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。     

经腹绒毛取样侵入性产前诊断60例报告

目的总结早孕期经腹绒毛取样(transabdominal chorionic villus sampling,TA-CVS)操作的适应证、并发症及胎儿结局。方法选取该院门诊孕妇60例,单胎妊娠,平均年龄(29.27±4.1)岁,平均孕周(12.61±0.86)周。手术适应证为胎儿染色体异常高危因素20例;双亲同型地贫携带者42例。无手术禁忌证,术前测量体温、血压、脉搏。超声引导TA-CVS,52例标本送染色体核型分析(染色体高危因素20例,因地贫基因诊断而同时送检32例),42例送检地中海贫血基因(β-地贫11例,α-地贫31例)。结果检出β-地贫双重杂合子或纯合子6例,重型α-地贫8例,血红蛋白H病6例。7例超声检测胎儿水肿/颈部囊性水囊瘤中检出常染色体三体3例。无手术并发症。1例术后2周流产,流产率为1.67%。结论 TA-CVS的优点在于早诊断、早干预,且胎儿丢失率低。主要产前诊断适应证是单基因遗传病和早孕期超声检测异常病例的染色体病检出。     

羊水细胞高通量测序与染色体核型分析在产前诊断中的应用研究

目的通过高通量测序技术(即下一代测序技术,next generation sequencing,NGS)检测孕妇羊水细胞DNA,与染色体核型分析进行对比,探索NGS在羊水细胞产前诊断中的应用价值。方法选取孕龄在18~24周之间的高龄妊娠、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101例,抽取孕妇羊水,提取羊水细胞DNA,制备测序文库,应用Ion Proton测序仪检测,所得的DNA序列与人类DNA参考数据库比对并作统计分析,并与同一样本染色体核型分析进行对照分析。结果 101例羊水样本处理后经NGS技术检测判定2例染色体数目异常,37例染色体片段缺失/重复;羊水细胞培养检出2例染色体数目异常,2例9号染色体臂间倒位,2例多态性。结论利用高通量测序技术检测孕妇羊水中DNA诊断胎儿染色体数目异常,其特异性与染色体核型分析技术具有较高的一致性,并可检测出缺失/重复。染色体核型分析技术与高通量测序技术相结合在检测出生缺陷上具有较好的临床实际应用价值,并可进一步展开对疾病候选基因的研究。     

剖宫产率及剖宫产指征变化的临床分析

近年来,剖宫产率日趋上升,但剖宫产率增加到一定程度并不能使围生儿死亡率下降.本文对近8 a我院的剖宫产率及剖宫产指征进行分析,为降低剖宫产率探索可行的办法.     

影响剖宫产率及剖宫产指征因素的临床分析

目的 探讨降低剖宫产指征中的社会因素剖宫产率的措施,为制定降低剖宫产率的具体措施提供资料.方法 对2006～2008年间产科住院产妇的足月分娩病例进行回顾性分析.结果　剖宫产率呈逐年上升趋势,胎儿宫内窘迫、臀位、头盆不称、社会因素的比例逐年增加.结论 目前剖宫产手术指征已远远超过单纯医学指征范围,剖宫产率升高主要原因为无医学指征的社会因素增加.胎儿宫内窘迫和头盆不称诊断过度也是剖宫产术增多的重要因素,来自孕妇及医生的主观意愿,影响对分娩方式的合理选择.降低剖宫产率的关键是严格掌握剖宫产指征,尽量减少人为因素的剖宫产.     

剖宫产率、剖宫产指征变化及其与围生儿结局的关系

1997～2006年,山东侨联医院共实施剖宫产1 747例.前5 a剖宫产率为20.59%,后5 a为54.27%,二者相比,P<0.01;前5 a剖宫产指征顺位前三位分别为难产(54.41%)、臀位(10.29%)、胎儿窘迫(8.82%),后5 a为胎儿窘迫(30.91%)、难产(23.40%)、社会因素(15.63%),构成比中以胎儿窘迫及社会因素的上升为主;前5 a新生儿窒息率为8.87%,后5 a为3.78%,二者相比,P<0.01;前5 a围生儿病死率为10.67‰,后5 a为9.83‰,二者相比,P>0.05.认为10 a间剖宫产率显著上升,剖宫产指征发生了明显变化,主要原因是胎儿窘迫的诊断率及以胎儿窘迫为指征的剖宫产率大幅升高,社会因素导致的剖宫产率上升也很明显;剖宫产率的上升降低了新生儿窒息率,但对围生几病死率无明显影响.     

性发育异常患者的染色体核型、SRY基因及其序列分析

目的观察性发育异常患者的染色体核型、性别决定基因（SRY基因）表达及其序列变化。方法采用G显带方法分析29例性发育异常患者的性染色体核型,用PCR技术扩增其SRY基因,并对其中6例两性畸形患者扩增的SRY基因进行测序。结果 6例两性畸形患者中2例染色体核型为45,X/46,XY,3例为46,XY,其SRY基因阳性,直接测序未发现SRY基因突变;1例核型为46,XX,SRY基因阴性。16例Klinefelter综合征患者染色体核型为47,XXY,1例Klinefelter综合征患者染色体核型为46,XY/47,XXY,其SRY基因均阳性;6例Kallman综合征患者染色体核型为46,XY,其SRY基因均阳性。结论大部分性发育异常患者的染色体核型异常;SRY基因阳性两性畸形患者的SRY基因序列未见异常。     

急性淋巴细胞白血病49例染色体核型和免疫分型的分析

目的探讨急性淋巴细胞白血病(ALL)患者染色体异常及免疫分型与疗效的关系。方法对49例ALL患者骨髓进行染色体及免疫分型分析。结果儿童ALL伴有t(9;22)异常核型的检出率明显低于成人ALL(P0.05),但疗效差异无统计学意义(P0.05);伴有t(9;22)的异常核型与正常核型ALL疗效比较差异有统计学显著意义(P0.05);伴或不伴有髓系抗原表达的ALL疗效比较差异无统计学意义(P0.05)。结论 ALL患者染色体核型异常的检出率较高,较常见的核型异常为t(9;22);核型异常与疗效有一定的关系,伴有t(9;22)核型异常的ALL疗效差,而其它异常核型的ALL疗效间差异无统计学意义(P0.05)。     

556例产前无创DNA检测结果呈假阳的孕产妇受检指征及部分病例胎盘组织和母血染色体分析

目的 对556例产前无创DNA检测结果呈假阳的孕产妇的临床检测指征及部分病例的胎盘组织和母血进行染色体核型分析,以总结更优的检测指征,明确假阳性原因。方法 NIPT结果假阳性孕产妇556例,均进行产前胎儿染色体核型分析确诊,其中34例孕产妇留取胎盘组织和母血进行假阳性原因验证。回顾性分析NIPT结果假阳性的孕产妇人群受检指征及结果异常原因。结果 NIPT结果假阳性人群中,高龄、唐筛高风险、唐筛临界风险、NT增厚、超声软指征异常、超声结构异常、双胎/IVF-ET妊娠、错过血清学筛查时机、自愿要求、介入手术禁忌以及除外上述指征的其他分别为235、16、105、3、2、3、17、1、157、0、17例,构成比分别为42.27%、2.88%、18.88%、0.54%、0.36%、0.54%、3.06%、0.18%、28.24%、0.00、3.06%。生后假阳性原因验证结果：母体染色体嵌合17例（50.00%）,母体染色体拷贝数异常10例（29.41%）,限制性胎盘嵌合（指染色体异常仅发生在形成胎盘的细胞系中而未发生在形成胎儿的细胞系中）7例（20.59%）。其中NIPT检测结果性染色体异常的假...     

Y染色体非重组区HindⅢ酶切位点多态性与老年男性原发性高血压的关系

目的探讨Y染色体非重组区HindⅢ酶切位点多态性与老年男性原发性高血压的关系。方法入选60岁以上男性254例,其中正常人群(对照组)85例,原发性高血压患者(高血压组)169例。常规方法提取白细胞DNA。采用多聚酶链反应结合限制性内切酶(HindⅢ)方法检测Y染色体HindⅢ酶切位点多态性。结果对照组Y染色体HindⅢ酶切位点多态性与原发性高血压组基因型存在显著性差异(P=0.02),高血压病患者HindⅢ(-)基因型增多。HindⅢ(+)基因型较HindⅢ(-)基因型收缩压(145.1±25.7)mm Hg(1 mm Hg=0.133 kPa)vs(154.1±24.8)mm Hg,P=0.006,平均动脉压(105.9±15.4)mm Hgvs(110.7±14.9)mm Hg,P=0.019,脉压(58.8±17.6)mm Hgvs(65.1±18.7)mm Hg,P=0.007均明显降低。结论Y染色体HindⅢ酶切位点多态性与老年男性原发性高血压有关,其可能是老年男性原发性高血压的一个遗传标志。     

蓝氏贾第鞭毛虫染色体核型初步观察

目的初步观察蓝氏贾第鞭毛虫细胞分裂过程中典型凝集染色体的形成及其数目。方法用改良TYI-S-33培养基培养贾第虫滋养体。在结束培养前4h弃去旧培养基,加入事先预热的含有秋水仙素(终浓度为0.2μg/ml)的新鲜培养液。低渗处理55min,用甲醇∶冰醋酸(体积比=3∶1)固定液固定。收集细胞、滴片、Giemsa染液染色,光学显微镜观察结果。结果获得了较好的染色体分裂相。贾第虫染色体的数目多数为2n=8条。50个细胞分裂相中,有35个为8条染色体,10个为9条染色体,5个为10条染色体。染色体微小呈小杆状,有时成对,形态相同。结论蓝氏贾第鞭毛虫在分裂过程中形成典型的凝集染色体,染色体数目为2n=10条。     

Surgical treatment for severe coronary heart disease--its indication and result

There still remain several controversies in the treatment of severe coronary heart disease. We examined 147 patients who underwent surgery during the past 6 years. These patients were classified into the following 4 groups: 1) patients with serious mechanical complications, such as ventricular septal perforation and cardiac rupture, in the acute stage of myocardial infarction (11 patients), 2) unstable angina (45 patients), 3) those with congestive heart failure (15 patients) and 4) stable angina with left main trunk and/or triple-vessel disease (76 patients). Surgical mortality rates in each group were 45.5, 11.1, 6.6 and 3.9%, respectively. It was concluded: 1) In the patients with mechanical complications in acute myocardial infarction emergency surgery should be undertaken even in the acute stage, if cardiogenic shock has deteriorated despite the use of intraaortic balloon pumping. 2) The necessity of urgent surgery of patients with unstable angina who have severe organic lesions is self-evident. In some patients, however, coronary vasospasm played a significant role in its clinical manifestations and surgery at this stage was not satisfactory. Medical treatment should precede the surgery. 3) In patients with early symptoms of congestive heart failure surgery should be performed before heart failure ensues. 4) Results of the surgery for stable angina with left main trunk and/or triple-vessel disease were satisfactory.     

Hypertransaminasemia: indication for the diagnosis of celiac disease

A high percentage of diagnosed cases of coeliac disease are oligosymptompatic. Various atypical manifestations such as hypertransaminasemia may guide diagnosis when the disease is suspected. We present two cases of coeliac disease, which were diagnosed on the basis of hypertransaminasemia of unknown origin. One of the patients lacked the gastrointestinal symptoms suggestive of disease. We also retrospectively review (January 1990-December 1998) all the cases of coeliac disease diagnosed in our center in order to establish the frequency of liver enzyme alterations in patients with coeliac disease and their evolution on a gluten-free diet. The importance of sprue suspicion in guiding diagnosis in patients with cryptogenic hypertransaminasemia is highlighted as is the need to rule out underlying liver disease in coeliac patients with persistent hypertransaminasemia after withdrawing gluten from the diet.     

Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency

Summary Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency is a group of rare and severe diseases. Prenatal diagnosis of dihydropteridine reductase and pyruvoyltetrahydropterin synthetase deficiencies can be achieved by enzyme assay in cultured fluid cells and/or fetal blood. In contrast, prenatal diagnosis of GTP cyclohydrolase deficiency can only rely on the measurement of pterin metabolites in the amniotic fluid.A pregnancy at risk for GTP cyclohydrolase deficiency was investigated. HPLC analysis of amniotic fluid pterins revealed neopterin and biopterin concentrations below the lowest limit of normal age-matched gestations. The mother refused abortion. The early follow-up of the child confirmed the diagnosis of GTP cyclohydrolase deficiency (hyperphenylalaninaemia, abnormal profile of urinary pterins and neurological deterioration).     

Gene analysis and prenatal diagnosis for two families of congenital factor V deficiency

Summary. We studied two families in which the probands had severe bleeding tendency and showed low plasma levels of coagulation factor V (FV) antigen and activity. Sequence analysis of the FV gene on proband 1 demonstrated a novel G16088C homozygous missense mutation in exon 3 resulting in an Asp 68 to His substitution and on proband 2, a C69969T homozygous missense mutation in exon 23 leading to Gly2079Val. The parents of both families were each heterozygous for the corresponding FV gene defect. During their second pregnancy, the two families requested prenatal diagnosis. Chorionic villi were analysed at 12 weeks of gestation and cord blood samples were tested at 22 weeks. Microsatellite analysis performed in family 1 showed that the foetus sample was not contaminated by maternal tissue. The foetus 1 was found to be heterozygous for the familiar G16088C mutation with lower FV activity in the cord blood; the foetus 2 was a normal one. The diagnosis was confirmed after the birth. This is the first report of prenatal diagnosis for FV deficiency.     

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。     

Citrullinaemia: The possibility of prenatal diagnosis

Argininosuccinate synthetase activity in amniotic fluid cells from a fetus at risk for citrullinaemia was low compared to the activity in amniotic fluid cells from a normal fetus, but five times the activity in fibroblasts from a patient with citrullinaemia. These enzyme values indicated a normal or heterozygous fetus. Chromosome analysis of the amniotic fluid cells from the fetus at risk, however, showed an unusual X/20 translocation. As we could not guarantee the delivery of a normal child, the parents chose to have a therapeutic abortion. Argininosuccinate synthetase activity in the liver and kidney of the aborted fetus was in the normal and heterozygous range respectively, confirming the prenatal diagnosis. The activity in the father's fibroblasts was low, less than 10% of normal. The difficulty of interpreting the results of prenatal diagnosis in such a family and the importance of studying parental cells are discussed.