妊娠中、晚期高危孕妇胎儿血染色体核型分析

1998～2002年，我们对38例高危孕妇进行孕中、晚期产前诊断，抽取胎儿血进行染色体检查，发现染色体异常核型13例，染色体多态变异2例。现报告如下。     

72例孕早期NT增厚胎儿的染色体核型及妊娠结局分析

目的 分析孕早期颈部透明层(NT)增厚胎儿的染色体核型及妊娠结局.方法 选择2019-01～2020-04在玉林市妇幼保健院优生遗传科就诊的NT增厚(NT≥2.5 mm)胎儿72例,均于妊娠早期经超声检查确诊,并行绒毛染色体核型检测.分析NT增厚情况与染色体核型及胎儿妊娠结局的关联性.结果 在72例NT增厚胎儿中,检出...     

392例孕妇羊水产前诊断及其妊娠结局分析

应用羊膜腔穿刺及羊水细胞培养染色体分析技术对397例孕中期孕妇进行胎儿染色体核型分析并随访妊娠结局。结果穿刺失败2例,羊水细胞培养失败3例。胎儿染色体异常检出率为2.55％（10／392）,随访成功率为91.07％（357／392）,不良妊娠结局（胎膜早破／早产、妊娠期高血压病、妊娠期糖尿病、妊娠期肝内胆汁淤积症、胎儿生长受限、前置胎盘、羊水过少、死胎、畸胎等）发生率为31.37％（112／357）。认为染色体异常检出率的高低与产前诊断指征有关。B超异常、高龄及母血清筛查高风险者不良妊娠结局发生率明显增加。     

FISH在产前羊水细胞染色体数目异常诊断中的应用观察

目的观察应用荧光原位杂交（FISH）技术产前诊断羊水细胞染色体数目异常的效果。方法唐氏综合征筛查高危或高龄（≥35岁）孕妇1 121例,经腹部穿刺抽取羊水,应用FISH技术进行羊水细胞染色体数目检测,并将其结果与羊水细胞常规G显带核型分析结果作比较。结果均获得诊断结果,发现16例异常胎儿,其中7例为21三体,4例为18三体,5例为其他异常。FISH检测与核型分析结果一致。结论用FISH产前诊断羊水细胞染色体数目异常效果满意。     

妊娠合并心脏病66例临床分析

目的：探讨妊娠合并心脏病患者心功能对妊娠结局的影响。方法：对我院1997～2004年66例妊娠合并心脏病患者的临床资料进行回顾性分析。结果：（1）妊娠合并心脏病患者以风湿性心脏病居多（42．4％），其次为先天性心脏病（21.2％），然后为不明原因心律失常，心肌炎后遗症及围产期心肌病；（2）NYHA心功能Ⅲ～Ⅳ级者，母亲死亡率40％（6／15），围产儿死亡率13．3％（2／15）。结论：围产期NYHA心功能Ⅲ～Ⅳ级的心脏病产妇死亡率明显增加。     

妊娠高血压综合征并发妊娠肾病综合征22例临床分析

目的探讨分析妊娠肾病综合征临床特点和治疗方法.方法采用回顾分析方法,对2001年3月-2005年3月收治的22例妊娠高血压综合征(妊高征)并发妊娠肾病综合征与167例妊高征临床资料进行比较.结果妊娠肾病综合征发病孕周(27.8周)早于妊高征(31.4周,P<0.05).妊娠肾病综合征低蛋白血症发病率(100.0%),明显高于妊高征(42.0%,P<0.01).妊娠肾病综合征24 h尿蛋白定量(7.5 g/24 h)明显高于妊高征(4.1 g/24 h,P<0.05).妊娠肾病综合征血清清蛋白浓度(26.9 g/L)明显低于重度妊高征(30.6 g/L,P<0.05).妊娠肾病综合征胆固醇浓度(9.17 mmol/L)明显高于妊高征(7.4 mmol/L,P<0.05).妊娠肾病综合征新生儿出生体重(1 490 g)与妊高征(2 640 g)相比,有统计学意义(P<0.01).结论妊娠肾病综合征发病早,病情重,严重威胁孕产妇和胎儿安全.     

妊娠期糖尿病产前治疗对妊娠结局的影响

目的 研究妊娠期糖尿病不同产前治疗方法对妊娠结局的影响。方法 回顾性选取2019年2月—2022年2月泉州市中医院妇产科收治的280例妊娠期糖尿病产妇为研究对象。以不同产前治疗方法为标准,将其分为观察组(实施综合产前治疗措施,140例)和对照组(实施常规产前治疗措施,140例)。对两组产妇不良事件发生率、胎儿不良妊娠结局发生率、血糖指标水平进行比较。结果 对照组产妇不良事件发生率14.28%,胎儿不良妊娠结局发生率13.57%,FPG(7.59±1.17)mmol/L、2 hPG(10.16±1.68)mmol/L水平均高于观察组,差异有统计学意义(χ²=5.035、4.038,t=14.786、14.578,P<0.05)。结论 妊娠期糖尿病产前治疗对妊娠结局具备积极影响,既能规避胎儿不良妊娠结局风险,又能促进产妇顺利分娩,抑制产后出血等情况的出现,并且采用包含饮食指导、运动疗法、控糖治疗的综合治疗措施的产前治疗方法效果更好。     

妊娠晚期生殖道感染检测分析及对妊娠结局的影响

目的分析妊娠晚期生殖道微生物感染状况及其对妊娠结局的影响,为临床防治提供理论依据。方法选取2015年3月—2019年3月我院收治的286例妊娠晚期妇女为研究对象,入组孕妇均进行生殖道病原微生物感染的检测,分析生殖道微生物感染状况,并观察妊娠晚期生殖道感染对妊娠结局的影响。结果入组286例妊娠晚期妇女,52例(18.18%)出现生殖道病原微生物感染,其中2.10%(6/286)为滴虫感染,11.89%(34/286)为解脲支原体感染,1.40%(4/286)为沙眼衣原体感染,6.64%(19/286)为假丝酵母菌感染,共11例合并有2种或2种以上微生物感染,占3.85%;此外,妊娠晚期生殖道存在微生物感染者早产、胎膜早破、产褥期感染、胎儿窘迫、新生儿窒息和新生儿感染等不良妊娠结局发生率均明显高于无微生物感染者(P均<0.05);多重微生物感染者早产发生率明显高于单一微生物感染者(P<0.05);治愈组不良妊娠结局发生率明显低于无效组(P<0.05)。结论妊娠晚期生殖道微生物感染以解脲支原体、假丝酵母菌较为常见,且妊娠晚期生殖道微生物感染会增加孕妇不良妊娠结局发生风险,多重微生物感染会增加妊娠妇女的早产发生率,临床上可据此为妊娠期妇女制定合理的防治方案,对确保母婴良好结局有重要临床意义。     

沈阳地区962例孕妇羊水细胞染色体异常产前诊断的分析

目的分析在羊水中染色体异常核型与产前诊断指征的关系。方法回顾性分析该院产前诊断中心2012-01~2012-12共962例孕妇的羊水穿刺产前诊断指征和染色体异常结果资料。结果羊水染色体培养成功率99.7%。发现异常核型45例(4.6%),其中常染色体三体(13-三体、18-三体、21-三体等)11例(1.1%);性染色体5例(0.5%),结构异常20例(2.1%),嵌合体9例(0.1%),正常染色体核型中发现染色体多态性改变56例(5.8%)。结论沈阳地区羊水染色体异常核型检出率较高,具有产前诊断指征的孕妇行胎儿羊水染色体诊断对防止先天缺陷有实用性价值。     

Prenatal lethality in a transgenic mouse line is the result of a chromosomal translocation.

We have produced a line of transgenic mice that is characterized by prenatal lethality. These mice bear a chimeric plasmid containing the long terminal repeat of the Rous sarcoma virus linked to the coding region of the chloramphenicol acetyltransferase gene (pRSV-CAT). Mice heterozygous for the pRSV-CAT integration site are semisterile, producing litters approximately equal to 40% of the average size when crossed to normal mice. Approximately 50% of the progeny from such a cross bear the pRSV-CAT sequences and also produce litters of smaller size. An analysis of embryogenesis revealed that normal numbers of embryos implanted, but 60% failed to develop past day 7. Eight other independent transgenic lines containing RSV-CAT show no evidence of embryonic lethality; thus, it is unlikely that the defect observed is due to the direct effects of RSV-CAT expression. We have found that carrier mice bear a reciprocal translocation between chromosomes 6 and 17, T(6A2-6A3;17D-17E1), that can explain the apparent dominant embryonic lethality seen in this line. The site of integration has been localized by in situ hybridization at or near the translocation breakpoint in one of the translocated chromosomes (6(17)). Because the foreign DNA is present in one of the translocated chromosomes, we propose that this rearrangement was elicited by the introduction of foreign DNA.     

Evaluation of bone disease in multiple myeloma patients carrying the t(4;14) chromosomal translocation

T(4;14) chromosomal abnormality is one of the most adverse prognostic factors predicting for poor outcome in multiple myeloma (MM) patients. It has been recently suggested that bone disease, as evaluated by spinal magnetic resonance imaging (MRI), is relatively infrequent in these patients. In the present study, we aimed at further testing this hypothesis by analyzing the extent of whole bone involvement in patients showing t(4;14) chromosomal translocation as compared with negative patients. For this purpose, 53 consecutive newly diagnosed MM patients (35M, 18F, median age = 55 yr) underwent evaluation of total skeletal X-ray, whole spine MRI, and at the same time, quantification of markers of bone resorption (urinary N-terminal telopeptide, pyridinoline, deoxypyridinoline, serum crosslaps), and bone formation (bone alkaline phosphatase and osteocalcin) was performed. The presence of IgH/MMSET fusion gene as a surrogate marker for t(4;14), was detected in 11 patients (20.7%), whose clinical characteristics were similar to those observed in t(4;14) negative patients. The type of marrow involvement at spinal MRI (diffuse vs. focal vs. negative) was the same in both groups of patients, even though overt vertebral fractures were more frequently found in t(4;14) positive cases (82% vs. 43%, P = 0.05); in line with this finding, skeletal lesions were more common in t(4;14) positive patients (mean skeletal score = 8.54 +/- 1.36 SE, as compared with 3.42 +/- 0.57 SE in t(4;14) negative cases, P = 0.000). These data were confirmed by the evaluation of serum crosslaps, that were significantly increased in patients with t(4;14) abnormality as compared with negative individuals (10,400 pmol/L +/- 2160 SE vs. 5640 pmol/L +/- 859 SE P = 0.02) Our results indicate that, at variance to what has been previously reported, bone resorption is more prominent in t(4;14) positive patients.     

基因组测序技术应用于产前诊断胎儿染色体异常的研究

目的探讨基因组测序技术在产前诊断胎儿染色体异常中的价值。方法选取2013-12~2014-05在广西壮族自治区人民医院就诊,孕龄在18~24周的高龄妊娠、唐氏综合征生化筛查高风险和(或)彩超显示胎儿异常并同意产前诊断的孕妇60例,抽取孕妇羊水,提取羊水DNA,制备测序文库,应用Ion Proton测序仪检测,所得的基因序列与人类的参考基因组比对并作统计分析。并与同一样本经细胞培养后进行染色体核型分析进行对照分析。结果 60例羊水样本处理后经大规模平行基因组测序技术检测判定3例为染色体拷贝数异常,57例无明显异常;以羊水细胞染色体核型分析为对照,检出6例异常结果。结论利用大规模平行基因组测序技术检测孕妇羊水中DNA诊断胎儿染色体异常,其特异性与染色体核型分析技术具有较高的一致性。该技术具有高准确性、高通量、高灵敏度和低成本等优点,具有临床实际应用价值。     

Prenatal diagnosis of hemoglobinopathies by DNA analysis

Restriction site polymorphisms are normal inherited variations in DNA that can be readily detected by restriction endonuclease analysis. Currently, 17 such polymorphisms are recognized within a 60 kb (kilobase) stretch of DNA which includes the beta-globin gene complex. Because of their proximity to the beta-globin gene, often these restriction site polymorphisms can be used to predict inheritance of beta-globin variants that produce disease. For example, restriction site polymorphisms can be used for prenatal diagnosis for the large majority of couples at risk of having a child with beta-thalassemia. When each member of such a couple is heterozygous at one or more of these 17 sites, family studies are usually successful in determining which forms of the polymorphism are co-inherited with the beta-thalassemia genes in that particular family. Subsequently, study of fetal DNA isolated from amniocytes obtained by midtrimester amniocentesis or from chorionic villi obtained by first trimester chorion biopsy will reveal which DNA polymorphisms that fetus has inherited. By deductive reasoning one can then predict which beta-globin genes it has co-inherited. Because of the general nature of these polymorphisms, which are related to the beta-globin gene and its variants only because of their proximity on chromosome 11, they are potentially useful in the prenatal diagnosis of any beta-chain hemoglobinopathy. Some hemoglobinopathies (including alpha-thalassemia, sickle cell anemia, and some cases of beta-thalassemia) can be detected directly by DNA analysis. In these cases in utero diagnosis does not need to rely on restriction site polymorphisms, which require preliminary family studies and are not applicable in all at risk pregnancies. Recently, genetic probes, which are necessary for detecting restriction site polymorphisms, have been isolated for sequences of several genes whose protein products are important in blood coagulation. These include probes for all three genes whose polypeptide products combine to form the fibrinogen molecule as well as probes for the prothrombin, Factor IX, Factor VIII, and antithrombin III genes. Defects in these genes are expected to be the causes of afibrinogenemia, prothrombin deficiency, hemophilia B, hemophilia A, and antithrombin III deficiency, respectively. From experience with other genes, it is expected that restriction site polymorphisms within and/or flanking these genes will be found.(ABSTRACT TRUNCATED AT 400 WORDS)     

Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy

Summary A diagnosis of infantile sialic acid storage disease was made in an infant who died aged 17 months. In the mother's next pregnancy no morphological or biochemical abnormality was found in chorionic villi, amniotic fluid, cultured amniotic fluid cells or fetal blood and a normal boy was born. In the subsequent pregnancy an ultrasound scan revealed a twin pregnancy. Chorionic villus samples were obtained from both twins and microscopic and biochemical analysis indicated one twin to be affected with sialic acid storage disease. Selective fetocide was performed. The unaffected twin proceeded to term.     

住院患者多重耐药菌监测状况分析

目的了解我院住院患者多重耐药菌分布特点及耐药情况。方法收集我院2014年1月1日-12月31日住院患者送检微生物室的各类标本,以分离出的非重复细菌为研究对象,菌株鉴定采用法国生物梅里埃VITEK-2系统进行,根据美国临床实验室标准化协会标准判断多重耐药菌。使用SPSS19.0软件进行数据分析。结果 2014年1月1日-12月31日住院患者各类标本分离出非重复细菌为8068株,其中多重耐药菌为4675株,占57.94%,重点监测的6种多重耐药菌占比分别为耐碳青霉稀类的鲍曼不动杆菌占14.35%(671/4675)、耐碳青霉稀类的铜绿假单胞菌占10.37%(485/4675)、耐甲氧西林的金黄色葡萄球菌(MRSA)占11.55%(540/4675)、耐碳青霉稀类的肺炎克雷伯菌占3.89%(182/4675)、耐碳青霉稀类的大肠埃希氏菌占2.46%(115/4675)、耐万古霉素肠球菌(VER)占1.05%(49/4675)。检出多重耐药菌株最多的前3位科室分别为综合ICU 25.18%(1177/4675)、呼吸内科17.18%(803/4675)、干部病房15.25%(713/4675)。结论住院患者多重耐药菌检出率较高,尤其是耐碳青霉烯类杆菌的检出较高,定期进行细菌耐药监测可以为临床抗生素使用提供依据。