分析数均优于直接法,且染色体扭曲少,形态变直,G显带清晰度及分散程度等质量均有提高。     

孕早期绒毛染色体培养应用于产前诊断69例

目的建立绒毛染色体培养分析方法用于孕早期产前诊断并进行有效性评估。方法 2007年10月至2010年2月共69例孕早期具有相应的产前诊断适应症孕妇,于孕7-13周经腹抽取绒毛样本,用培养法进行染色体培养、分析。结果 69例绒毛样本全部培养成功,检出染色体异常5例,其中21-三体1例,18三体1例,不平衡易位1例,平衡易位1例,9号染色体臂间倒位1例,异常核型携带者进行相应的临床处置。结论绒毛染色体培养分析是孕早期产前诊断的有效方法,绒毛活检术在产前诊断领域应用前景广泛,与羊膜腔、脐带血穿刺术相比较有一定优势,在条件许可的实验室应尽可能开展。     

流产绒毛染色体核型分析48例

已知着床前的人胚中几乎1/4染色体不平衡,约有15～20％的妊娠发生流产,在对流产物的研究中发现大约50～60％有染色体异常,发育至足月的新生儿约2％系染色体异常。所以有染色体异常的受精卵、胚胎、胎儿在妊娠过程中逐渐被自然淘汰,从而保证了人类健康,正常地繁衍后代。 材料及方法 一、材料 我院1987年元月至1988年10月间门诊难免流产,先兆流产及虽无妊娠期出血病史,但人工流产物中有陈旧血块的患者共48例。对以上早期妊娠有显、隐性出血的流产物均行早孕绒毛直接制备染色体核型分析。取同期人工流产、无孕期出血患者     

First trimester chorionic villi sampling and direct chromosome preparations

Chorionic villi sampling was performed on 52 patients prior to elective termination of their pregnancies. Villi were obtained in 42, and direct chromosome preparations were successful in 41 of them. The use of a mixture of 0.075 M potassium chloride and 1% sodium citrate in the ratio of 2:1 for hypotonic treatment and 40% acetic acid for cell dispersal yielded chromosomes with good morphology and G-bands.     

A reproducible modified method for direct preparation of chorionic villi cytogenetic analysis

Chorionic villi are finger like projections, which surrounds the embryonic sac in early pregnancy and will later form the placenta. The outer layer of the chorionic villi consists of trophoblast cells. These cells are actively dividing and can be used for direct preparation or short-term culture for prenatal diagnosis of chromosomal abnormalities. We herein describe a 100% reproducible modified technique for one day direct culturing (direct prepara-tion) of trophoblast cells. Direct preparation of chorionic villi provides the physician with additional diagnostic information during prenatal diagnosis and genetic counseling. Direct preparation also eliminates the risk of maternal cell contamination. This method was 100% reproducible provided all the precautions mentioned herewith were taken into consideration and can be completed in 45 minutes upon arrival of the samples in the laboratories.     

Chromosomal mosaicism and maternal cell contamination in chorionic villi cultures

In a series of 110 chromosome analyses, after chorionic villus sampling, mosaics were found in 3 out of 106 long term cultures. In all 3 cases, subsequent amniotic fluid cell cultures showed normal karyotypes. Maternal cell contamination was encountered in one long term culture derived from carefully dissected chorionic villi.     

Niemann-Pick disease type B: first-trimester prenatal diagnosis on chorionic villi and biochemical study of a foetus at 12 weeks of development

First-trimester prenatal diagnosis of Niemann-Pick disease type B was successfully achieved by sphingomyelinase assay on chorionic villi, performed directly and after 3 weeks' culture. Cultured chorionic cells were normally found to exhibit sphingomyelinase activities 3 times higher than seen in the solid biopsy, and showed a lower residual activity in the affected foetus. Their study may thus prove helpful in dubious cases. Enzyme activities and lipid patterns were studied in several organs of the aborted foetus. Lysosomal sphingomyelinase was deficient in all tissues. The lipid pattern of the brain was normal for the age, but a 4-fold sphingomyelin storage had already taken place in the liver (2.5-fold in the spleen) of this 12-gestational week foetus.     

绒毛染色体培养和荧光原位杂交技术应用于自然流产原因分析

目的分析自然流产与染色体异常的关系,探讨传统的细胞培养法和荧光原位杂交技术(FISH)在临床诊断中的可行性。方法对89例自然流产患者绒毛同时进行传统细胞遗传学分析和荧光原位杂交分析。结果 89例绒毛细胞培养成功59例,检出染色体数目异常25例,结构异常3例,嵌合体3例;89例FISH实验成功率100%,检出13、16、18、21、22和性染色体数目异常29例。结论胎儿染色体异常是导致自然流产的重要原因,其中数目异常是最主要的类型,流产绒毛染色体分析和FISH技术在临床应用上各有优势,两种技术的结合可优势互补,提高诊断效率,在流产查因、产前诊断等领域应用前景广泛。     

An evaluation of maternal cell contamination in cultures of chorionic villi for the prenatal diagnosis of chromosome abnormalities

Culture of chorionic villus cells provides a method of obtaining chromosomes of excellent quality for first trimester prenatal diagnosis. Concern exists that maternal cells present in the biopsy may contaminate the culture and lead to misdiagnosis. This study has confirmed that karyotypes obtained from female villus cultures were non-maternal by establishing the presence of paternal markers using Q- and C-banding. Male cultures were harvested serially to investigate the possibility of maternal cell overgrowth. Of 82 successful cultures investigated, 37 were male and 45 female and of the males 4 contained a mixture of male and female cells. Thorough dissection of the material is essential if maternal cell contamination is to be mininimised. The use of heteromorphic chromosome markers to establish that fetal cells have grown provides valuable reassurance.     

染色体微阵列分析在超声异常胎儿产前诊断中的应用价值

目的探讨染色体微阵列分析技术(chromosomal microarray analysis,CMA)在超声异常胎儿产前诊断中的应用价值。方法选取B超提示异常的胎儿293例,包括结构异常168例及非结构异常125例。在排除常见的染色体异常核型后,对其羊水行CMA检测。结果CMA共检出致病性拷贝数变异(pathogenic copy number variants,pCNVs)16例,检出率为5.46%。在168例结构异常胎儿中检出pCNVs 10例,检出率为5.95%。在125例非结构异常胎儿中检出pCNVs 6例,检出率为4.80%。结论与传统的染色体核型分析相比,CMA可以提高超声异常胎儿染色体异常的检出率,可作为有效的产前诊断方法。     

The value of histomorphological features of chorionic villi in early spontaneous abortion for the prediction of karyotype

This study was conducted to evaluate the value of histomorphological features of chorionic villi, such as size, shape, vascularity, trophoblast proliferation and trophoblastic pseudo-inclusions, for the prediction of chromosomal abnormality. Slides of 83 early spontaneous abortions were assessed by three observers. Assessments and karyotype were compared and likelihood ratios computed. Likelihood ratios of ≤0.40 or ≥2.50 were not obtained by all three observers for any of the features. One or two observers obtained likelihood ratios of ≥2.50 for lacunar stromal hydrops, presence of trophoblastic hyperplasia. moderate to abundant trophoblastic hyperplasia, presence of trophoblastic lacunae, few intervillous fibrin deposits and few intervillous trophoblastic buds. Likelihood ratios of ≥0.40 were found for small chorionic villi and presence of basophilic staining. Lacunar stromal hydrops and trophoblastic lacunae were predictive of triploid karyotype, but not specific for any other type of chromosomal abnormality. After application of data previously obtained on Cohen kappas, lacunar stromal hydrops, moderate to abundant trophoblastic hyperplasia and presence of trophoblastic lacunae remained as possibly useful features, again mainly for identifying triploidy. Most of the items claimed to be related to abnormal karyotype, however, were not predictive at all.