8250例高龄孕妇的产前细胞遗传学诊断

目的通过高龄孕妇羊水染色体的核型结果分析,探讨高龄孕妇妊娠异常染色体胎儿的风险。方法对8250例年龄≥35周岁孕妇于孕中期在超声介导下行羊水穿刺术,对羊水进行常规细胞培养和染色体G显带核型分析。结果 8250例羊水中,培养成功8246例,成功率99.9%,共检出染色体异常241例,其中染色体数目异常160例,染色体增加10例,染色体易位32例,染色体倒位9例,衍生染色体15例,嵌合体15例。结论对高龄孕妇进行羊水染色体核型分析能有效的诊断胎儿染色体病,从而有效降低异常胎儿出生率,提高我国人口素质。     

1879例产前诊断胎儿染色体核型的分析

目的探讨具备产前诊断指征的孕妇行羊膜腔穿刺术胎儿染色体异常的临床应用价值。方法对符合产前诊断指征的中期妊娠孕妇进行知情同意羊水或脐血穿刺,孕妇经腹抽取适量羊水或脐血,细胞培养,染色体核型分析。结果 1879例羊水和脐血染色体核型分析标本中发现异常核型89例,总体异常核型检出率4.7%(89/1879),其中结构异常64.0%(57/89);数目异常36.0%(32/89)。唐氏筛查高风险而进入产前诊断的孕妇中染色体异常检出率为5.6%(46/816),高龄孕妇胎儿异常染色体检出率为2.9%(15/513),超声提示胎儿异常伴有染色体异常胎儿检出率9.6%(18/189)。结论对具有产前诊断指征的孕妇进行羊水细胞培养及染色体核型分析,不仅能及时发现胎儿染色体异常,为孕妇是否继续妊娠提供科学依据,而且有利于降低出生缺陷发生率;而超声示胎儿结构异常、孕妇血清学筛、父母平衡易位携带及高龄更有预测价值。     

济宁地区1608例孕中期羊水细胞染色体核型分析

目的通过对具有产前诊断指征的孕中期孕妇羊水细胞遗传学分析,确诊异常染色体胎儿,减少出生缺陷。方法对孕18～23W孕妇进行羊膜腔穿刺、羊水细胞培养并进行染色体核型分析。结果在1608例羊水细胞核型分析中,共检测出异常核型105例,异常核型检出率(不包括多态性)4.91%,终止妊娠48例。结论孕中期对有产前诊断指征的孕妇进行羊水细胞核型分析,可有效减少异常胎儿的出生,提高人口素质。     

6389例孕中期高危孕妇胎儿染色体核型产前诊断结果分析

目的通过对6389例孕中期不同产前诊断指征高危孕妇的胎儿羊水染色体核型分析,探讨胎儿染色体异常核型的类型及发生频率,为有效开展产前诊断提供基础数据。方法经腹羊膜腔穿刺抽取6389例高危孕妇羊水20ml,进行细胞培养,制备染色体标本,分析胎儿染色体核型。结果 6389例孕妇中,羊水细胞培养成功6348例,成功率为99.36%。检出异常染色体核型243例,异常检出率为3.80%。不同产前诊断指征分组中的异常检出率不同,以高龄孕妇组异常率最高,为4.47%。结论羊水细胞染色体核型分析是产前诊断的重要手段,高龄孕妇、母血清筛查高风险及超声显示的胎儿异常是产前诊断的重要指征。综合应用多种筛查及诊断方法,对于预防和控制出生缺陷意义重大。     

羊水细胞染色体核型分析在产前诊断中的临床价值

目的对高危孕妇孕中期穿刺羊水进行染色体核型分析。方法在无菌条件、B超引导下,对324例孕妇行羊膜腔穿刺术,抽取羊水20 ml,进行羊水细胞培养、制片及G显带进行染色体分析。结果 324例羊水成功培养319例,成功率为98.45%;检出异常核型18例,占5.64%,其中数目异常10例,结构异常8例。结论孕中期羊水细胞染色体核型分析对高危孕妇进行产前诊断具有非常重要的临床价值,可有效减少出生缺陷患儿的出生。     

孕中期羊水细胞染色体核型分析在产前诊断中的应用

目的利用孕中期羊水细胞染色体核型分析进行产前诊断。方法对孕16-27w孕妇进行羊膜腔穿刺抽取羊水，做羊水细胞培养，制备染色体并分析染色体核型。结果255例孕妇，羊水培养成功247例，成功率为96．9％。可行染色体核型分析的247例中共发现13例染色体异常，占5．3％，其中常染色体数目异常3例，性染色体数目异常2例，嵌合体3例。平衡易位3例。其他结构异常2例。结论孕中期羊水细胞培养，染色体核型分析是产前诊断胎儿染色体疾病的一种安全、有效、可靠的方法。     

8446位高危孕妇孕中期羊水细胞染色体结果分析

目的分析高危孕妇孕中期羊水细胞胎儿染色体结果。方法2009年1月至2013年7月宁波地区8446位有产前诊断指征的孕妇抽取羊水进行细胞遗传学分析。结果8446例羊水细胞共检出胎儿异常染色体核型187例,检出率为2.21％。其中染色体数目异常为137例,结构异常38例,嵌合体12例。结论对高危孕妇开展产前诊断可以有效降低出生缺陷率。     

沈阳地区1835例孕中期孕妇羊水细胞染色体异常产前诊断分析

目的分析沈阳地区1835例妊娠中期孕妇羊水细胞染色体核型,探讨羊膜腔穿刺术的指征以及羊膜腔穿刺术对胎儿染色体的诊断意义。方法沈阳地区1835例有产前诊断指征的孕妇,在超声引导下行羊膜腔穿刺术,抽取羊水20ml进行羊水细胞培养及染色体核型分析。结果发现异常核型148例,异常核型检出率为8.07%。其中数目异常31例,结构异常117例。结论羊水细胞培养及染色体核型分析可以在妊娠中期对胎儿染色体结构和数目异常作出产前诊断,是目前安全、有效、最可靠的进行胎儿染色体病产前诊断的方法。     

桂林地区526例遗传咨询者羊水细胞染色体核型分析

目的探讨羊水细胞培养及染色体核型分析在唐氏综合征等染色体病干预中的价值。方法对526例孕妇行羊膜腔穿刺术,羊水细胞培养、染色体制备及核型分析。结果羊水细胞培养成功率为99.43%,检出异常核型31例,其中21-三体6例,包括嵌合型1例,13-三体1例,性染色体数目异常3例,嵌合体4例,染色体结构异常14例,多态性变异4例。结论采用羊水细胞进行染色体核型分析对唐氏综合征等染色体异常进行产前诊断,是控制和减少出生缺陷的发生地有效措施。     

山西地区1691例羊膜腔穿刺产前诊断临床研究

目的回顾性的研究山西地区1691例孕中期羊水细胞培养及染色体核型分析资料,以探讨羊膜腔穿刺产前诊断之胎儿染色体异常核型的类型、比例及其与产前诊断指征之间的关系,并对羊膜腔穿刺术的安全性进行评估。方法有产前诊断指征的1691例孕妇在超声波引导下行羊膜腔穿刺术,抽取羊水进行细胞培养及染色体核型分析。结果羊水细胞培养成功率为99.7%(1686/1691),发现异常核型64例,异常检出率为3.8%(64/1686)。其中夫妇一方染色体异常携带组异常核型检出率居第一位,达到48.4%;超声提示胎儿异常组异常染色体检出率为11.1%;不良妊产史组异常染色体检出率为1.8%;血清学筛查高危组与孕妇高龄组的异常染色体检出率相近。64例异常核型中数目异常44例,其中21-三体最多共24例,占染色体异常核型的37.5%;18-三体7例;13-三体2例,22-三体1例;性染色体异常9例;1例21-三体合并性染色体异常。结构异常20例,其中罗氏易位10例,平衡易位7例,倒位3例。结论羊水染色体分析能为临床诊断胎儿染色体异常提供可靠依据,除对血清学筛查高危及高龄孕妇应进行羊水染色体分析外,更要重视对超声提示胎儿异常及夫妇一方染色体异常者进行产前诊断,以减少染色体异常胎儿的出生。     

广州地区580例智力低下患儿的染色体核型分析

目的回顾性分析我院遗传咨询门诊580例0-4岁怀疑存在遗传缺陷的患儿的染色体核型分析结果。方法用常规的G显带技术分析患者外周血染色体核型。结果580例患儿中染色体异常者255（38.7%）例,其中唐氏综合征195例;绝大部分（88.4%）染色体异常为数目异常,少数为结构异常。结论对于临床怀疑为遗传综合征的患儿应常规做染色体检查。     

评价羊水染色体检测在产前诊断中的作用

目的评价羊水细胞染色体检测在产前诊断中的作用。方法对妊娠16∽24w的孕妇939例进行羊膜腔穿刺术,对羊水细胞染色体分析。结果检测出染色体异常共54例,其中21-三体13例,18-三体1例,13-三体1例,性染色体异常9例,平衡易位14例,其他染色体结构异常16例。结论羊水染色体检测可安全、有效的检测胎儿染色体异常,具有重要意义,值得进一步推广。     

染色体异常与疾病之间关系的临床分析

目的研究染色体异常与临床疾病发生之间的关系。方法采用人外周血淋巴细胞培养，常规G显带技术进行核型分析。结果298例检查者中，染色体异常59例，染色体检出率18．8％。染色体异常疾病主要发生于有不良妊娠史、男性少弱精症、男女性发育异常及智力低下。在59例染色体异常中，数目异常占20．34％，嵌舍体占5．08％，结构异常占20．34％，染色体多态性占49．15％。有3例社会性别为女性，染色体核型为男性。结论染色体异常会导致临床疾病的发生，遗传咨询和产前诊断对染色体异常疾病有预防作用。     

Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages

BACKGROUND: Aneuploidies involve approximately 80% of chromosomal anomalies found in spontaneous miscarriages. Since cytogenetic studies show high rates of failure, we have incorporated the quantitative fluorescent polymerase chain reaction (QF-PCR) technique to the study of numerical chromosome anomalies in miscarriages. METHODS: Multiplex and simple QF-PCR assays have been performed on 160 miscarriage and 34 parental DNA samples analysing specific short tandem repeat (STR) markers for chromosomes 2, 7, 13, 15, 16, 18, 21, 22 and X. Cases successfully karyotyped were used as controls in our study. RESULTS: While maternal contamination could be detected in such cases, a molecular result was obtained for 94% of miscarriages without a cytogenetic one. Thirty-six per cent of them were diagnosed with numerical chromosome anomalies. Parental origin of the extra chromosome and the error stage of meiosis could be also determined. CONCLUSIONS: QF-PCR represents a useful and reliable tool to diagnose aneuploidies in spontaneous miscarriages. It provides information about parental and meiotic origin of anomaly, allowing an appropriate genetic counselling.     

产前诊断266例胎儿脐带血染色体检测结果分析

目的探讨脐带血染色体分析在产前诊断中的应用和临床意义。方法对符合产前诊断指征的266例孕妇在妊娠16-38周行脐血穿刺术,抽取脐血1-2ml进行细胞培养,G显带分析胎儿染色体核型。结果 266例脐带血中培养成功261例,成功率达98.12%。在培养成功的脐血中,发现染色体异常20例（7.66%）,以三体型最多见,共16例,占染色体异常的80.0%;染色体多态性14例（5.36%）,以Y染色体异染色区增长最常见,共9例,占多态性的64.29%。结论通过脐血细胞培养染色体核型分析,可以实现胎儿染色体病的产前诊断,减少染色体异常患儿出生,对减轻家庭和社会的经济负担以及提高出生人口素质具有重要意义。     

嘉兴地区2436例遗传咨询者外周血淋巴细胞染色体分析

目的研究染色体异常与临床疾病发生之间的关系。方法采用人外周血淋巴细胞培养,常规G显带技术进行核型分析。结果2436例检查者中,染色体异常167例,异常检出率为6.86%。染色体异常疾病主要发生于有不良孕产史、不孕不育、性分化异常、原发闭经及智力低下。结论染色体异常会导致临床疾病的发生,遗传咨询和产前诊断在临床治疗及指导优生中具有重要意义。     

Study of primary amenorrhoea with special reference to cytogenetic evaluation

An attempt has been made to find out the proportion of genetic causes in cases of primary amenorrhoea and to analyse different chromosomal pattern. Cases were analysed according to clinical profile, X-ray, laparoscopy/pneumography, hormone profile, USG, Gonadal Biopsy and Cytogenetic study including Sex Chromatin (Barr body) and Karyotyping. Among the 72 cases studied, the aetiological factors were Mullerian duct abnormalities in 27 cases (37.5%) Gonadal agenesis in 13 cases (18.05%). Turner stigmata in 18 cases (25%), Y cell line in 6 cases (8.33%). Delayed menarche in 4 cases (5.55%), systemic disease like Tuberculosis and Idiopathic 2 cases (2.77%) each. Chromosomal aberration was seen in 24 cases (33.33%) and it comes second most common cause of primary amenorrhoea after mullerian duct abnormalities.     

Segregation analysis of a translocation (16;21)(p11;q22) in a large pedigree

A large family with an inherited reciprocal translocation (16;21) is described. An unbalanced karyotype due to adjacent-1 segregation was documented in 6 cases, whereas 25 children dying within the first year of life and 4 individuals dying at later ages probably had the same abnormality. Therefore minimal and maximal risk estimates were calculated to be 6.0% and 26.5% for female, respectively, 4.8% and 33.3% for male translocation heterozygotes. Among the karyotyped phenotypically normal offspring of male as well as female carriers the ratio of normal children to balanced carriers was not different from 1:1.     

Chromosomal abnormalities in a clinic sample of individuals with autistic disorder

We examined data from the largest reported sample of autistic individuals who have been karyotyped with the aim of providing additional information in the search for autism disease genes. Individuals seen in the University of Iowa's Child and Adolescent Psychiatry Clinic since 1980 who had been diagnosed with autism were cross-referenced with the University of Iowa's Cytogenetics Laboratory database. We determined the number of individuals referred for cytogenetic testing and, of these, the number found to have gross cytological abnormalities. Medical records were reviewed for all cases with such abnormalities. Between 1980 and 1998, 898 subjects seen in the clinic were diagnosed with autism. Of these, 278 (30.1%) were referred for cytological studies; 25 (9.0%) of these were found to have chromosomal abnormalities. The most common chromosomal abnormalities were Fragile X, other sex chromosome anomalies, and chromosome 15 abnormalities. These data support the contribution of chromosomal abnormalities to a small but significant number of cases of autism, and highlight the involvement of chromosome 15 and the sex chromosomes.