Prevalence of chromosomal abnormalities in couples with recurrent miscarriage

Chromosome abnormalities affect 6.93% of Tunisian couples with recurrent miscarriage.     

自然流产夫妇染色体着丝粒点的研究

对２０对自然流产夫妇（流产组）和１０对已生育正常胎儿并无自然流产史的夫妇（对照组）的外周血染色体着丝粒点（Ｃｄ）进行分析。结果：Ｃｄ消失频率，流产组和对照组分别平均为０．３６±０．１５／细胞和０．２２±０．１３／细胞，两组比较，差异有极显著意义（Ｐ＜０．０１）。小Ｃｄ频率，流产组和对照组分别平均为０．３４±０．１４／细胞和０．３９±０．２８／细胞，两组比较，差异无显著意义（Ｐ＞０．０５）。着丝粒点－核仁组织者区（Ｃｄ－ＮＯＲ）融合频率，流产组和对照组分别平均为０．３１±０．２０／细胞和０．２０±０．１９／细胞，两组比较，差异有显著意义（Ｐ＜０．０５）。提示：自然流产夫妇Ｃｄ消失和Ｃｄ－ＮＯＲ融合频率增高，可能是造成自然流产的原因之一，对自然流产夫妇的Ｃｄ频率进行检测，有一定的临床意义。     

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.     

Chromosomal aberrations in 2000 couples of Indian ethnicity with reproductive failure

Constitutional chromosomal aberrations contribute to infertility and repeated miscarriage leading to reproductive failure in couples. These aberrations may show no obvious clinical manifestations and remain undetected across multiple generations. However, infertility or recurrent spontaneous pregnancy loss, and/or genotypic/phenotypic aberrations may be manifested in the progeny during gametogenesis. The current study was a retrospective analysis to examine the chromosomal aberrations and prevalence in 2000 couples of Indian ethnicity with reproductive failure. Cytogenetic analysis via conventional G-band karyotyping analysis was carried out on phytohaemagglutinin stimulated peripheral blood lymphocytes, cultured in RPMI1640 medium. The chromosomes were enumerated as per International System for Human Cytogenetic Nomenclature at 500–550 band resolution, and recorded in the screening sheets. Chromosomal aberrations were detected in a total of 110 (2.78%) couples, with structural chromosomal aberrations in 88 cases including reciprocal translocations in 56 cases, Robertsonian translocations in 16 cases, inversions in eight cases, deletions in three cases, derivative chromosomes in five cases and numerical chromosome aberrations in 23 cases. The study emphasizes the importance of cytogenetic work up in both the partners associated with a history of reproductive failure. Genetic counselling with an option of prenatal diagnosis should be offered to couples with chromosomal aberrations.Alteration in the number or structure of chromosomes is associated with adverse obstetric outcome in the form of infertility or recurrent miscarriages. Most of these aberrations are balanced and hence, the person does not manifest any obvious clinical signs and symptoms. However, because of the formation of abnormal gametes (i.e. the eggs and sperm), these chromosomal aberrations result in infertility and recurrent spontaneous pregnancy losses. In the present study, we studied 2000 couples of Indian ethnicity with reproductive failure. Karyotyping was done on the blood sample of these couples using standard protocols. Chromosomal aberrations were detected in a total of 110 (2.78%) couples with structural chromosomal aberrations in 88 cases including reciprocal translocations in 56 cases, Robertsonian translocations in 16 cases, inversions in eight cases, deletions in three cases, derivative chromosomes in five cases and numerical chromosome aberrations in 23 cases. Thus, our study emphasizes the importance of cytogenetic work up in both the associated partners with history of reproductive failure which would help in better patient counselling and management.     

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.     

The frequency of chromosomal abnormalities in patients with reproductive failure

Objective

To investigate the ratio of chromosomal abnormalities in recurrent fetal wastage.

Study design

We conducted a study of the cytogenetic data of 645 couples (1290 patients) with recurrent fetal wastage examined at the Department of Medical Biology and Genetics, Trabzon, Turkey. Couples who had first trimester miscarriages/abortion, preceded or followed by a second or third trimester fetal death/fetal abnormalities were recruited from Obstetrics and Gynecology Clinics for cytogenetics analysis.

Results

Chromosome abnormalities were found in 25 (3.86%) patients. The chromosomal abnormalities were structural (3.71%) and numerical (0.15%). Polymorphisms of heterochromatin blocks and inv(9) were shown in 115 (17.51%) patients.

Conclusions

Chromosome analyses are an important and necessary part of the etiological research in couples with recurrent fetal wastage.     

Assisted reproductive care in serodiscordant couples whose man is infected with HIV

Serodiscordant couples whose man is infected by human immunodeficiency virus have actually induced sterility by condom use. Since 2001, in France, assisted reproduction in serodiscordant couples has been facilitated thanks to the decree of 10th May 2001. In spite of the immense social and scientific advances in Assisted Reproductive Techniques, in such couples, limitation of care remains in certain cases. This study reviews current practices in France and other countries. Limits due to present reproductive and virological methods or legal conditions are underlined. In agreement with current scientific knowledge we suggest new modalities of reproductive care in serodiscordant couples with HIV infected men.     

Screening for chromosomal abnormalities in 2650 infertile couples undergoing ICSI

Chromosomal abnormalities are the major contributor to the genetic risks of infertility treatment associated with intracytoplasmic sperm injection (ICSI). The study objective was to assess prospectively the frequency of chromosomal aberrations in couples undergoing ICSI. A total of 2650 infertile couples (5300 patients) underwent chromosome analysis before undergoing ICSI in the Egyptian IVF-ET Centre. Heparinized blood samples were cultured, harvested and banded according to standard methods. Overall, 96.94% of the patients studied (5138/5300) had a normal karyotype, while the remaining 162 patients (3.06%) had an abnormal karyotype. Male patients constituted the majority of abnormalities; 138 males (85.19%) and 24 females (14.81%). These chromosomal aberrations included 117 cases (2.2%) of sex chromosome abnormalities; 113 males and four females. Forty-five patients (0.85%) had autosomal aberrations; 25 of them were males and 20 were females. The current data show that chromosomal abnormalities affect 3.06% of infertile patients, and occur in both sexes, but more predominantly in males undergoing ICSI for male factor infertility. It is recommended that chromosomal analysis be performed before undergoing ICSI, to identify patients who can be offered preimplantation genetic diagnosis.     

Mycoplasma and human reproductive failure. I. The occurrence of different Mycoplasmas in couples with reproductive failure

An epidemiological study of the occurrence of different Mycoplasmas in seminal fluid and in cervical secretions from patients with reproductive failure and in 2 control groups is described. All patients underwent a series of fertility tests before inclusion in the study and those with abnormal findings were excluded. Group A consisted of 36 couples in whom no cause of infertility could be found and group B of 19 couples in whom serum antibodies agglutinating donor sperm in different titers were detected in the women but not in the men. 2 control groups consisted of 40 women in group C attending a prenatal clinic and 23 men in group D married to women in the 3rd-9th month of pregnancy. Among the subjects, sperm specimens were obtained from the men and cervical swabs from the women on the 2nd or 3rd day of the menstrual period and cultured for Mycoplasmas. Cervical swabs taken after postcoital tests, and cervical and sperm specimens taken during the luteal phase were also cultured. Cervical and sperm specimens from the controls were also cultured. In group A, large colony-forming Mycoplamas were found in cervical secretions of 7 women and in seminal fluid of 2 men. T-Mycoplasmas were found in both spouses in 28 couples and in 3 women and 2 men with negative partners. In group B, large colony-forming Mycoplasmas were found in 2 women and 1 man whose partners were negative. T-Mycoplasmas were isolated from both spouses in 17 of the 19 couples and from the wife only in 2 couples. In group C, classical Mycoplasmas were found in 3 and T-Mycoplasmas in 9 of the 40 cases. In group D, no classical Mycoplasmas were discovered but T-Mycoplasmas were found in 6 of the 23 cases. The observed difference in frequency of T-Mycoplasmas between patient and control groups was highly significant statistically. T-Mycoplasmas were found growing from the spermatozoa but not from the supernate in 7 of 10 specimens obtained from men in group B. In 2 of the remaining 3 specimens, T-Mycoplasmas were found both in spermatozoa and in the supernate, while in the last specimen, no growth was found.     

Etiologies and subsequent reproductive performance of 100 couples with recurrent abortion.

From 1958 through 1977, 100 couples with documented recurrent reproductive failure were evaluated in the reproductive endocrine unit of the Medical College of Georgia. All couples underwent cytogenetic studies, radiologic evaluation of the Müllerian system, and timed endometrial biopsy. Recurrent pregnancy wastage was found to be associated with genetic disorders in 25 couples. Müllerian anomalies in 15, endocrine anomalies in 23, and negative findings in 37. The subsequent reproductive performance of each group is reviewed.     

Cytogenetic studies in patients with reproductive failure

BACKGROUND: Cytogenetic studies in patients with reproductive failure AIM: To investigate the contribution of chromosomal abnormalities in sub fertility and in couples with repeated abortions. METHODS: Hundred and 13 couples who had at least two or more spontaneous abortions and 65 women and 63 men with infertility were analyzed cytogenetically. RESULTS: Major chromosomal rearrangements were found in 8% and minor variants in 6% in the study population. Major chromosomal aberrations were judged to explain 4.9% of recurrent abortions and 13% of infertility. Chromosomal abnormalities in infertile men occurred in 5% and in infertile women in 21.5%. The chromosomal abnormalities were structural (57%), numerical (18%) or mosaics (25%). CONCLUSIONS: Chromosomal aberrations in recurrent abortions are mostly structural ones and those in female infertility mosaicism of sex chromosomes. Turner's syndrome, Turner variants and XY females are detected as a cause of female infertility. The structural and numerical aberrations of either sex or autosomal chromosomes were found in infertile men.