无锡地区4761例育龄妇女TORCH检测的结果分析

因TORCH是导致先天性宫内感染并造成胎儿畸形或发育异常的几种病原体。指弓形体(TOXO),风疹病毒(RV),巨细胞病毒(CMV),单纯疱疹病毒(HSV-II)。母血一旦被TORCH感染不仅受孕有影响,而且还会出现早产、流产、死胎或畸形。为探讨早期诊断TORCH宫内感染的可行性,以及时了解和预防妊娠期TORCH感染,提高人口素质有重要意义。现就4761例育龄妇女检测情况报道如下。     

超声异常胎儿产前诊断及妊娠结局的研究

目的分析超声异常胎儿的产前诊断资料和妊娠结局以评估超声指标在产前筛查中的价值。方法选取2016年1月至2018年12月我院产前超声异常胎儿1182例产前诊断资料及妊娠结局进行回顾性分析。结果 1182例超声异常胎儿中检出染色体、基因和TORCH结果异常191例,检出率为16.16%,其中染色体异常检出率为9.42%(105/1115),数目异常占82.86%(87/105),主要为21-三体(51例)、18-三体(21例)和特纳综合征(8例);基因异常检出率为43.03%(142/330),其中致病性基因占25.35%(36/142),包括染色体正常胎儿14例;重型α地贫检出率为53.70%(58/108),检出--~(SEA)/--~(THAI)基因型1例(9.26,1/58);TORCH中仅检出CMV阳性9例,检出率为0.81%(9/1118)。1182例胎儿中有致病性遗产学因素、CMV感染合并畸形及有重大畸形的273例终止妊娠,12例流产终止妊娠,分娩的新生儿中包早产儿23例、死亡4例和缺陷儿5例,主要缺陷为先天性心脏病。结论超声异常胎儿与染色体异常、基因异常、先天性宫内感染及不良妊娠结局相关,应重视超声异常胎儿的产前诊断。     

河南三门峡地区妊娠早期TORCH感染情况的调查分析

TORCH是一组具有致畸作用并能引起先天感染的病原体。TORCH指弓形虫(toxoplasma,TOX)、风疹(rubella virus,RV)、巨细胞病毒(cytomegalovirus,CMV)及单纯疱疹病毒(herpes simplex virus,HSV)四种病原体的缩写形式,Nahmias等在上世纪七十年代首先描述了TORCH对胎儿的致畸作用。育龄妇女对TORCH普遍易感,自身感染后无明显症状或症状轻微,但可通过胎盘和脐带或产道感染胎儿,可引起胎儿早产、流产、宫内发育迟滞、畸形、死胎和新生儿死亡等,有     

孕妇TORCH感染对胎儿的影响

目的　探讨早期诊断TORCH宫内感染及对胎儿的影响。方法　采用酶联免疫吸附法 (ELISA)检测 75 0例妊娠妇女静脉血弓形体 (TOX)、风疹病毒 (RV)、巨细胞病毒 (HCMV)、单纯疱疹病毒 (HSV)简称TORCH的特异性抗体IgM和 4 1例TORCH -IgM阳性的孕妇其新生儿的配对脐血 ,并对孕早中期病理妊娠 (病理组 )与正常妊娠 (对照组 )各 5 0例标本进行对照。结果　孕妇TORCH -IgM阳性率为 10 5 3% ;病理组TORCH -IgM阳性率明显高于对照组 ;TORCH -IgM阳性组其早产、胎膜早破及胎儿宫内发育迟缓发生率显著高于阴性组 ;孕妇TORCH -IgM阳性其垂直传播率分别为TOX -IgM 2 8 5 7% ,RV -IgM 5 0 0 0 % ,HCMV -IgM 5 4 5 5 % ,HSV -IgM 30 77%。结论　 (1)孕期TORCH感染可垂直传播给胎儿 ,是导致流产、死胎、畸形 ,增加产科并发症的重要原因之一。 (2 )ELISA检测孕期TORCH感染有助于早期诊断宫内感染 ,便于临床及时干预。 (3)ELISA监测TORCH感染具有灵敏度高、特异性强、快速简便等优点 ,适合临床推广应用。     

浙江丽水市1185例育龄妇女TORCH感染情况分析

TORCH综合征(TORCH syndrome)也称TORCH感染。其中T指弓形虫(toxoplasma),R指风疹病毒(rubella virus),C指巨细胞病毒(cytomegalo virus,CMV),H指单纯疱疹病毒(herpes simplex virus,HSV),O指其他(Others),主要指梅毒螺旋体(treponema pallidum)等。妇女TORCH感染在怀孕期间通过胎盘或下生殖道传染给胎儿,可引起胎儿早产、流产、宫内发育迟滞、畸形、死胎和新生儿死亡等[1]。世界上许多发达国家已经将TORCH列为孕期常规检查项目,在优生优育方面发挥着重要作用。在国内,随着科学技术的发展和人民生活水平的提高,人们对优生优育的认识逐步提高,TORCH检测越来越受到重视。     

温岭地区孕妇TORCH感染及妊娠结局分析

采用酶联免疫吸附试验(ELISA)对温岭市4260例孕妇进行部分TORCH检测，三项(TO、RUV、CMV)阳性患者为109人，其中TO—IgM阳性率0．03％，RUV阳性率为2．18％，CMV阳性率为0．01％，三项总阳性率为2．56％。证实TORCH宫内感染是导致胎儿胚胎和胎儿自然流产的主要原因之一，同时也导致胎儿宫内死亡、畸形发生的主要原因。因此，进行必要的检测是防止胎儿宫内感染发生的重要手段。     

孕中期胎儿心血管畸形超声检测NT值与染色体核型检测的关系探讨

目的探讨孕中期胎儿心血管畸形超声检测NT值与染色体核型检测的关系。方法选取2015年1月至2017年12月因胚胎发育不良(心脏发育畸形或异常)于本院行产前检测的孕妇108例,所有产妇均于孕24~35w行超声NT检查和经腹脐静脉穿刺术取胚胎绒毛组织的染色体核型检测,观察染色体核型检测情况,分析染色体核型检测正常与异常胎儿的超声NT值差异,并采用spearman相关性分析法分析胎儿超声NT值与染色体核型检测是否正常的相关性。结果108例病例中,染色体核型检测正常者30例(27.78%),染色体核型检测异常者78例(占比72.22%)。染色体核型检测正常胎儿心血管超声NT层厚值(3.83±0.54mm)低于染色体核型检测异常胎儿(4.64±0.63mm)(P<0.05)。spearman相关性分析显示,胎儿超声NT值与染色体核型检测是否正常具有明显的负相关性(r=0.871,P=0.018<0.05)。15例继续妊娠至分娩的胎儿中,10例(包括7例染色体核型检查异常胎儿)出生后心脏功能发育异常(或畸形),其余5例出生后未出现心脏功能发育异常(或畸形),且随访至12个月仍未出现心脏功能发育异常(或畸形)。结论通过染色体核型检测对心血管畸形胎儿绒毛组织进行染色体核型检测,可发现染色体中小至100Kb片段的缺失或重复,也可发现潜在致病基因序列,孕中期胎儿心血管超声检测NT值与染色体核型检测是否正常具有明显相关性,可作为心血管发育畸形胎儿染色体核型检查的参考指标,超声检测NT检查和染色体核型检测在胎儿心血管畸形的临床诊断中均具有良好的前景。     

绍兴地区妊娠早期妇女TORCH感染调查分析

目的探讨绍兴地区妊娠早期妇女TORCH(Toxoplasma、Rubella Virus、Cytomegalovirus,CMV、HerpesimpiexVirus)的感染状况及其临床意义,为早期诊断和防治提供依据。方法采用抗体酶联免疫吸附试验法(ELISA法)检测11006例妊娠早期妇女血清中TORCH特异性抗体(IgM)阳性率。结果 HSV-IgM、CMV-IgM、TOX-IgM、RV-IgM的阳性感染率分别为1.42%、0.89%、0.50%、1.12%;两组妊娠结局:实验组自然流产、死胎、胎儿畸形、新生儿畸形等发生率明显高于对照组(P<0.005)。结论妊娠早期妇女TORCH检测可有效预防宫内感染及畸形胎儿出生,以提高优生优育质量。     

室间隔缺损胎儿的遗传学检测及预后分析

目的 分析71例VSD胎儿与染色体异常的关系及随访观察结果,为遗传咨询及胎儿预后提供依据。方法将2019年1月至2021年3月在新疆乌鲁木齐市妇幼保健院行超声提示VSD的71例孕妇,根据VSD是否合并心脏及心外畸形分为4个组,其中单纯VSD 37例、VSD合并心脏畸形17例,VSD合并心外畸形13例,VSD同时合并心脏及心外畸形4例,开展染色体核型及SNP-Array分析,比较四组胎儿染色体异常情况、引产率、室缺自然闭合及生长发育等。结果 71例VSD胎儿中13例染色体核型异常（18.31%）,16例芯片检测结果异常（22.53%）。VSD仅合并心外畸形组染色体核型异常率明显高于单纯室缺组（P<0.05）,VSD仅合并心外畸形组和VSD同时合并心脏及心外畸形组致病性CNV检出率明显高于单纯室缺组（P<0.05）。染色体核型正常胎儿中共检测出7例CNV(12.1%),其中致病性CNV为2例,意义不明CNV为5例。对71例患儿中有23例引产（32.4%）,单纯VSD引产率明显低于其他各三组（P<0.05）,单纯VSD组室间隔自然闭合率明显高于VSD仅合并心脏畸形组（P&l...     

探讨胎儿心脏畸形类型与染色体异常的关系

目的探讨胎儿心脏畸形类型与染色体异常的关系,为遗传咨询提供依据,更好的评估胎儿预后,指导临床处理。方法收集2014年1月至2016年12月因胎儿心脏结构畸形在我院行介入性产前诊断病例共146例,将病例分成心脏单发畸形、心脏复合畸形和心脏畸形合并心外畸形3组,所有病例均进行绒毛、羊水或脐血细胞培养染色体核型分析,20例染色体核型正常的CHD同时行CMA检测CNV。结果 CHD染色体核型异常发生率为17.81%(26/146),其中心脏单发畸形组染色体核型异常占6.25%(5/80),心脏复合畸形组和心脏畸形合并心外畸形组分别占30.77%(8/26)和32.50%(13/40),与心脏单发畸形组比较,差异均有统计学意义(P0.001);CMA检测CNV检出率为10%(2/20),将染色体异常检出率提高近2%。结论胎儿心脏畸形与染色体异常关系密切,特别是心脏复合畸形或心脏合并心外畸形,染色体异常检出率高,而CNV检测可以提高染色体异常检出率;因此,当产前超声诊断胎儿心脏畸形时,特别是心脏复合畸形或心脏合并心外畸形时,应建议行胎儿染色体核型分析及CNV检测,以更好的评估胎儿预后,为遗传咨询提供依据,减少染色体异常的CHD患儿出生。     

太原地区妊娠期感染TORCH的母婴传播及围产儿结局

目的：探讨妊娠妇女ＴＯＲＣＨ感染的母婴间传播及其围产儿不良结局。方法：收集８８６例孕妇的静脉血及其新生儿脐血,用ＥＬＩＳＡ法检测血清ＴＯＲＣＨ－ＩｇＭ抗体和ＨＢｓＡｇ及梅毒血清抗体。结果：孕妇血ＴＯＸ（弓形体）、ＲＶ（风疹病毒）、ＣＭＶ（巨细胞病毒）、ＨＳＶ－２（单纯疱疹病毒２型）ＩｇＭ抗体和ＨＢｓＡｇ,梅毒血清抗体的阳性率分别为０．２％、０．３％、１．７％、１．０％、０．７％、０．１％。２９例孕     

Rare detection of cytomegalovirus in severe fetal malformations in China

BackgroundCytomegalovirus (CMV) is a significant cause of fetal abnormalities in developed world. Whether this could be applied in developing world remains unknown.ObjectivesTo investigate CMV infection in severe fetal malformations in China.Study designDuring 2007–2014, 436 fetuses (237 males) with severe malformations and terminated pregnancy at median gestational age of 26⁺¹ weeks were enrolled. CMV DNA was detected in fetal kidneys and other tissues by real-time PCR, and CMV IgG and IgM were measured by ELISA.ResultsCMV DNA was positive in kidneys and other tissues of seven (1.60%) fetuses. Hematoxylin-eosin staining showed intranuclear and intracytoplasmic inclusion bodies in kidneys of three fetuses, which was also positive for CMV antigens in immunohistochemistry. CMV DNA was found in 5 (6.1%) of 82 fetuses with central nervous system anomalies, 1 (11.1%) of 9 fetuses with abdominal anomalies, 1 (0.59%) of 168 fetuses with multiple congenital malformations, and none of fetuses with other anomalies (177). Of 293 pregnant women with plasma available, 279 (95.2%) were CMV IgG positive only and 6 (2.1%) were CMV IgG and IgM positive. Of 5 mothers with infected fetuses 1 (20%) was CMV IgG and IgM positive, while 5 (1.7%) of 288 mothers with uninfected fetuses were positive respectively (P = 0.099).ConclusionsCongenital CMV infection in fetuses with severe congenital malformations is rare, indicating no close association between CMV infection and severe fetal malformations in China. Maternal screening for CMV may have minimal value in identifying fetal malformations in developing world.     

孕妇HCMV感染及妊娠结局分析

目的了解孕妇感染HCMV后对胚胎、胎儿及妊娠结局的影响.方法采用ELISA方法对4148例长沙地区孕妇进行TORCH-IgM检测.结果在对4148例长沙地区孕妇进行TORCH-IgM检测中,发现有62例孕妇为HCMV-IgM阳性,阳性率为1.5%.在随访的58例孕妇中,妊娠结局为自然流产者达31%(18/58);为死胎及胎儿畸形者达19%(11/58),显著高于其他异常妊娠结局者(P＜0.001).结论HCMV宫内感染是导致胚胎和胎儿自然流产的主要原因之一,同时也是导致胎儿宫内死亡、畸形发生的主要原因.因此,提高孕妇免疫能力,加强孕期健康教育,避免和减少易感因素的接触,是降低胎儿宫内感染的主要措施;另外,大力推广孕前优生检测也是防止胎儿宫内感染发生的重要手段.     

快速无创性产前诊断唐氏综合征的初步研究

目的建立快速无创性产前诊断唐氏综合征的有效诊断模式。方法从98名孕妇中筛选出12名高度怀疑唐氏妊娠者,当日流式细胞术分选母血中的胎儿有核红细胞（Fetal nucleated red blood cells,FNRBCs）,制备滴片后,次日进行多重引物原位杂交（muti—primed in situ labeling,multi—PRINS）检测胎儿细胞21号、Y染色体。结果均可在两日内得到诊断结论,诊断10例正常胎儿和两例男性唐氏综合征胎儿,与实际胎儿核型完全一致。结论流式分选母血中胎儿有核红细胞后多重PRINS技术检测细胞染色体可作为快速无创性产前诊断的有效模式,并可为其他非整倍体异常和单基因病的快速无创性产前诊断提供有效参考。     

Prenatal diagnosis of viral infections. A two year study in Strasbourg]

We report here the results of a 2-year study on the prenatal diagnosis of viral infections in Strasbourg. This screening was carried out by virus isolation, by PCR assay, or by detection of IgM fetal antibody for 98 pregnant women at risk of transmitting one of the viruses that causes fetal disease such as parvovirus B19 (B19), Herpesviruses [cytomegalovirus (CMV), varicella-zoster virus, herpes simplex virus] and rubella virus. A viral etiology was proven in 7 out 98 cases: PCR applied to B19 DNA detection was positive in 5 amniotic fluids (AF), 2 fetal serums and one ascitic liquid. The diagnosis of 2 cases of CMV infection was obtained by both PCR and virus isolation in AF from twins fetuses. The detection of specific IgM in maternal serum or fetal serum is useful to achieve the diagnosis but serological tests on other samples have no efficiency. No virus was found in any other specimen, but the genome of Toxoplasma gondii was detected by PCR in 1 of 17 AF samples analyzed at the Institut de Parasitologie. These findings show that PCR assay is a sensitive method for the positive diagnosis of intrauterine infection and promises to careful follow-up of the pregnancy.     

1318例发育异常和高危胎儿产前诊断及处理的结局分析

目的分析1318例发育异常和高危胎儿产前诊断及处理的结局,总结异常和高危胎儿产前诊断、围产期监护和处理、出生后衔接治疗流程,以探讨适合目前国内医疗水平的胎儿医学模式。方法对在本院和外院转送经常规产检筛查:发现孕期孕母高龄或血清唐氏风险高、TORCH感染、RH(-)、父母双方地贫携带者等孕期胎儿高危因素者1123例和B超影象发现结构异常的胎儿195例进行①介入性产前诊断检查染色体、TORCH等;②预后评估;③围产期监护;④分娩后衔接处理;⑤新生儿期跟踪处理;⑥定期随访与总结。结果产前诊断结果胎儿重型a地贫39/276,重型B地贫18/236;TORCH感染11/229例;母RH(-)5例,1/5例胎儿严重水肿引产,1/5例胎儿黄疸;染色体异常19例,其中7/377例为母高龄或血清筛查唐氏风险高,11/195例为胎儿结构异常;单纯胎儿结构异常62例引产放弃,2/195 TORCH感染,引产;120例期待观察,其中68例手术治疗,7例治疗失败,其余胎儿均获得良好愈后。结论异常和高危胎儿可通过产前诊断、医学评估、宫内监护、出生后治疗处理获得良好和合理结局。     

先天性心脏病心脏组织中TORCH病原基因的检测

目的 探讨先天性心脏病（CHD）心肌组织中TORCH各病原体（弓形体／TOX;风疹病毒／RV;单纯疱疹病毒／HSV2;巨细胞病毒／CMV）的感染状况。方法 通过收集42例先天性心脏病及38例对照组的心脏组织石蜡标本,用聚合酶链反应（PCR）或逆转录－聚合酶链反应（RT－PCR）技术进行病毒基因的检测。结果 在42例先天性心脏病心肌组织中检测到CMV、HSV、TOX的阳性率分别为26.2%、4.7%和16.7％,而例对照组中CMV、HSV2、TOX的阳性率分别为21.1%、2.6%和2.6%,丙组比较TOX在两组中的检测差异有显著性（P＝0.0378）,而CMV、HSV2在两组中无统计学意义（P＞0.05）。在30例先天性心脏病中RV的阳性率为23.3%,而20例对照均有性,两组间差异有显著性（P＝0.0328）。结论 从先天性心脏病的心脏组织中发现有TORCH病原体TOX、RV、CMV和HSV2基因存在,为从分子水平进一步进行TORCH病原感染与先天性心脏病关系的研究打下基础。     

胎儿先天性心脏畸形产前遗传学研究

目的 评估胎儿先天性心脏病(congenital heart diseases,CHD)遗传学异常情况,为孕期管理和遗传咨询提供依据.方法 对产前超声检查发现为先天性心脏畸形的胎儿共81例,采用绒毛活检/羊膜腔穿刺/脐静脉穿刺获取胎儿细胞,进行细胞培养染色体分析;对显带分析无染色体异常胎儿,采用短串联重复标记结合多重荧光定量PCR技术,检测其22q11.2区域微缺失和微重复情况,异常胎儿再用荧光原位杂交技术证实.结果 81例先天性心脏畸形胎儿,发现染色体异常34例,22q11.2微重复1例,总异常发现率为43.2%;合并心外畸形胎儿染色体异常率高于单纯心脏畸形胎儿(64.5%vs.28.0%).染色体异常中,18三体有19例,占染色体异常病例的54.3%.结论 先天性心脏畸形的胎儿染色体异常率高,尤以18三体最为常见;如合并心外畸形,染色体异常概率明显增加;对显带分析染色体正常胎儿则需进行22q11.2区域微缺失和微重复检测.先天性心脏畸形胎儿的遗传学检测有助于孕期管理和遗传咨询.     

Genetics: Intracytoplasmic sperm injection in infertile patients with structural chromosome abnormalities

In the present study we investigated the results of cyto-geneticanalysis in male and female patients included in an intracytoplasmicsperm injection (ICSI) programme for severe male infertilityas well as in conceptuses resulting from these ICSI treatments.In the 261 couples treated, 11 male (4.2%) and three female(1.2%) abnormal karyotypes were found, all consisting of structuralchromosome anomalies. Chromosomal translocation exhibited thehighest frequency (eight males and two females), and there werealso three cases of chromosomal inversion (two males and onefemale) and one male with one additional marker chromosome.There was no difference in fertilization rates among coupleswith abnormal (n = 14) and normal (n = 147) cytogenetic results,and the rates of clinical pregnancy per ICSI attempt were 25.0%(5/20) and 20.6% (78/378) respectively. In pregnancies obtainedin couples with normal karyotypes, all of the 108 fetuses werefree of chromosomal abnormalities. Among the eight fetuses fromcouples with chromosome structural anomalies, three out of fiveand two out of three inherited the cytogenetic defects foundin their father or mother respectively. In this series of 83ICSI pregnancies there were no chromosomal abnormalities otherthan those inherited from the parents. These findings suggestthat normal pregnancy rates can be obtained by ICSI in casesof chromosomal translocation in couples with severe male infertility.However, until further evaluations of available data can beperformed, cytogenetic analysis must be conducted prior to ICSIin men with low sperm counts, and genetic counselling must includeprenatal diagnosis for all growing conceptuses.     

Fetal ultrasound abnormalities: Correlation with fetal karyotype,autopsy findings,and postnatal outcome—five-year prospective study

A 5-year prospective prenatal study in 151 pregnancies with 152 malformed fetuses detected by ultrasound was evaluated cytogenetically. Thirty-five fetuses (23%) had abnormal karyotypes. Specific anatomical fetal malformations identified by ultrasound increase the risk for fetal chromosome abnormalities. Risks of abnormal chromosomes in the fetus are present with both single and multiple anomalies including amniotic fluid volume although the risk is increased with specific anatomical systems and multiple malformations. An abnormal fetal karyotype was present in 17% with a single anatomical abnormality and 30% when two or more anatomical systems were involved. Fetal hydrops, duodenal atresia, and omphalocele were the most specific single ultrasound anomalies; fetal hydrops, IUGR, holoprosencephaly, congenital heart disease, diaphragmatic hernia, duodenal atresia, and omphalocele were the most specific multiple anomalies with abnormal amniotic fluid volume. Termination of pregnancy occurred in 32/58 patients diagnosed prior to the 20th week of pregnancy with most (31/32) having a chromosomal anomaly or severe fetal anomaly. Fetuses terminated after the 20th week had chromosomal (7/18) or lethal fetal anomalies (11/18). The most common aneuploidies were trisomy 21, trisomy 18, and 45,X. The decision to terminate the pregnancy was based in most cases on the fetal ultrasound findings. Correlation of ultrasound and clinical findings is important for accurate genetic counselling. © 1992 Wiley-Liss, Inc.