短重复序列在妊娠早期苯丙酮尿症产前诊断中的应用

目的:在妊娠早期寻找一种简便、快速的苯丙酮尿症(PKU)产前诊断方法,尽可能早地防止苯丙酮尿症患儿的出生。方法:分别从来自9个经典型苯丙酮尿症家庭成员的外周血和9个胚胎的绒毛组织中提取DNA(采用绒毛取材法吸取绒毛组织)。通过分析家庭成员独立的短重复序列(STR)等位基因,并利用多聚酶链反应(PCR)和变性凝胶电泳(DGGE)结合银染色对这9个家庭的胚胎进行产前诊断。结果:9个胚胎中,1例为PKU,2例为正常胚胎,5例为携带者。结论:在妊娠早期应用STR分析可进行苯丙酮尿症的产前诊断是切实可行的。这种方法在中国人群中具有广阔的应用前景。     

Outcome of 1355 consecutive transabdominal chorionic villus samplings in 1351 patients

Mipdre-tnriamtaels tdeirag naomsntiicoc epnrotecseidsur ies th arou wghell -wehstiacbhli sfheteadl samples are retrieved for chromosomal or genetic studies· The major disadvantage of amniocentesis is that the result is usually available after 18 weeks of gestation·Early amniocentesis before 14 weeks has been shown to be associated with a significantly higher fetal loss rate and therefore should no longer be practiced·1On the other hand, first trimester transabdominal chorionic villus sampli…     

Prenatal diagnosis of trisomy 9

We present a foetus affected by trisomy 9, a rare chromosomal disorder, which was diagnosed in a low-risk patient during the first trimester of pregnancy. The finding of multiple structural foetal anomalies at the first trimester screening prompted chorionic villus sampling. Evaluation of the quantitative fluorescent polymerase chain reaction was normal, but the final karyotype result revealed a diagnosis of trisomy 9. First trimester screening for detection of foetal anomalies is highly effective. Although rapid molecular methods are available for prenatal diagnosis of common autosomal and sex chromosome aneuploidies, it is essential to obtain a full karyotype in order to exclude the less commonly encountered chromosomal abnormalities.     

中孕B超产前检查联合母血清标记物对21-三体综合征的临床诊断价值

目的:探讨中孕B超产前检查出现阳性征,及联合母体血清标记物指标:甲胎蛋白(AFP)、游离雌三醇(uE3)、血清总β绒毛膜促性腺激素(hCG)的含量检查对21-三体综合征的产前筛查和诊断的可行性、有效性和必要性.方法:回顾了中孕B超产前检查联合母血清标记物对21-三体综合征检出率.结果:中孕B超产前检查的阳性征,联合母体...     

Periodic health examination, 1996 update: 1. Prenatal screening for and diagnosis of Down syndrome. Canadian Task Force on the Periodic Health Examination.

OBJECTIVE: To make recommendations to physicians providing prenatal care on (1) whether prenatal screening for and diagnosis of Down syndrome (DS) is advisable and (2) alternative screening and diagnosis manoeuvres. OPTIONS: "Triple-marker" screening of maternal serum levels of alpha-fetoprotein, human chorionic gonadotropin and unconjugated estriol; fetal ultrasonographic examination; amniocentesis; and chorionic villus sampling (CVS). OUTCOMES: Accuracy of detection of DS in fetuses, and risks to the mother, including psychologic distress, and to the fetus from the screening and diagnostic interventions. EVIDENCE: A MEDLINE search for relevant articles published from Jan. 1, 1966, to Mar. 31, 1994, with the use of MeSH terms "Down syndrome," "prenatal diagnosis," "screening," "prevention," "amniocentesis," "chorionic villus sampling," "ultrasonography," "anxiety," "depression" and "psychological stress" and a manual search of bibliographies, recent issues of key journals and Current Contents. VALUES: The evidence-based methods and values of the Canadian Task Force on the Periodic Health Examination were used. A high value was placed on providing pregnant women with the opportunity to determine whether they are carrying a fetus with DS and to make choices concerning the termination of the pregnancy. The economic issues involved are complex and were not considered. BENEFITS, HARMS AND COSTS: Triple-marker screening identifies an estimated 58% of fetuses with DS, but it has an estimated rate of true-positive results of 0.1% and of false-positive results of 3.7% (given a risk cut-off of one chance in 190 of DS). These rates vary with maternal age and the risk cut-off chosen. Women with a known risk of having a fetus with DS (e.g., those who have had a previous child with DS) may benefit from a reduction in anxiety after confirmation that their fetus does not have DS. Screening allows women at low risk of having a child with DS to detect fetuses with the syndrome, but may cause psychologic distress if there is a false-positive screening test result. Up to 20% of women with positive results of screening tests may decline to undergo a subsequent amniocentesis. Amniocentesis and CVS are very accurate in diagnosing DS in fetuses and have a very low rate of serious complications for the mother. Amniocentesis is associated with a 1.7% rate of fetal loss when it is performed after 16 weeks' gestation, whereas the rate among controls is 0.7% (for a difference of 1%, 95% confidence interval 0.3% to 1.5%). CVS entails a greater risk of fetal loss than amniocentesis (odds ratio 1.32, 95% confidence interval 1.11 to 1.57). There is little evidence from controlled trials of significant associations between amniocentesis or CVS and neonatal morbidity or malformations; however, samples have been too small to show differences in rare outcomes. Results from some case-control studies suggest that CVS increases the risk of transverse limb deficiency. Costs were not considered because they are beyond the scope of this review. RECOMMENDATIONS: There is fair evidence to offer triple-marker screening through a comprehensive program to pregnant women under 35 years of age (grade B recommendation). Women given detailed information about serum-marker screening show more satisfaction with the screening than those not given this information. There is fair evidence to offer amniocentesis or CVS to pregnant women 35 years of age and older and to women with a history of a fetus with DS or of a chromosome 21 anomaly (grade B recommendation). Information on the limitations and advantages of each procedure should be offered. Triple-marker screening may be offered as an alternative to CVS or amniocentesis to pregnant women over 35. VALIDATION: Recommendations concerning prenatal diagnosis are similar to those of the US Preventive Services Task Force, the Society of Obstetricians and Gynaecologists of Canada, the Canadian College of Medical Geneticists and the Cochrane Pregnancy and Childbirth Group. No previous specific recommendations concerning triple-maker screening exist. SPONSORS: These guidelines were developed and endorsed by the Canadian Task Force on the Periodic Health Examination, which is funded by Health Canada and the National Health Research and Development Program.     

胎儿颈项透明层在产前超声中的研究进展

近年来,产前超声在降低围生儿出生缺陷率上起着重要作用。在早孕期如果超声发现胎儿结构异常,如颈项透明层增厚等,尤其经介入性检查证实胎儿有染色体异常,孕妇即可进行流产终止妊娠,从而避免妊娠中晚期引产对产妇造成更大的创伤,因此在孕11～13+6周进行胎儿超声检查发现胎儿异常的意义重大。为了明确超声测定胎儿颈项透明层厚度在产前诊断中的意义,现就国内外文献对胎儿颈项透明层与产前超声的关系进行综述。     

Advances on circulating fetal DNA in maternal plasma

The discovery of cell-free fetal DNA in maternal plasma in 1997 has opened up new possibilities for noninvasive diagnosis. By RT-PCR, circulating fetal DNA can be detected in the plasma of pregnant women, even in the first trimester of pregnancy, and thus can be used for noninvasive prenatal diagnosis of sex-linked disorders, the RhD status of fetuses, and single gene disorders such as beta-thalassaemia, congenital adrenal hyperplasia, and achondroplasia. In addition, quantitative aberrations of circulating fetal DNA may indicate various pregnancy-associated disorders, including preeclampsia, preterm labor and fetal trisomy 21.[第一段]     

采用盲吸法对孕早期绒毛组织制备染色体的研究

绒毛滋养叶细胞有较高的自发分裂趋势,而且与胎儿的遗传基础是一致的。本文通过盲吸法取得孕早期绒毛组织直接制备染色体,供产前诊断分析。实践证明,本方法稳定可靠、简便易行。通过一系列实验,获得了良好的显带技术。在短期培养的绒毛标本中还建立了染色体高分辨显带方法。     

Prenatal diagnosis of von Willebrand disease in a family

We report the successful prenatal diagnosis of von Willebrand disease (VWD) in a family with type 3 severe VWD by the indirect method of gene tracking using polymorphic markers of intron 40 of the von Willebrand factor (VWF) gene. The couple had a daughter diagnosed to have type 3 VWD. Chorionic villus sampling (CVS) was done in the eleventh week of gestation of a subsequent pregnancy. The 3 VNTR polymorphic markers VWF1, VWF2 and VWF3 of intron 40 of the VWF gene were used for linkage studies. DNA in the affected VWD patient, the father and mother as well as in the CVS using VWF1 and VWF3 polymorphic markers revealed that the foetus was affected. The family chose to abort the foetus. In a subsequent pregnancy, similar investigation revealed a normal foetus. Prenatal diagnosis in families with a diagnosed case of VWD can be used to determine the status of the foetus. The technique is inexpensive.     

338例孕中期羊水细胞染色体核型结果分析

目的分析孕中期行产前诊断孕妇羊水细胞染色体核型,探讨羊水染色体检查对诊断胎儿染色体病的临床意义。方法对338例孕中期具有产前诊断指征的孕妇行羊膜腔穿刺术抽羊水进行细胞培养、G显带技术及染色体核型分析。结果羊水细胞培养成功率为100%。检出正常变异染色体36例(10.65%);检出异常核型13例(3.85%),其中数目异常9例,占异常核型的69.23%;结构异常4例,在异常核型中占30.77%。结论对具有产前诊断指征的孕妇进行羊水细胞染色体核型分析,能安全、有效地对胎儿染色体疾病进行产前诊断。     

母血清生化二联、三联标记物筛查胎儿唐氏综合征

目的 用母血清生化标记物筛查胎儿唐氏综合征(Down’s syndrome,DS)等先天异常。方法 应用孕妇血清指标和时间分辨荧光免疫分析法对本院1996年11月-2001年3月在本科产前检查的2886例孕妇进行DS胎儿筛查。对高危孕妇作羊腹腔穿刺或早孕绒毛取材以得到胎儿染色体。对应用的指标捡出率及假阳性率进行分析。结果 共捡出11例DS,8例无脑儿;DS检出率3．8‰。结论 妊娠相关血浆蛋白A(PAPP-A)筛查胎儿DS有很好的价值并能使产前诊断时期提前,甲胎蛋白 游离人绒毛膜促性腺激素(AFP freeβ-HCG)可用于检测DS和胎儿异常。     

产前超声诊断中晚期孕妇胎儿血管前置的价值探析

目的探析产前超声诊断中晚期孕妇胎儿血管前置的价值。方法回顾性分析我院妇产科22例产前疑诊胎儿血管前置孕妇中晚期超声检查与手术病理临床资料,以手术病理结果作为金标准,评价产前超声检查对中晚期孕妇胎儿血管前置的诊断效能。结果手术病理结果显示,22例疑诊孕妇中16例为胎儿血管前置,经产前超声诊断检出例,孕中晚期超声诊断胎儿血管前置的灵敏度为87.5%(14/16),特异度为66.67%(4/6),准确率为81.81%(18/22),阳性预测值为87.5%(14/16),阴性预测值为66.67%(4/6)。结论于孕中晚期进行产前超声可有效对胎儿血管前置进行提前诊断。     

母体血浆中白细胞介素11 DNA甲基化和蛋白水平的检测及其临床意义

目的:检测孕妇血浆中甲基化白细胞介素11DNA(M-IL-11)和非甲基化IL-11DNA(U-IL-11)的表达水平及IL-11蛋白的含量,探讨其在临床中的应用价值。方法:选择早、中、晚期妊娠孕妇各60例,以非妊娠期妇女60例为阴性对照组。提取血浆中的游离DNA,用甲基化特异性PCR(MSP)方法检测各组血浆标本中M-IL-11和U-IL-11的表达水平,并采用ELISA的方法检测IL-11的水平,对妊娠组和对照组样本均数进行统计学分析。结果:非妊娠妇女血浆中未检测到U-IL-11,妊娠早期、中期、晚期及非妊娠妇女M-IL-11DNA浓度无显著性差异(P>0.05),而中期、晚期妊娠妇女U-IL-11的水平明显高于早期妊娠妇女(P<0.05)。IL-11水平在孕妇组显著升高,且随着孕周时间延长,其含量不断升高。结论:M-IL-11不是妊娠特异性标志物,U-IL-11可作为妊娠特异性标志物,IL-11的检测有助于扩大非创伤性产前诊断的临床应用范围。     

Neu-Laxova syndrome: a prenatal diagnosis

Neu-Laxova syndrome is a rare autosomal recessive congenital disorder. Prenatal diagnosis is possible via second trimester ultrasonography. Characteristic ultrasound findings include hydramnios, severe intrauterine growth restriction, craniofacial and CNS anomalies, limb contractures, skin lymphedema, skin restrictions, and akinesia. Fewer than 70 cases have been reported, and no survival beyond six months of age is known with most neonatal deaths occurring within the first few days of life. Overall, this is a lethal condition after birth secondary to severe lung hypoplasia and brain anomalies. Herein we report a recent case from our institution with prenatal diagnosis.     

神经外科中脑血管痉挛的现代诊治

脑血管痉挛(CVS)是蛛网膜下腔出血致死和致残的主要原因。尽管对CVS进行了广泛的研究,但其发病机制仍未完全阐明。红细胞分解产物、血管内皮功能障碍以及血管损伤在其中起关键作用。脑血管造影仍然是诊断CVS的金标准,但经颅多普勒、MRI和CT等无创性手段在SAH和CVS诊断中的地位越来越重要。目前无明确有效的治疗方法,但随着基础研究的深入,其治疗也取得一些进展。本文对CVS的现代诊治进行综述。     

New trends in prenatal screening for chromosomal abnormalities

In the recent years, the scope of prenatal genetic diagnosis has expanded greatly with the development of a number of new methods, such as maternal serum screening and ultrasound screening for detection of fetal abnormalities. These methods have the advantage of providing earlier diagnosis in addition to being non-invasive and of less psychological traumas. Pre-implantation genetic diagnosis is another new growing field offering the genetic diagnosis prior to implantation. The most promising of all is the first trimester biochemical screening in conjunction with ultrasound nuchal translucency screening.     

中国大陆产前诊断的现状和前景

1The history and main problems in prenatal diagnosis and clinical diagnosis of inherited diseasesPrenatal diagnosis is to diagnose the fetal congenital defects and inherited diseases.In the earlier1970s,thegroup of prenatal diagnosis in Peking Union Hospi…     

羊水染色体核型分析降低出生缺陷的研究

目的 探讨羊水染色体异常核型类型、分布及不同产前诊断指征的异常核型检出情况.方法 选取在保定市妇保健院具有产前诊断指征的孕妇1 305例,进行羊膜腔穿刺术及羊水染色体核型分析.结果 1 305例羊水标本共检出异常核型92例,检出率为7.05％,包括数目异常68例(73.91％)和结构异常24例(26.09％);异常核型...     

胎儿染色体病的超声筛查分析

目的探求超声在孕中期筛查胎儿染色体病的临床效果和可靠性。方法对2008年1月～2010年12月于宁夏医科大学附属医院接受产前筛查的孕18～24周的孕妇应用超声指标进行孕中期筛查,发现胎儿结构畸形则建议其行产前诊断,对发现2项以上软指标异常的孕妇也建议进行产前诊断。结果接受筛查的11065例孕妇中,异常206例,检出率为1．86％,其中187例接受产前诊断,发现染色体病者16例,继续妊娠至分娩者染色体异常1例,共17例,异常率为9.09％。结论超声检查可有效提高胎儿染色体异常的检出率,减少染色体病胎儿出生,避免不必要的侵入性检查。     

孕中期AFP,UE_3,β-HCG联合筛查唐氏综合征临床分析

[背景]探讨孕中期唐氏综合征产前筛查的方法及影响其风险值的主要因素.[病例报告]采用全自动化学发光免疫分析仪检测950例孕14～20周孕妇血清甲胎蛋白(AFP)、游离雌三醇(UE3)及人绒毛膜促性腺激素β-亚单位(β-HCG)值,应用美国贝可蔓公司提供的软件对AFP,UE3,β-HCG值进行风险分析,以风险比1∶380为切割点,判断950例孕中期胎儿的风险情况.风险比高于1∶380以上者为10例,其中5例进行了羊水穿刺,经染色体核型分析确诊1例,待分娩后确诊其余胎儿均为阴性,在高危孕妇中阳性率为10.0%.[讨论]上述3个指标联合筛查为较理想的产前唐氏综合征筛查模式.