复发性流产夫妇的染色体结构异常分析

目的:探讨复发性流产与染色体结构异常的关系。方法:对有复发性自然流产史的112对夫妇进行外周血染色体核型分析。结果:112对夫妇中有20例染色体核型异常,异常检出率8.9％。其中平衡易位4例,复杂易位1例,臂间倒位8例,Y染色体变异6例,占2.7％;常染色体变异1例。结论:复发性流产夫妇任何一方的染色体结构异常均可引起流产等不良妊娠,9号染色体倒位和Y染色体变异与早期流产的关系密切。     

FISH快速检测自然流产绒毛染色体非整倍体异常的临床价值

目的:探讨应用荧光原位杂交技术(FISH)对早期自然流产绒毛染色体非整倍体检测的临床价值。方法:对30例因自然流产行清宫术的绒毛组织行FISH分析,使用7种探针对13、16、18、21、22号和X、Y染色体进行了检测,并对这30例流产夫妇行外周血淋巴细胞染色体常规核型分析。结果:FISH分析的30例自然流产的绒毛组织中,有17例检测出了异常信号,检出率为57%,其中8例16-三体、2例22-三体、2例13-三体和5例三倍体。30例自然流产夫妇外周血淋巴细胞染色体核型未见异常。结论:FISH技术可以快速、简便地检测出流产物绒毛组织染色体非整倍体的异常,FISH技术的应用可以为自然流产夫妇遗传咨询提供重要的信息。     

2178对自然流产史夫妇染色体分析

目的:分析自然流产史夫妇外周血染色体异常核型的种类及其在男女性中的分布特点。方法:检测2178对自然流产史夫妇外周血淋巴细胞染色体核型,分析比较染色体变异的种类、发生率及其在男、女性中的分布差异。结果:2178对(4356例)自然流产史夫妇中发现染色体异常539例(12.37%),其中男266例,女273例。染色体结构异常87例,其中相互易位最多见为58例(66.7%,58/87),有27例为世界首报染色体结构异常核型。其次为罗伯逊易位13例,倒位6例,插入、缺失等其他异常核型10例。染色体数目异常8例,包括2例标记染色体、1例XYY及5例不同类型的X染色体非整倍体嵌合。多态性改变444例中,D/G组染色体随体区变异最为多见,共271例(61.04%,271/444)。结论:自然流产史夫妇外周血染色体异常均有发生,男女性发生率并无明显差异,染色体异常以相互易位为主。染色体多态性发生率较高,对以自然流产史就诊的夫妇,有必要同时进行染色体检查,有助于病因的分析与诊断,并为临床咨询及后续生殖干预提供依据。     

染色体异态性与早期生殖障碍

目的:探讨染色体异态性与早期生殖障碍的关系。方法:采用G、C显带染色体核型分析等方法,比较染色体异态核型人群和正常核型人群的早期生殖障碍的发生率。结果:染色体异态组早期生殖障碍率高达45.7％,明显高于染色体正常组(10.6％),二者比较具有高度显著性差异。1、9和16号染色体长臂次缢痕增长的异态类型引起的早期生殖障碍发生率较高,均在50％以上。结论:染色体异态与早期生殖障碍存在明显的关系,染色体异态可能导致早期生殖障碍。     

75对早期自然流产夫妇的细胞遗传学分析

本文收集自然流产夫妇共75对临床资料,发现5例染色体异常,占受检人数的3.33%,并检出3例随体区变异.复习有关文献并结合异常病例探讨,表明:平衡易位携带者是流产夫妇中最常見的染色体异常,其检出率与流产次数和发生时间有一定的关系,具有重要的临床意义.     

2 071例自然流产患者染色体核型分析及临床意义

染色体异常是自然流产发生的常见原因。我们回顾性总结自然流产患者的核型资料 ,为产前诊断提供依据。一、资料与方法从 1980年 1月到 1998年 8月 ,因自然流产而在本院行外周血淋巴细胞染色体检查的患者共 2 0 71例 (男性 10 0 5例 ,女性 10 6 6例 ) ,根据流产次数分为 :自然流产组 (1～2次 ) 12 5 5例 ;反复自然流产组 (3～ 10次 ) 816例 ,对上述患者的染色体核型进行回顾性分析。核型采用Ｇ显带。异常核型不包括多态性变化。嵌合体指存在两种或两种以上细胞系 ,每种细胞系中细胞数量等于或超过分析总数的 2 %。二、结果1 染色体核型异常率…     

661对不良孕产史夫妇外周血染色体分析(附2例世界首报核型)

染色体异常是导致自然流产、死胎、畸胎的常见因素之一。我们对 6 6 1对有以上病史的夫妇进行了染色体分析 ,发现异常核型 6 9例 ,其中 2例鉴定为世界首报核型。现报道如下。1　对象和方法自 1990年以来在我院遗传咨询门诊和妇产科门诊中 ,经一般临床检查未发现明确原因的自然流产、死胎、畸胎夫妇共6 6 1对。按常规方法作外周血淋巴细胞培养及染色体制备 ,G显带 ,每例计数至少 30个中期分裂组 ,分析 3个以上染色体核型。并对 2例世界首报核型夫妇进行追踪回访。2　结果2 .1　 6 6 1对夫妇中发现异常核型 6 9例 ,异常率 5 .2 2 %。自然流产…     

283例脐血管穿刺诊断胎儿染色体异常临床分析

目的:评价超声引导下脐血管穿刺术在产前诊断中的应用,探讨胎儿染色体异常的临床高危因素,提高脐血管穿刺对胎儿异常染色体核型的检出率.方法:选取在我院超声引导下经腹脐血管穿刺并行染色体检查的孕妇283例,进行染色体核型分析,比较不同产前诊断指征组的异常染色体检出率及相关因素分析.结果:穿刺成功率100%,胎儿脐血管穿刺的主要并发症为穿刺点出血33例(11.66%),胎心心动过缓5例(1.77%).共检出异常染色体核型25例,检出率8.83%.发现夫妇中有染色体异常与胎儿染色体异常存在相关性(r=22.348,P=0.000).结论:超声引导下经腹脐血管穿刺抽取脐血在产前诊断中是较成熟有效的操作技术.夫妇双方有染色体异常是进行产前诊断的必要指征.     

荧光原位杂交技术在自然流产绒毛染色体核型检测中的应用

目的 探讨荧光原位杂交(fluorescence in situ hybridization,FISH)技术在提高自然流产绒毛染色体核型分析准确性和异常核型检出率中的作用.方法 采用18、X、Y染色体着丝粒探针和13、21及16、22染色体单一序列探针,对100例自然流产绒毛标本同时进行FISH检测和常规染色体核型分析,比较并分析2种方法的一致性及差异.结果 (1)染色体核型分析:100例流产绒毛标本培养成功率为89.0％(89/100).检出异常核型51例,异常核型检出率为57.3％(51/89),其中常染色体非整倍体37例、性染色体非整倍体4例、三倍体2例、四倍体1例,还有1例核型为68,XX,结构异常6例.(2) FISH技术检测:100例流产绒毛标本均获得FISH结果,成功率为100.0％.共检出38例染色体异常,异常核型检出率为38.0％(38/100),其中常染色体非整倍体25例、性染色体非整倍体5例、三倍体3例,还有1例13、16、18、21、22号染色体均为三倍体,嵌合体4例.(3)核型分析与FISH结果的异同:在绒毛标本培养失败的11例中,FISH检测出染色体异常2例,占18.2％(2/11);核型为46,XY者中FISH检测出3例非整倍体嵌合体;核型为46,XX者中FISH检测出染色体异常2例.FISH能检测出的染色体异常占所有染色体异常核型的65.5％(38/58).结论 FISH技术能简便、快速的检测自然流产绒毛染色体非整倍体数目异常,联合常规染色体核型分析能提高染色体核型分析的准确性和异常核型的检出率.     

全外显子组测序技术在超声指标异常胎儿遗传病中应用价值分析

目的:探讨全外显子组测序(WES)技术在超声指标异常,但染色体核型分析及染色体微阵列(CMA)检测结果阴性胎儿中的临床应用价值。方法:回顾性分析2018年6月至2021年4月在长沙市妇幼保健院产前超声检查中发现超声指标异常胎儿1080例,对胎儿羊水或脐血进行CMA检测和染色体核型分析,并对部分染色体核型分析及CMA结果阴性胎儿进行WES检测,所有变异等级根据美国医学遗传学和基因组学学会遗传变异分类标准与指南进行分类。结果:1080例胎儿全部经过CMA检测,其中947例同时进行了染色体核型分析,CMA检测到136例拷贝数变异(CNV),检出率12.6%(136/1080),其中85例致病性CNV、51例致病意义未明。染色体核型分析共检出91例阳性,检出率9.6%(91/947),其中非整倍体变异54例,结构变异9例,染色体正常变异28例。另外对18例染色体核型分析和CMA检测阴性样本进行WES检测,结果显示5例(27.8%)致病性基因变异,5例可能致病性基因变异,3例意义未明变异,5例未发现异常。结论:在染色体核型分析和CMA检测未能明确超声指标异常胎儿遗传学病因的情况下,WES有助于提...     

Chromosome study of couples with repeated spontaneous abortions

The incidence of chromosomal abnormalities was evaluated in couples with a history of repeated abortions. The study included 14 couples with a history of 2 or more spontaneous abortions. Chromosome analysis was carried out on both marital partners from peripheral lymphocyte cultures. In every case, 30-62 metaphases were counted, and at last 20 karyotyped. Among the 14 couples, chromosome anomaly was found in 1 of the partners in 1 case. The patient, a 29-year-old female, was admitted to the hospital in the 36th week of her 10th pregnancy. In addition to an induced abortion and a premature delivery, her history included 7 spontaneous abortions at the 1st or 2nd month. Chromosome analysis of her peripheral blood revealed neither numerical nor structural aberations. In the 38th week, the patient gave birth ato a 3990 gm healthy boy whose karyotype of the cord blood also proved to be normal. The karyotype of the patient's husband revealed 45 chromosomes in 32 observed cells, and a chromosome was missing from each of the D and G groups. It was not possible to include in any of the groups a medium-sized, subterminal chromosome, diagnosed as D/G translocation. The husband proved to be a balanced D/G translocation carrier. When the pedigree was prepared, it was found that the younger sister of the husband had given birth to a child 1 month before term. Both the sister and her child were studied. The sister proved to be a balanced D/G translocation carrier. The child had translocational Down's syndrome: the D/G translocation occured in an unbalanced form. A table lists the results of chromosome investigations of cases of repeated abortions. Of 1066 married partners, chromosome aberations or variations responsible for multiple abortions were found in 70 (6.5%). Of these, 26 proved to be translocations. This incidence, 2-4%, is higher than the .4% in the general population. The results add credence to the argument that chromosome aberation may play a role in the causal background of recurring abortions. It is possible that with special staining procedures some aberations can be demonstrated in cases hitherto considered normal. In cases of repeated abortion, cytogenetic examination of both partners is routinely justified. In cases of chromosome aberations valuable data can be gained to serve as a basis for genetic counseling. When examining women with recurrent abortions, it should be possible to select patients to whom the possibility of intrauterine cytogenetic diagnosis can be offered.     

502对反复自然流产夫妇的染色体研究

对反复自然流产２次或２次以上的５０２对夫妇进行外周血培养Ｇ显带染色体核型分析。发现异常核型５２例，占５．１８％；其中平衡易位３８例，占７３．０８％；染色体数目异常５例，占９．６２％；嵌合体８例，占１５．３８％；９号染色体臂间倒位１例，占１．９２％。结果表明，平衡易位携带者是反复自然流产夫妇中最常见的染色体异常，故流产史是检出人群中平衡易位携带者的重要临床指征。     

Cytogenetic studies in couples with repeated spontaneous abortions

Chromosome studies were carried out on both partners of 509 couples with a history of two or more spontaneous abortions. 1) Twenty-six individuals (2.6%) were carriers of a major chromosome abnormality. This incidence is at least six to seven times higher than that in the general adult population. 2) Of these, 10 were reciprocal translocations, 10 robertsonian translocations and 6 numerical aberrations of gonosomes. None of the carriers showed abnormal phenotypes. 3) Chromosome aberrations were more frequent in the women than in their husbands. There were 19 abnormalities in females and 7 in males. 4) The use of banding techniques in chromosome analysis improves the detection of balanced reciprocal translocations. 5) Prenatal diagnosis was performed in 5 subsequent pregnancies of 4 balanced translocation carriers. The fetal karyotypes were 2 normal and 3 balanced translocations. It would seem reasonable to recommend chromosome analysis for couples with repeated spontaneous abortions.     

Cytogenetic study in 50 couples with recurrent abortions

The presence of chromosome abnormalities in couples with repeated spontaneous abortion is known even if the phenomenon is far from a complete assessment. A cytogenetic investigation in 50 couples with a history of two or more spontaneous abortions is referred to in this study. A peripheral blood lymphocyte culture was harvested for each subject and the slides were stained by G- and C-banding. Of the 100 individuals examined, 4 were carriers of balanced translocations, 3 of which were of the Robertsonian type. A chromosomal fragility (chromatidic and/or chromosomic gaps) was seen in 2 cases. The incidence of balanced translocations found here is 8% which is near to the mode (about 9%) observed in previous studies. Those frequencies are greater than in the general population (0.1-0.4%). This indicates that balanced translocations have some importance in causing abortion while this is not the case for other chromosomal abnormalities (e.g. pericentric inversions). Thus, cytogenetic analyses should be recommended in couples with repeated spontaneous abortions, when clinical data fail to clarify the cause.     

Chromosomal analysis in Japanese couples with repeated spontaneous abortions

Balanced chromosome rearrangements have been found at an increased frequency in couples with pregnancy wastage, especially recurrent spontaneous abortions, compared with the general population. In the present study, chromosomal analysis of peripheral blood cells, as one of the routine examinations of patients with repeated reproductive wastage, was performed on both partners of 639 Japanese couples. Among the 639 couples, 32 major chromosomal anomalies (5.0%) and 23 minor chromosomal variants (3.6%) were found. Both partners of one couple had an abnormal karyotype. The 32 major anomalies consisted of 19 reciprocal translocations, 9 Robertsonian translocations, one large inversion, two triple-X females, and one Turner mosaicism. The 23 minor variants included 15 cases of pericentric inversion of chromosome 9. The total number of pregnancies in the 54 couples with chromosomal anomalies was 181, but they resulted in only 18 normal liveborn neonates, indicating a 90.1% abortion rate. The present statistical study indicates that major chromosomal anomalies seem to be involved in repeated reproductive wastage.     

Cytogenetic Studies in Recurrent Fetal Loss

The results of cytogenetic studies of 19 couples with a history of a malformed stillbirth plus 1 or more early spontaneous abortions were compared with those of 66 couples with a history of 2 or more early spontaneous abortions and a control group of 583 couples with no history of fetal loss. The incidence of structural chromosome abnormality was highest in the first group and there was no significant difference between groups in the incidence of polymorphisms of the 9 and Y chromosomes.     

Chromosome analysis in cases with repeated spontaneous abortions.

G-banded chromosome complements were analyzed from couples and individuals who had experienced 3 unexplained spontaneous abortions. One woman was found to be a carrier of a t(13q14q) chromosome; all other subjects had normal-appearing karyotypes. Banded chromosome studies are recommended for couples with repeated abortions in the absence of any apparent cause.     

Karyotypes of 1142 couples with recurrent abortion

Cytogenetic analysis was performed on 1142 couples with recurrent pregnancy loss. The frequency of major chromosomal abnormalities per couple was 4.8%. Among 771 couples who had only abortions, the rate of rearrangement did not correlate with the number of abortions. The highest incidence of cytogenetic abnormalities (6.6%) was found in 256 couples with abortion and a normal child. With regard to pregnancy outcome, no unbalanced fetal karyotype was found in prenatal diagnoses, and 40 normal children were born. The risk of unbalanced fetal karyotype is therefore low, but probably high enough for these couples to be offered the possibility of a prenatal diagnosis.