Chromosomal abnormalities of 19,000 couples with recurrent spontaneous abortions: a multicenter study

Park, Seojin; Min, Ji-You; Kang, Jeom-Soon; Yang, Byung-Guk; Hwang, Sun‐Tak; Han, Sung‐Hee

doi:10.1016/j.fertnstert.2022.01.011

Cited by 18 publications

(11 citation statements)

References 41 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Chromosomal numerical anomaly is the most common genetic cause of spontaneous miscarriages [33]. Here, 615 cases (81.6%, 615/754) had numerical abnormalities, which is consistent with results from a recent report [34], including 531 cases (45.8%) of single chromosome aneuploidy and 31 (2.7%) cases of multiple aneuploidies (Table 2).…”

Section: The Associations Between Chromosomal Abnormalities Of Cvss A...supporting

confidence: 91%

Chromosomal copy-number variation analysis of villous tissues using molecular karyotyping in early missed abortions

Xue

Guo

et al. 2022

Preprint

View full text Add to dashboard Cite

Karyotype abnormalities are the most common etiology of early spontaneous miscarriage. However, traditional karyotyping of chorionic villus samples (CVSs) is limited by cell culture and its low resolution. The objective of our study was to investigate the efficiency of molecular karyotyping technology in detecting the CNVs of early missed abortion tissues. Chromosome analysis of 1160 abortion CVSs in early pregnancy, collected by hysterosuction, was conducted in Fujian, China, with informed consent secured from the participants; 449 chromosomal CNV analyses were conducted via CNV-seq and 711 analyses were conducted using microarray. Clinically submicroscopic CNVs of abortion villous tissues were identified to clarify the cause of the abortion and to guide the participants’ subsequent pregnancies. Among the 1160 samples, 754 cases (65.0%) with genetic abnormalities were identified, of which, 531 (45.8%) were single aneuploidies, 31 (2.7%) were multiple aneuploidies, 50 (4.3%) were polyploidies, 53 (4.6%) were partial aneuploidies, 78 (6.7%) had a microdeletion or microduplication, and 8 cases (0.7%) were uniparental disomies. However, compared with the young maternal age group, the embryotic numerical and structural chromosomal rate was significantly different in the advanced maternal age group, while there was no significant positive correlation between maternal age and other types of genetic abnormalities. A higher detection rate of embryotic chromosomal abnormalities, especially submicroscopic CNVs, was achieved using CNV-seq and microarray. Our results indicate that embryonic CNVs cause early miscarriage and highlight the importance of CNV analysis in CVSs, irrespective of maternal age.

show abstract

Section: The Associations Between Chromosomal Abnormalities Of Cvss A...supporting

confidence: 91%

Chromosomal copy-number variation analysis of villous tissues using molecular karyotyping in early missed abortions

Xue

Guo

et al. 2022

Preprint

View full text Add to dashboard Cite

show abstract

“…A much rarer chromosomal abnormality is the 46,XX karyotype with male phenotype or structural Y aberration [ 6 ]. In women, the most common form of infertility is caused by numerical chromosome abnormality, where the loss of one sex chromosome results in Turner syndrome (45,X) that also has mosaic forms (e.g., 45,X/46,XX) [ 6 , 8 ]. Additionally, 47,XXX karyotype with 45,X mosaicism or 46,XY gonadal dysgenesis are causative alterations in female infertility [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

Cytogenetic Investigation of Infertile Patients in Hungary: A 10-Year Retrospective Study

Andó

Koczok

Bessenyei

et al. 2022

Genes

View full text Add to dashboard Cite

Chromosome abnormalities play a crucial role in reproductive failure. The presence of numerical or structural aberrations may induce recurrent pregnancy loss or primary infertility. The main purpose of our study was to determine the types and frequency of chromosomal aberrations in infertile patients and to compare the frequency of structural aberrations to a control group. Karyotyping was performed in 1489 men and 780 women diagnosed with reproductive failure between 2010 and 2020. The control group included 869 male and 1160 female patients having cytogenetic evaluations for reasons other than infertility. Sex chromosomal aberrations were detected in 33/1489 (2.22%) infertile men and 3/780 (0.38%) infertile women. Structural abnormalities (e.g., translocation, inversion) were observed in 89/1489 (5.98%) infertile men and 58/780 (7.44%) infertile women. The control population showed structural chromosomal abnormalities in 27/869 (3.11%) men and 39/1160 (3.36%) women. There were significant differences in the prevalence of single-cell translocations between infertile individuals (males: 3.5%; females: 3.46%) and control patients (males: 0.46%; females: 0.7%). In summary, this is the first report of cytogenetic alterations in infertile patients in Hungary. The types of chromosomal abnormalities were comparable to previously published data. The prevalence of less-studied single-cell translocations was significantly higher in infertile patients than in the control population, supporting an earlier suggestion that these aberrations may be causally related to infertility.

show abstract

“…[ 5 ] In clinical practice, male RCT carriers may show azoospermia, oligozoospermia, asthenozoospermia, or teratozoospermia, or their partners may increase the risk of recurrent spontaneous abortion. [ 6 , 7 ] In addition, there are also RCT carriers who have a normal birth without any abnormal clinical manifestations. Therefore, the incidence of reciprocal translocation is often underestimated.…”

Section: Introductionmentioning

confidence: 99%

Fertility problems in men carrying a translocation involved in breakpoints on chromosome 17p13: A retrospective, observational study

2022

Medicine

View full text Add to dashboard Cite

Male infertility is a multifactorial reproductive disorder. The effect of genetic factors on male infertility has been the focus of research. Although a variety of genetic techniques are applied to male infertility in clinical practice, karyotype analysis remains a powerful and inexpensive technology. Reciprocal chromosomal translocation (RCT) is closely related to male infertility, but the clinical phenotypes of RCT carriers are varied, and the underlying pathological mechanism is unclear. Some studies suggest that RCT breakpoints disrupt the structure and function of important genes responsible for spermatogenesis. Several breakpoints of chromosome 17 are related to important genes, which can lead to spermatogenic failure. This study aimed to identify the clinical features of 3 men with translocation karyotypes involving breakpoints on chromosome 17p13. Semen analysis and cytogenetic analysis were performed with informed consent. Gene ontology analysis was performed for 60 pathogenic genes on chromosome band 17p13. Cytogenetic analysis showed that the karyotypes were 46, XY, t(6;17) (p21;p13), 46,XY,t(10;17)(q11.2;p13), and 46, XY, t(17;20) (p13;q13), respectively. Relevant studies and genes on breakpoints on chromosome 17p13 were searched for using PubMed. Fourteen reported cases of the same karyotype were reviewed. The results suggest that although chromosome 17 is closely related to spermatogenic failure, the clinical phenotypes of RCT carriers with involvement of 17p13 breakpoints are varied. The important genes involved in the breakpoint were analyzed. The results of molecular functions suggested that these targets genes on chromosome band 17p13 were mostly involved in microfilament motor activity, ATPase activity. These results suggested that the translocation chromosome and breakpoint analysis should be considered in the clinical assessment of the patients. Physicians should be aware of these in genetic counseling. These breakpoints and the function of related genes require further study.

show abstract

Chromosomal abnormalities of 19,000 couples with recurrent spontaneous abortions: a multicenter study

Cited by 18 publications

References 41 publications

Chromosomal copy-number variation analysis of villous tissues using molecular karyotyping in early missed abortions

Chromosomal copy-number variation analysis of villous tissues using molecular karyotyping in early missed abortions

Cytogenetic Investigation of Infertile Patients in Hungary: A 10-Year Retrospective Study

Fertility problems in men carrying a translocation involved in breakpoints on chromosome 17p13: A retrospective, observational study

Contact Info

Product

Resources

About