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 investigation in 413 couples with spontaneous abortions.

413 couples with one or more spontaneous miscarriages were karyotyped. Observed chromosomal rearrangements were classified as major rearrangements, i.e. Robertsonian and reciprocal translocations, pericentric and paracentric inversions, supernumerary small metacentrics, and minor rearrangements, i.e. pericentric inversions of chromosome 9, and constitutional fragility of particular chromosome sites. 2.30% of the individuals were carriers of a major rearrangement, which represents a ten-fold increase when compared to the general population. The contribution of each type of rearrangement is unequal, the most important being pericentric inversions (36 times more frequent than in the general population). Contrary to data from the literature, the probability of finding a rearrangement does not seem to increase with the number of miscarriages.     

Chromosome abnormalities in 118 couples with recurrent spontaneous abortions

Cytogenetic studies were carried out on 118 couples with recurrent spontaneous abortions. Four major chromosomal abnormalities were found including two 13/14 Robertsonian translocations, one t(7;12) and one t(1;10) reciprocal translocation. The incidence of chromosomal abnormalities in this study was 3.39%, which is lower than the mean value of the published data. The clinical significance of balanced translocations in recurrent reproductive loss is discussed.     

Cytogenetic findings in fifty-five couples with recurrent fetal wastage

Balanced chromosomal translocations in parents and Müllerian abnormalities constitute defined causes of reproductive wastage. Fifty-nine couples with histories of recurrent abortion with or without fetal malformations were evaluated with cytogenetic studies and gynecography. In 44 of the couples with pure abortion histories of two or more spontaneous abortions, three (6.8%) balanced carrier parents were identified. In 11 couples with a mixed history of abortion plus fetal malformation, 3 (27.3%) had balanced translocations in one of the parents. The over-all incidence of Müllerian abnormalities in the group of 59 patients was 11.9%.     

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.     

Cytogenetic,Y chromosome microdeletion,sperm chromatin and oxidative stress analysis in male partners of couples experiencing recurrent spontaneous abortions

Purpose  

Etiology in majority of couples experiencing recurrent spontaneous abortions (RSA) is still unknown. The aim of the study was to find the role of cytogenetic abnormalities, Y chromosome microdeletion, oxidative stress (OS) and sperm DNA fragmentation in male partners of couples experiencing RSA.     

Chromosome studies in couples with repeated abortions

In a nonselected group of 26 women with 3 or more abortions and in 17 of the respective husbands, chromosomes from lymphocyte cultures were investigated. 6 persons were found to have abnormal chromosomes; in 3 women variations in the length of autosomes were found (46,XX,Gp+; 46,XX ,Gp-; 46,XX,Cq+). 1 woman showed a trisomy C mosaicism in 4% of the analyzed cells. A second one had in 4% of the mitoses a translocation mosaic with a B/D-translocation(46,XX/46,XX,t(Bq+; Dq-)). Another woman with normal karyotype showed in 3 different analyses an increased rate of secondary chromosome aberrations with a high percentage of exchanges.     

The prevalence of recurrent spontaneous abortions, cancer, and congenital anomalies in the families of couples with recurrent spontaneous abortions or gestational trophoblastic tumors.

This study extends our previous work on the genetics of recurrent spontaneous abortion and of gestational trophoblastic tumors in an ethnically homogeneous population of Chinese in Taiwan by comparing the prevalence of recurrent spontaneous abortions, cancer, and congenital anomalies in the first-, second-, and third-degree relatives of the index couples to that of normally fertile couples from the same population. The rationale for this study was to provide another test for our hypothesis that genes linked to the major histocompatibility complex are responsible for the diseases in the index couples. If they are, these genes should segregate with a higher frequency in the relatives of the index couples than in the relatives of normally fertile couples and lead to a higher prevalence of these diseases in the extended families. Such a difference was found and adds support to our hypothesis that major histocompatibility complex-linked genes affect growth, development, and susceptibility to cancer.     

Cytogenetic study of peripheral lymphocyte culture in couples with habitual abortion

We report on a cytogenetic investigation of lymphocytes in 241 couples and six women with at least three abortions. We found a balanced reciprocal translocation three times (1.2% of couples) and a balanced Robertsonian translocation twice (0.8% of couples). Four numerical aberrations of the gonosomes were detected (three of them as a mosaic), and one deletion Xq- as a mosaic. The heterochromatic region of the chromosomes 1, 9 or 16 was enlarged in 12 couples (4.9%). There was no couple with a pericentric inversion of the chromosomes 1 or 9. The enlarged Y-chromosome (five males) according to our results does not play any important role for the reproduction. Five translocations and one supernumerary chromosome each in one cell only indicate an enlarged frequency of breakage events in couples with habitual abortion.     

X-chromosome hyperploidy in couples with multiple spontaneous abortions

From 1973 to 1983, cytogenetic analyses were performed on blood samples from 144 couples referred because of two or more spontaneous abortions. Any couple with abnormal offspring in addition to the miscarriages was excluded from the study. Two balanced translocations were found in the 288 individuals examined (0.7%). There was a high frequency of phenotypically normal individuals with cells hyperploid for the X chromosome. This may be a manifestation of an impaired genetic control of chromosome disjunction in these patients.     

309对早期自然流产夫妇的染色体分析——附4例世界首报核型

目的 :分析早期自然流产与染色体异常核型的关系。方法 :检测 30 9对早期自然流产夫妇双方的外周血淋巴细胞染色体核型。结果 :早期自然流产夫妇中异常核型检出率明显高于普通人群 ,总检出率为 6 .95 %。染色体异常 2 0例 :其中平衡易位 18例 (4例为世界首报核型 ) ,增加额外小染色体 2例 ;染色体异态 2 3例 :9号染色体臂间倒位 7例 ,D、G组随体变异 2例 ,9、16号次缢痕异染色质区变异 2例 ,Y染色体异态 12例。结论 :染色体异常和异态是导致早期自然流产的重要原因之一 ,对早期自然流产夫妇进行染色体检查是必要的 ,可以寻找流产原因 ,为优生优育提供依据     

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 abnormalities in 1162 couples with recurrent miscarriages in Southern region of India: report and review

Purpose  

The purpose of the present study was to investigate the contribution of chromosomal anomalies and the frequency of a particular type of aberration in couples with recurrent miscarriages.     

Embryonic development in patients with recurrent abortions

The data for this study has been gathered from a morphological examination of the embryos and fetuses aborted in the Vancouver General Hospital during the years 1965-1969. Results showed that growth disorganization occurs most frequently in nulliparous recurrent aborters and least frequently in patients who had had a viable child before. Also it appeared that blighted ova tended to recur in consecutive specimens. The examination of the specimens showed that the type of abnormality had a higher percentage of lethal growth disorganization occuring in the patients who have had recurrent abortions and no viable children. The persistent production of the lethal anomaly can be the cause of recurrent abortions in some patients.     

Cytogenetic studies of spontaneous abortions in humans

Karyotypes were analyzed using directing method for chorionic villi chromosome preparation in 52 specimens from spontaneous abortions. A paralleled cytogenetic study of 51 specimens from induced abortions was carried out. Among 52 specimens from spontaneous abortions, 11 (21%) were chromosomally abnormal and 82% of these were found to have autosomal trisomies (3,14,16,19,20 and 21). Trisomy 16 was the most common abnormality accounting for 44% of trisomic abortuses. A double trisomic abortus with a 48, XX, +16, +20 karyotype was detected. These results showed that chromosome abnormality is an important cause of spontaneous abortion. The relationship between chromosomal abnormalities of spontaneous abortuses and the factors relevant to the abnormalities are discussed.     

Mixed lymphocyte reactivity nonresponsiveness in couples with multiple spontaneous abortions

This study establishes the optimum time to administer colchicine to inhibit ovulation in the rabbit, and it examines the effect of colchicine on prostaglandin biosynthesis in ovulatory follicles. Colchicine (2 mg/kg) was given at intervals ranging from 50 hours to 2 hours before ovulation. The ovulation efficiency was significantly reduced when colchicine was administered between 30 hours and 9 hours before ovulation, with maximum inhibition occurring at 20 hours before ovulation. Normal elevation in prostaglandin biosynthesis at the time of ovulation was significantly reduced when colchicine was given at 20 hours before ovulation, but not when it was given at 9 hours or 2 hours before ovulation. The results suggest that the mechanism by which the antimitotic agent colchicine inhibits prostaglandin biosynthesis and ovulation may be different from that of the nonsteroidal antiinflammatory agent indomethacin.     

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。     

Spontaneous abortions in couples declining multifetal pregnancy reduction

Multifetal pregnancy reduction (MFPR) has clearly improved the outcomes of multifetal gestations. Several recent reports have also suggested improved outcomes in nonreduced cases, but there have been methodologic concerns about the denominators, i.e. have all cases been included and is there a 'hidden mortality' of unknown lost cases. Here we assessed the outcome of patients telephoning to discuss MFPR, but who chose not to have the procedure. Over a 3-year period, 446 patients had MFPR by one operator. Nineteen patients chose not to have the procedure. There were 11 preterm births, 1 term delivery, and 5 spontaneous losses (7 of 17) prior to 24 weeks, a loss rate of 35%. Two patients delivering triplets had a loss of 1 fetus/neonate. These data suggest that the loss rates of nonreduced pregnancies may be higher than generally thought, making the improvements with MFPR even bigger than generally realized.