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Examples of structural and numerical chromosomal abnormalities detected in patients with infertility: (a) the most frequent nonnfamilial reciprocal translocation t(11;22)(q23;q11); (b) Robertsonian translocation der(13;14)(q10;q10); (c) partial karyotype of a patient with Klinefelter syndrome-sex chromosomes presented by XXY; (d) partial karyotype of a patient with 47,XYY synn drome-sex chromosomes presented by XYY.
Source publication
The results of cytogenetic studies of 3414 patients with infertility (1741 women and 1673 men) were analyzed retrospectively to estimate the frequency and types of chromosomal abnormalities in infertile patients. Chromosomal abnormalities were detected in 2.37% of cases (81/3414), corresponding to an abnormality frequency of 2.79% among men and 1.9...
Contexts in source publication
Context 1
... such rearrangements are enriched by ATrich palindromic repeats, which are prone to doubleestranded DNA breaks. The reparation of such breaks by nonnhomologous ends binding leads to the formation of such translocations [24]. The most frequent nonnfamilial reciprocal translocation- t(11;22)(q23;q11) was detected in two patients of the studied group (Fig. ...
Context 2
... of Robertsonian translocations in the group of infertile patients was 0.41%. Robertsoo nian translocations were the third most frequent type of chromosomal abnormalities, constituting 17.3% of all detected abnormalities. 78.6% of Robertsonian translocations were presented by translocation involvv ing chromosomes 13 and 14-der(13;14)(q10;q10) (Fig. 2b) Sex chromosome abnormalities comprised 23.5% of observed chromosomal abnormalities (19/81) and were presented by aneuploidies of sex chromosomes in 84% of cases (16/19) and structural rearrangements of chromosome Y in 16% of cases (3/19). Klinefelter syndrome (karyotype 47,XXY) was the most frequent type of sex chromosome aneuploidies ...
Context 3
... comprised 23.5% of observed chromosomal abnormalities (19/81) and were presented by aneuploidies of sex chromosomes in 84% of cases (16/19) and structural rearrangements of chromosome Y in 16% of cases (3/19). Klinefelter syndrome (karyotype 47,XXY) was the most frequent type of sex chromosome aneuploidies detected in infertile men (11/14) (Fig. 2c). Klinefelter syndrome represents 67% of chromosomal abnormalities in men with azoospermia and 19% in men with oligozoosperr mia [28]. Mosaic karyotype mos47,XXY/46,XY is regg istered in approximately 20% of cases. The detection of the additional clone of cells with normal karyotype improves the prognosis, since carriers with mosaicism ...
Context 4
... mosaicism are normally characterized by severe oligozoospermia, not azoospermia [29]. For instance, spermiologic investigation revealed severe oligozoospermia with sperm counts less than 5 × 10 6 /ml in two patients of the studied group. The second most frequent gonosomal abnormality in infertile men was YYchromosome diss omy (karyotype 47,XYY) (Fig. 2d), which was detected in three cases (0.18%; 3/1673). It may be assumed that some carriers of disomy Y have normal spermatogenesis, since the frequency of this abnorr mality in the group of sperm donors is close to that in the general population (0.05%) ...
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Background:
The Patient-Centred Questionnaire-Infertility (PCQ-Infertility) has proven to be a reliable instrument to assess the extent of patient-centredness of fertility care in European countries.
Aims:
To validate the PCQ-Infertility in New Zealand (NZ) and to compare results with international experience.
Materials and methods:
A cross-se...
Citations
... Recent studies have discussed the role of abnormalities in men's sperm genomes, such as chromosomal abnormalities, chromatin fragmentation, and microdeletions in the azoospermia factor (AZF) region, on frequent miscarriages in their wives (Pal et al., 2018;Tan et al., 2019). Infertility has been linked to microdeletions of the Y chromosome in numerous studies (Ambulkar & Pande, 2017;Kaminski et al., 2020;Liu et al., 2016;Pylyp et al., 2015), so it is also possible that repeated abortions are related to these microdeletions. The prevalence of AZF region microdeletions in men can vary from 2% to 10%, depending on the society (Zargar et al., 2020). ...
Background
Recent studies have linked recurrent pregnancy loss (RPL) to abnormalities in the sperm genome, specifically microdeletions in the azoospermia factor (AZF) region. This study investigated the potential association between Y chromosome microdeletions in the AZF region and RPL in Iranian couples.
Methods
The research presents a case–control study of 240 men: 120 whose partners experienced recurrent miscarriage, and 120 who had successful pregnancies without history of miscarriage. The study used semen parameters, hormone analyses, and microdeletion analysis via multiplex PCR and the YChromStrip kit. Thus, the sequence‐tagged site (STS) markers of AZFa (sY84, sY86), AZFb (sY127, sY134), and AZFc (sY254, sY255) regions were examined.
Results
The variations in semen parameters and sex hormone levels between cases and controls are suggest impaired testicular function in men whose partners had recurrent miscarriages ( p < 0.05). Furthermore, the study revealed a negative correlation between sperm count and follicle‐stimulating hormone (FSH) level, and a positive one between sperm motility and testosterone concentration. There were no microdeletions in the control group, while the RPL group showed 20 deletions in AZFb (sY134) (16.66%) and 10 deletions each in AZFb (sY127) (8.33%) and AZFc (sY254) (8.33%).
Conclusion
Microdeletions in sY134 (AZFb) were significantly associated with RPL in Iranian men ( p = 0.03). AZF microdeletion screening in couples with RPL can provide valuable information for ethnical genetic counseling and management of recurrent miscarriage. Further studies on larger populations or across various ethnic groups, conclusions and the inclusion of other factors like epigenetic changes explain the role of AZF microdeletions in RPL.
... [4][5][6][7][8] Chromosomal abnormalities are the most common causes of genetic defects, and are known as an important cause of reproductive problems, spontaneous abortion, and fetal death. 8 Various chromosomal variants and major chromosomal abnormalities have been found in 1. [3][4][5][6][7][8][9][10][11][12][13][14][15].0% of couples with reproductive problems. 9,10 The prevalence of chromosomal abnormalities in infertile males is 1.1-7.2%, ...
... 11,12 whereas in infertile females, it is 10.0%. 13,14 Structural rearrangements (inversions) and sex chromosomal mosaicism are reported as the most frequent chromosomal abnormalities in individuals with reproductive problems. 15 Moreover, balanced and reciprocal translocations are common structural rearrangements in populations with infertility. ...
... [4][5][6][7][8] Chromosomal abnormalities are the most common causes of genetic defects, and are known as an important cause of reproductive problems, spontaneous abortion, and fetal death. 8 Various chromosomal variants and major chromosomal abnormalities have been found in 1. [3][4][5][6][7][8][9][10][11][12][13][14][15].0% of couples with reproductive problems. 9,10 The prevalence of chromosomal abnormalities in infertile males is 1.1-7.2%, ...
... 11,12 whereas in infertile females, it is 10.0%. 13,14 Structural rearrangements (inversions) and sex chromosomal mosaicism are reported as the most frequent chromosomal abnormalities in individuals with reproductive problems. 15 Moreover, balanced and reciprocal translocations are common structural rearrangements in populations with infertility. ...
Background:
The numerical and structural abnormalities of chromosomes are the most common cause of infertility. Here, we evaluated the prevalence and types of chromosomal abnormalities in Iranian infertile patients.
Methods:
We enrolled 1750 couples of reproductive age with infertility, who referred to infertility clinics in Tehran during 2014- 2019, in order to perform chromosomal analysis. Peripheral blood samples were obtained from all couples and chromosomal abnormalities were evaluated by G-banded metaphase karyotyping. In some cases, the detected abnormalities were confirmed using fluorescence in-situ hybridization (FISH).
Results:
We detected various chromosomal abnormalities in 114/3500 (3.257%) patients with infertility. The prevalence of chromosomal abnormalities was 44/114 (38.596%) among infertile females and 70/114 (61.403%) among infertile males. Structural chromosomal abnormalities were found in 27/1750 infertile females and 35/1750 infertile males. Numerical chromosomal abnormalities were found in 17/1750 of females and 35/1750 of males. The 45, XY, rob (13;14) (p10q10) translocation and Klinefelter syndrome (47, XXY) were the most common structural and numerical chromosomal abnormalities in the Iranian infertile patients, respectively.
Conclusion:
In general, we found a high prevalence of chromosomal abnormalities in Iranian patients with reproductive problems. Our study highlights the importance of cytogenetic studies in infertile patients before starting infertility treatments approaches.
... It is well known that genetic anomalies are an important cause of human infertility [7][8][9]. Cytogenetic analysis can be used to investigate whether underlying chromosomal anomalies may account for bad obstetric outcomes and failure to achieve pregnancy. However, most infertility cases fail to reveal gross abnormalities and rearrangements in karyotype [10]. ...
Background
To assess the association between chromosomal polymorphisms (CPM) with congenital anomalies and perinatal complications in a cohort of newborns from couples undergoing intracytoplasmic sperm injection (ICSI), trophectoderm biopsy, and preimplantation genetic testing for aneuploidy (PGT-A).
Methods
A retrospective cohort of singletons conceived after ICSI, trophectoderm biopsy, and PGT-A cycles performed at IVIRMA clinics in Spain over 4 years was involved in the study. Newborns were classified according to the parental karyotype analysis: Group I: non-carriers, Group II: CPM carriers. Couples with chromosomal anomalies and instances when both partners were CPM carriers were excluded from the study. The groups were compared for several perinatal complications.
Results
There was a significant decrease in the number of NB with complications in the carrier group compared to the non-carriers (19.7% vs 31.9%, p = 0.0406). There were no statistical differences among the two groups regarding congenital anomalies, preterm birth, alterations in birth length and weight, cranial perimeter, Apgar test score, or sex ratio ( p > 0.05).
Conclusions
Chromosomal polymorphisms appear to have no adverse effects on congenital anomalies or perinatal complications on newborns from ICSI + PGT-A cycles.
... This finding agrees with Radojcić et al. [24] and Butnariu et al. [25] who reported that nearly 13% and 16% of infertile patients had chromosomal abnormalities, respectively. On the other hand, other studies reported lower prevalences of chromosomal abnormalities when compared with the current study [26][27][28][29][30]. In our study, the selection bias might explain this relatively high frequency of chromosomal aberrations [31]. ...
... Structural abnormalities of X chromosome were detected in 55/860 (6.39%) infertile females. Our frequency was higher than that reported in several studies [26,32,41] and lower than Kalavathi et al. [43]. Differences in results may be attributed to the variability in the sample size and ethnicity. ...
Background
Chromosomal abnormalities represent an important cause of human infertility. Little is known about the prevalence of chromosomal abnormalities among Egyptian couples with infertility. We estimated the cytogenetic profiles and semen analysis patterns among infertile couples. We analyzed data from medical archives of 2150 patients with infertility in Mansoura University Children’s Hospital, Egypt from 2015 to 2019. The data included karyotypes and semen analysis reports.
Results
Chromosomal abnormalities were reported in 13.5% of infertile patients (290/2150); 150 out of 1290 (11.62%) males and 140 out of 860 (16.28%) females. Within the infertile males, the numerical chromosomal abnormalities were detected in 134/1290 (10.38%) males, and structural abnormalities were found in 16/1290 (1.24%) males. Within the infertile females, numerical sex chromosome abnormalities were detected in 75/860 (8.72%) females, structural sex chromosome abnormalities were found in 31/860 (3.6%) females, mosaicism of the sex chromosome was found in 22/860 (2.56%) females, and male pseudohermaphrodites were detected in 12/860 (1.39%) females.
Conclusions
Numerical chromosomal aberrations are the most frequent patterns among infertile couples. Attention should be paid to the traditional chromosomal analysis as an important diagnostic step in the infertility work-up.
... В общей популяции изменения в кариотипе встречаются с частотой 1,77±0,06% [1]. Частота структурных перестроек в хромосомах у пациентов с НРФ наблюдается в 2,37% случаев [2]. В настоящее время известно о 800 вариантах хромосомных аномалий, связанных с изменением числа хромосом или их структуры. ...
The frequency of structural chromosomal transpositions can range from 1.8 to 8% among patients with reproductive disorders. There are several types of the rarest chromosomal abnormalities: insertion (insertion of a chromosomal region) and inversion (rotation of a chromosome region). This article describes a clinical case of the infertility treatment using assisted reproductive technologies in a woman with a rare chromosomal abnormality: simultaneous insertion and inversion of chromosomes 46, XX, ins (13;4)(q34;p14p15.3), inv(4)(p14q12). The structure and frequency of chromosomal aberrations were determined by high-throughput sequencing in preimplantation embryos. The result of the sequencing analysis showed that unbalanced variants for a known pathology were detected in 9 (56.3%) out of 16 observations, while in 6 (37%) only for a pathology known in the karyotype and in 3 (19%) they were presented simultaneously with the pathology of other chromosomes or with mosaicism. According to the results of the study, in preimplantation embryos, where one of the parents had chromosomal abnormalities, in addition to unbalanced variants, there is aneuploidy of other chromosomes not involved in the known pathology. They are described in 3 (21%) out of 14 observations of all identified pathology. In this regard, patients with aberrations in the karyotype are recommended, whenever possible, to carry out preimplantation genetic testing of structural rearrangements by methods allowed to analyze all chromosomes simultaneously. For example, high-throughput sequencing on the Illumina platform may become an alternative for prenatal diagnostics, which is performed in fertile couples with high risk of having a child with hereditary or congenital disorders. In the case of detection of chromosomal changes in the fetus, patients are faced with a number of ethical issues related to the necessity for medical abortion, which may contradict their religious and moral convictions.
... [3] Previous researches showed that the prevalence of CA among patients with infertility varied from 1.05 to 17%. [4,5] CA could occur in any pregnancy, [6,7] and arise more frequently among women than men. [8] CA can be divided into autosomal abnormalities and sex abnormalities groups, [6] and different subtypes were associated with distinct clinical characteristics depending on the karyotype and the genetic background of the patients. ...
... [12,14] However, so far there has been very limited data regarding the fertility outcomes of CA patients undergoing AID, and important information on the difference between CA and normal karyotype (NK) group in the clinical characteristics and outcomes is lacking. [4,11] The present study aimed to investigate the effects of CA on clinical characteristics, pregnancy outcomes, and access the prognostic factors for pregnancy in women undergoing artificial insemination with donor's sperm. To the best of our knowledge, this is the first study focusing on the effects of chromosomal abnormalities on pregnancy outcomes in female undergoing artificial insemination with donor's sperm. ...
This study aimed to evaluate the clinical characteristics, pregnancy outcomes and prognostic factors for pregnancy of female with chromosomal abnormalities (CAs) after artificial insemination with donor's sperm (AID) treatment.
A retrospective case–control study was analyzed by using the data of 29 female patients with CA and 116 controlled patients with normal karyotype (1:4 ratio) who underwent AID cycles at Guangdong Family Planning Special Hospital from January 2011 to December 2017. In all cases, reproductive histories were collected, and the cytogenetic analysis was performed by Trypsin-Giemsa banding and karyotyping. The embryos were fertilized via intracervical or intrauterine insemination. Clinical characteristic variables were compared.
The prevalence of CA was found to be 0.29% in the whole AID population. The live birth rates of CA group and controlled group were 41.4% and 31.0% (P = .29) respectively. Compared to normal karyotype group, patients with CA showed higher rate of primary infertility (93.1% vs 75.9%, P = .049); Multivariate analysis demonstrated that ovarian stimulation (odds ratio, 3.055; 95% confidence interval, 1.421–6.568; P = .004) was associated with adverse pregnancy outcomes in female patients with AID treatment.
For the infertility CA patients who were phenotypically normal, AID was a suitable choice, whereas ovarian stimulation results in an improvement in the pregnancy rate.
... A distribution of the main chromosomal abnormalities observed according to the age groups of the patients is shown in Figure 2. The histogram shows that the age group between [10][11][12][13][14][15][16][17][18][19][20] is the one with the highest number of diagnosed cases (51/185), followed by the age group [21][22][23][24][25][26][27][28][29][30][31] (36/185). Turner's syndrome is diagnosed mainly between [10][11][12][13][14][15][16][17][18][19][20] (30/57). ...
Chromosomal abnormalities are the main genetic risk factor associated with reproductive and sexual development disorders (DSD). The goal of this study is to retrospectively evaluate the frequency of chromosomal aberrations in Moroccan subjects with problems of procreation or sexual ambiguity. A total of 1005 individuals, including 170 infertile couples, underwent cytogenetic analysis in the Cytogenetic Laboratory of the Pasteur Institute of Morocco. Heparinized blood samples were processed according to the standard karyotype method. A total (81.5%) of the patients studied had a normal karyotype, while the remaining (18.5%) patients had an abnormal karyotype. Female patients had more chromosomal abnormalities (52%) than male patients (48%). These chromosomal aberrations included 154 cases (83%) of sex chromosomal abnormalities, the most common being Turner’s syndrome and Klinefelter’s syndrome, and 31 cases (17%) had autosomal aberrations, especially chromosome 9 reversal (inv(9)(p12;q13)). The present data shows that among 170 couples, 10.6% had chromosomal abnormalities mainly involved in the occurrence of recurrent miscarriages. Genotype-phenotype correlations could not be made, and therefore, studies using more resolutive molecular biology techniques would be desirable.
... In terms of consulting couples concerned with infertility, genetic consultations and the determination of the karyotype should be one of the stages of the investigation, and the data we have received confirm the need for genetic testing. Furthermore, the determination of the parental karyotype for infertile couples is also recommended in cases where assisted fertilization techniques such as in vitro fertilization are opted for [30]. Even though the determination of a karyotype may not seem desirable in couples with children since the presence of children already shows the ability of a couple to have offspring, our study found that even in the group of couples with children and with two or more miscarriages, the chromosomal aberration rate was 16.1%, which was twice as frequent as for the group of childless couples with two or more miscarriages (8.2%). ...
Background and objectives: Reproductive disorders may occur not only due to environmental factors (air pollution, stressful lifestyle, previous abortions or the use of contraceptives) but also due to genetic factors. Materials and Methods: The aim of the study was to identify the range and frequency of chromosomal aberrations in couples (n = 99) with infertility or recurrent miscarriages in Lithuania. The data were collected from the out-patient medical histories. The couples were divided into three groups based on pregnancy, childbirth and the number of miscarriages. The Chi-square test was used to carry out the statistical analysis, and the statistical significance was (p < 0.05). Results: There were 6.6% (n = 13) structural changes observed in the karyotype tests. Chromosomal aberrations were found in 3% (n = 6) of the subjects, while 3.6% (n = 7) of them had chromosomal length polymorphisms. No difference was found between the aberration frequency in the karyotypes of men and women (p > 0.05). The most common aberrations were balanced translocations (23.1%, n = 3) which accounted for 15.4% of the reciprocal (n = 2) and 7.7% of the Robertsonian type (n = 1) of translocations. The most frequent aberrations were found in couples with the inability to conceive (42.9% (n = 3), p = 0.031). The childless couples and those with recurrent miscarriages showed an aberration rate of 8.2% (n = 5), while in the couples with at least one child it was 16.1% (n = 5). The group of couples unable to conceive had a significantly higher aberration rate of 28.6% (n = 2), p = 0.029. Miscarriages in partners’ families accounted for 8.1%. Miscarriages on the female side of the family accounted for 4.5% (n = 9), on the male side it accounted for 2.5% (n = 5) and on both sides it accounted for 1.1% (n = 2). There were no statistically significant differences observed between the female and male sides (p > 0.05). The miscarriages observed in the second group of couples (childless with ≥2 miscarriages) were more frequent at 18.1% (n = 11), in the third group (having children ≥2 miscarriages) they were less frequent at 12.9% (n = 4), while no miscarriages were recorded in the first group of infertile couples. In total, 3% of the identified significant chromosomal aberrations were likely to trigger miscarriages or the inability to conceive. Conclusions: In couples with reproductive disorders, chromosomal mutations and chromosomal length polymorphisms were found at similar rates: 3% vs. 3.6%. The highest aberration rate was found in couples that were unable to conceive, a lower one was found in a group with children and ≥2 miscarriages, and the lowest one was found in a childless group of subjects with ≥2 miscarriages. The miscarriage rate in partner families was 8.1%; however, no difference was found between the male and female sides.
... Whole chromosomal aberrations The prevalence of chromosomal alterations varies from 1.05 to 17% (this gap depends on the characteristics of the studied group) but is 0.84% in newborns [109]. Structural chromosomal rearrangements are more common with respect to numerical abnormalities; this does not apply to sex chromosomes whose abnormalities, accounting for approximately 4.2% of all whole chromosomal aberrations, are represented by sex chromosome aneuploidies in 84% of cases and by structural rearrangements of chromosome Y in the remaining 16% of cases. ...
Infertility is considered a major public health issue, and approximately 1 out of 6 people worldwide suffer from infertility during their reproductive lifespans. Thanks to technological advances, genetic tests are becoming increasingly relevant in reproductive medicine. More genetic tests are required to identify the cause of male and/or female infertility, identify carriers of inherited diseases and plan antenatal testing. Furthermore, genetic tests provide direction toward the most appropriate assisted reproductive techniques. Nevertheless, the use of molecular analysis in this field is still fragmented and cumbersome. The aim of this review is to highlight the conditions in which a genetic evaluation (counselling and testing) plays a role in improving the reproductive outcomes of infertile couples. We conducted a review of the literature, and starting from the observation of specific signs and symptoms, we describe the available molecular tests. To conceive a child, both partners' reproductive systems need to function in a precisely choreographed manner. Hence to treat infertility, it is key to assess both partners. Our results highlight the increasing importance of molecular testing in reproductive medicine.
