B超引导下经腹腔绒毛取材进行染色体培养的研究

目的研究早孕期B超引导下经腹绒毛取材以及绒毛细胞长期培养和染色体制备方法,评价早孕期细胞遗传学分析在产前诊断中的应用价值。方法采用绒毛细胞长期培养法对312例B超引导下经腹绒毛取材的产前诊断病例进行染色体培养制作、核型分析。结果建立一种快速简便的孕早期绒毛细胞长期培养和染色体制备方法,在312例孕早期绒毛膜细胞中,除12例因培养失败外,其余均获得成功,成功率达96.15%。结论孕9周后行B超引导下经腹绒毛取材是一项安全可行的早孕期介入性产前诊断方法。     

绒毛细胞长期培养法在产前诊断及早孕和早中孕期自然流产病因检测中的应用

目的探讨绒毛细胞长期培养法在产前诊断及早孕和早中孕期自然流产病因检测中的应用价值及两者有无差异。方法采用绒毛细胞长期培养法分别对147例B超引导下经腹绒毛取材的产前诊断病例及384例自然流产患者的流产绒毛进行染色体培养制作、核型分析以及结果对照比较。结果产前诊断绒毛培养成功率为96.60%,明显高于自然流产绒毛的培养成功率（87.24%）;两者的平均培养天数无明显差异（11.5天vs12.3天）;流产绒毛染色体异常率（63.88%）明显高于产前诊断绒毛（9.15%）。结论绒毛细胞长期培养法是一种有效的检测绒毛染色体的方法 ,同时适用于产前诊断绒毛和流产绒毛;绒毛标本的无菌性、新鲜程度对绒毛细胞培养成功率有着重要影响。     

妊娠早期胎儿染色体产前诊断的临床分析

目的 通过绒毛活检细胞遗传学产前诊断的临床分析,评价早孕期染色体产前诊断的意义.方法 对53例有产前诊断指征的孕妇,于妊娠11～13周在超声引导下经腹绒毛活检(transabdominalchorionic villi sampling,TA-CVS)获取绒毛组织行遗传学产前诊断.结果 绒毛活检成功率为100%,细胞培养成功率为96.2%.53例中检出异常核型14例,其中数目异常9例(21三体3例、18三体2例、45,X2例、13三体1例、14三体1例),结构异常5例.结论 妊娠早期经腹绒毛活检产前诊断安全可行,可及早发现和干预染色体异常胎儿,值得在临床上推广应用.     

早孕期绒毛活检技术在产前诊断中的应用

目的探讨B超引导下经腹绒毛取材在孕早期产前诊断中的应用价值。方法孕早期(11～13~(+6)w)B超引导下经腹绒毛取材60例,其中25例绒毛组织进行细胞培养并制备染色体,G显带分析核型,同时进行荧光原位杂交(FISH)快速分子诊断。35例绒毛组织进行地中海贫血基因诊断。结果 60例高危孕妇取材时间为11～13~(+6)w,穿刺成功率100%,诊断2例21三体综合症,1例18三体综合症,1例Turner综合症,5例重型α-地中海贫血,4例重型β-地中海贫血及16例轻型地中海贫血。结论孕11～13~(+6)w行B超引导经腹绒毛取材是一项安全可行的早孕期产前诊断方法,对重型地中海贫血及常见的染色体病可做到早发现,早诊断,早干预,减少中晚期引产的并发症,可降低出生缺陷率。     

超声引导下早孕期绒毛取材术的探讨

目的探讨超声在早孕期经腹徒手绒毛取材中的引导价值及注意事项。方法对87例早孕期的孕妇行超声引导下经腹绒毛取材（TA—CVS）,着重在术前观察胎盘附着的位置,尽量选择绒毛分布范围较宽处同时也是和进针方向平行时作为穿刺点。术中实时引导穿刺针路径并抽吸绒毛,术后观察胎心搏动及胎盘部位有无血肿等情况。结果 87例行TA—CVS的孕妇平均取材孕周为12.26周,穿刺成功率97.65%,穿刺相关并发症无,发现异常核型4例。结论在超声引导下经腹徒手CVS,可实时观察取材路径并避开羊膜腔、肠管、周围大血管等重要脏器,穿刺成功率高,不失为一项安全可行的进行早孕期产前诊断的有效方法。     

早孕期绒毛活检在产前诊断中的应用价值探讨

目的探讨早孕期经腹绒毛活检在产前诊断中的应用价值及其安全性。方法 150例孕63-98天的孕妇经腹抽取绒毛组织,剪碎后部分原位培养进行染色体核型分析;部分直接低渗制片进行荧光原位杂交（FISH）分析。结果150例患者中,培养及核型分析成功148例,成功率98.7%。FISH分析成功149例,成功率99.3%。共发现异常核型20例,包括染色体结构异常2例,常染色体三体6例,性染色体异常6例,染色体多态性5例,嵌合体1例。FISH与核型分析结果完全一致。除1例患者术后当天有少量阴道出血外,未发现明显的并发症。结论早孕期经腹绒毛活检是一种安全可靠的产前诊断技术,对常见的染色体病和遗传病可做到早发现、早处理,减少中晚期引产的痛苦,避免缺陷儿的出生。     

451例孕早期绒毛染色体结果分析

目的评价绒毛细胞染色体核型分析在孕早期产前诊断中的应用价值。方法对有产前诊断指征的孕妇在B超引导下经腹绒毛穿刺取绒毛组织行细胞培养、染色体制备及核型分析。结果成功培养绒毛细胞451例,培养成功率为97.41%,共发现胎儿染色体核型异常136例,异常检出率为30.16%。136例异常核型中染色体数目异常79例（58.09%）,其中包括常染色体三体型55例,性染色体数目异常23例,三倍体1例。检出染色体结构异常11例,嵌合体16例,染色体多态性30例。超声筛查胎儿异常及夫妇染色体结构异常携带这两个指征检出胎儿染色体异常率最高。结论孕早期绒毛细胞染色体检查结合孕早期超声筛查及血清学筛查能及早发现胎儿染色体异常并早期干预,对于减少染色体畸形儿的出生具有重要的意义。     

116例绒毛细胞培养法制备染色体与核型分析

目的探讨培养法制备绒毛染色体在产前诊断与分析自然流产病因中的价值。方法对21例经腹穿刺绒毛标本与95例自然流产绒毛标本以培养法制备染色体核型并分析。结果腹穿绒毛培养成功率95.2%,检出5例异常;自然流产绒毛培养成功率92.6%,异常核型检出率48.9%,以常染色体三体与X单体多见。结论绒毛细胞培养法技术稳定、结果可靠,可用于胎儿染色体病的产前诊断与自然流产病因分析。     

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。     

绒毛细胞染色体直接制片法和培养法的比较

目的比较绒毛细胞染色体直接制片法和培养法的优缺点,提高产前诊断和流产绒毛细胞染色体核型分析效率。方法分别进行绒毛组织细胞培养和直接制片,通过G显带分析核型。结果培养法的成功率要远高于直接制片法,但步骤较复杂。结论在流产或早期产前诊断中,培养法的成功率和准确率要比直接法高,是一种实用的早期产前诊断和流产绒毛细胞染色体核型分析方法。     

The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities

Chorionic villus sampling is a method of prenatal diagnosis in the first trimester of pregnancy in which tissue for genetic study is aspirated from the developing placenta by means of a catheter inserted transcervically under the guidance of ultrasonography. In this seven-center study, we compared the safety and efficacy of chorionic villus sampling in 2278 women with those of amniocentesis at 16 weeks' gestation in 671 women. Both groups were made up primarily of well-educated private patients; they were recruited in the first trimester of pregnancy and had viable pregnancies verified by ultrasound examination. Cytogenetic diagnoses resulted from 97.8 percent of the chorionic villus sampling procedures and 99.4 percent of the amniocenteses (P less than 0.05); aneuploidy was found in 1.8 and 1.4 percent, respectively, of the cases in which diagnoses were made. Of the women who underwent chorionic villus sampling, 17 (0.8 percent) subsequently had an amniocentesis because the diagnosis was ambiguous. Two of the diagnoses of aneuploidy (one tetraploidy, one trisomy 22) were later proved to be incorrect. On the basis of pediatric examination of the infants subsequently born to the women in the sample, there were no errors in the determination of sex or the identification of the major trisomies (21, 18, and 13). The rate of combined losses due to spontaneous and missed abortions, termination of abnormal pregnancies, stillbirths, and neonatal deaths was 7.2 percent in the group that underwent chorionic villus sampling and 5.7 percent in the group that had amniocentesis. After adjustment for slight differences in gestational and maternal age, the total loss rate for the women in the chorionic villus sampling group exceeded that for the amniocentesis group by only 0.8 percentage points (80 percent confidence interval, -0.6 to 2.2). The rate of loss of chromosomally normal fetuses after chorionic villus sampling was 10.8 percent among women in whom three or four attempts were made to place the transcervical catheter, as compared with 2.9 percent in those in whom only one attempt was necessary (P less than 0.01). There were no serious maternal infections among the women in this study or among an additional 1990 women who underwent chorionic villus sampling (upper 95 percent confidence limit, 0.08 percent). We conclude that chorionic villus sampling is a safe and effective technique for the early prenatal diagnosis of cytogenetic abnormalities, but that it probably entails a slightly higher risk of procedure failure and of fetal loss than does amniocentesis.     

孕早期宫颈分泌物中获取胎儿细胞DNA进行产前诊断的可行性

目的：探索获取胎儿细胞DNA用于产前基因诊断的可行性，及能否用于预期胎儿性别。方法：收集92例孕早期人工流产妇女宫颈分泌物和绒毛组织，提取宫颈分泌物中DNA，扩增Y染色体特异重复序列DNA。短期培养制备绒毛染色体，分析核型确定流产胎儿性别。结果：92例经绒毛染色体核型分析的人工流产胎儿中，正确预期胎儿性别72例，准确率78％。结论：采集孕早期宫颈分泌物，可获得胎儿滋养层细胞DNA用于产前诊断，其准确性和可靠性有待进一步提高。     

二次传代法在产前诊断绒毛核型分析中的应用

目的探讨二次传代法在产前诊断绒毛核型分析中的应用价值。方法 210例有产前诊断指征的孕妇在孕11～14w时B超引导下经腹穿刺抽取少量绒毛组织做核型分析。分别采用了一瓶培养法、两瓶培养法和二次传代法三种长期培养法培养绒毛组织,并对其培养时间和培养成功率进行了比较。结果二次传代法平均培养时间为11.1天,比一瓶培养法延长了1.1天,比两瓶培养法缩短了3.5天;二次传代法培养成功率为98.18%,明显高于一瓶培养法(84.0%),略高于两瓶培养法(96.0%)。结论在产前诊断绒毛培养中,二次传代法需要的绒毛标本量少,同时解决了一瓶培养法分裂相少和两瓶培养法培养时间过长的问题,是一种实用的早期产前诊断绒毛核型分析方法。     

Parental decisions to terminate/continue following abnormal cytogenetic prenatal diagnosis: “What” is still more important than “when”

This study was undertaken to determine if parental decisions to continue or terminate following the diagnosis of a cytogenetic abnormality have changed over the past 8 years at the same center. Parental decisions in 310 prenatal chromosomal abnormalities were stratified by procedure (chorionic villus sampling [CVS] vs. amniocentesis) and the severity of the anomaly (severe vs mild-moderate). Patients with severe anomalies were much more likely to terminate regardless of gestational age. There was a trend (P = .107) toward a lower rate of termination for mild-moderate degrees in the second trimester. There was no change in patient's decisions over time. Patients' decisions about termination are focused on the severity of the disorder and only marginally influenced by when in gestation the decision is made. © 1996 Wiley-Liss, Inc.     

Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.

We report a case of Miller-Dieker syndrome (MDS) owing to an unbalanced rearrangement of a familial pericentric inversion of chromosome 17 (inv(17) (p13.3q25.1)). In addition to lissencephaly and the facial features of MDS, the affected child had other congenital malformations consistent with distal 17q duplication. Initial cytogenetic analysis failed to show any abnormality and fluorescence in situ hybridisation (FISH) studies confirmed the 17p deletion in the proband and identified the chromosome 17 inversion in his mother. FISH studies were performed in other relatives and enabled first trimester prenatal diagnosis by chorionic villus sampling in a subsequent pregnancy of the proband's mother. These findings underline the value of FISH in the investigation of MDS families.     

Current assessment of fetal losses as a direct consequence of chorionic villus sampling

Chorionic villus sampling has been developed as a method of first trimester prenatal diagnosis. In order to evaluate this new approach, accurate risk figures for the procedure must be obtained. This has been difficult for a number of reasons, including establishment of baseline fetal loss rates in the first trimester, procedural "learning curves," and reporting biases. This review will discuss these problems and use data from the chorionic villus sampling program at the University of California, San Francisco, to illustrate difficulties in data interpretation.