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Fluorescence in situ hybridization (FISH) using residual pellet after conventional karyotyping. (A) XY FISH showing 9% of cells with Y chromosomes (red). (B) BCR-ABL1 FISH indicating 10% of
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IntroductionThe single most common cause of miscarriage is genetic abnormality.Objective
We conducted a prospective cohort study to compare the performance of conventional karyotyping and chromosomal microarray analysis (CMA) using array comparative genomic hybridization (array-CGH) and single nucleotide polymorphism array (SNP-array) to identify g...
Contexts in source publication
Context 1
... residual pellets after conventional karyotyping. Case 49 showed XY and trisomy 22 based on CMAs, whereas the results of conventional karyotyping were not consistent with those of normal females. FISH using probes specific for X and Y chromosomes were used to identify the Y chromosome, and 9% of cells were positive for Y chromosomes (red signals) (Fig. 3a). Thus, we revealed that the sex of the CV was male and the conventional karyotyping result was derived from maternal cells. Case 50 showed trisomy 22 based on CMA, but this was not detected with conventional karyotyping. Three copies of chromosome 22 (green signals) were observed in 10% of cells using FISH analysis (Fig. 3b), ...
Context 2
... (red signals) (Fig. 3a). Thus, we revealed that the sex of the CV was male and the conventional karyotyping result was derived from maternal cells. Case 50 showed trisomy 22 based on CMA, but this was not detected with conventional karyotyping. Three copies of chromosome 22 (green signals) were observed in 10% of cells using FISH analysis (Fig. 3b), suggesting possible sampling error (accidental overcrowding of specific cell population), tissue mosaicism (more than one type of cell population), or culture artifact (domination of viable cell population). In cases 53 and 54, low-level mosaic trisomy (15% [3/20] metaphases) was detected via conventional karyotyping but not via CMA ...
Context 3
... 46,XX, suggesting culture artifact because of more viable maternal cells. One interesting case of multiple aneuploidy (case 63 with trisomies 7, 18, and 20) was identified by both CMAs, whereas conventional karyotyping recognized only trisomy 18. Additional FISH revealed three and four copies of chromosome 20 in 12 and 15% of cells, respectively (Fig. 3c), supporting the CMA findings (Fig. ...
Citations
... Chromosomal abnormalities in couples directly affect the foetal chromosomes, but even couples with normal chromosomes can miscarry due to the foetal chromosomal abnormalities [19]. There are many karyotypes including foetal chromosomal abnormalities, among which aneuploidy and polyploidy are common [20]. The age is a significant contributor to anomalies in foetal chromosomes [2,6]. ...
... The autosomal and X chromosomes were positively associated with the age, but the X single chromosome and polyploidy were negatively related to the age [40]. Korean research discovered a high prevalence of trisomy 22 but did not examine the association between age and chromosomal abnormalities [20]. Most previous studies reported foetal tissue chromosomal abnormalities, focusing on the overall distribution of the number of abnormal karyotypes in 23 pairs of chromosomes. ...
Background
Abnormal foetal tissue chromosome karyotypes are one of the important pathogenic factors for spontaneous abortion (SA). To investigate the age and abnormal foetal karyotypes of 1903 couples who experienced SA.
Methods
A retrospective multicentre study collected age and foetal tissue karyotypes CNV-seq data of 1903 SA couples from 6 hospitals in 5 regions from January 2017 to March 2022. The distribution and correlation of abnormal foetal tissue karyotypes were evaluated by using regions and age.
Results
In our study, 1140 couples (60.5% of the total) had abnormal foetal tissue chromosome karyotypes in all regions. We found that there were differences in the number of abnormal foetal tissue chromosome karyotypes, of which the incidence of trisomy was higher. At the same time, the populations situated in the eastern region had a more triploid (15.5%) distribution, trisomy (58.1%) in the southern region, mosaicism (14.8%) and microduplication (31.7%) in the southwestern region, microdeletion (16.7%) in the northern region. There are variances across areas, and it is more common in the north. The incidence risk of prenatal chromosomal abnormalities varied according to age group.
Conclusion
The findings of this study suggest that the karyotypes of patients with abnormal foetal tissue chromosome abortion in different regions were different. Meanwhile, patients ≥ 35 years old had a higher risk of abnormal foetal tissue chromosome abortion.
... In this study, certain rates of polyploidy (16.1%), multiple aneuploidy (9.7%) and monosomy X (3.2%) were present. The rate of genetic abnormalities was also high in this research (49.2%) [31]. Similarly, Gug et al. found autosomal trisomies as the most common chromosomal abnormality in miscarriages (56.4%). ...
Objectives
Chromosomal abnormalities are an important cause of especially early miscarriages. The aim of this study was to analyze the chromosomal aberrations and determine the frequencies of numerical and structural chromosome abnormalities in spontaneous abortion materials.
Methods
This was a prospective research and ninety two abortion samples obtained from women who had one or more miscarriages were included in the study. Conventional karyotype analysis was performed on each sample to identify possible chromosomal abnormalities.
Results
By karyotype analysis, 11 polyploidy cases, (9 triploids and 2 tetraploids), 8 trisomies (one of which was mosaic), 2 monosomies (monosomy X), 1 isochromosome, 1 Xq deletion, and 4 translocations were detected in abortion materials. Isochromosome and Xq deletion cases were also mosaic. In addition, five polymorphic variants were revealed. We found higher paternal age in polyploidy cases.
Conclusion
The most common anomaly we found in abortion materials was polyploidy. This was followed by aneuploidy (trisomy and monosomy). Polyploidy (triploidy or tetraploidy) emerged as an important cause in cases of spontaneous abortion. Paternal age may be associated with polyploidy especially triploidy.
... In the general population, it has been estimated that about 50% of miscarriages occurring before 10 weeks of gestation are due to chromosomal abnormalities. Trisomies are the most frequently detected abnormalities, followed by triploidies, monosomy X, tetraploidies, and structural chromosome anomalies [1][2][3][4]. Chromosome abnormality also plays a relevant role in the pathophysiology of recurrent pregnancy loss (RPL) [5][6][7]. The probability of carrying a chromosome abnormality in couples with two or more miscarriages is significantly higher than in the general reproductive age population and varies between 3.2% and 5.8% [8]. ...
... Conventional karyotyping has been the most used genetic test for the genetic analysis of pregnancy tissue for over 30 years [19]. However, its several limitations (i.e., high rates of culture failure and bacterial and maternal cell contamination, high costs, waiting time for results, laboratory workload, etc.) have prompted the introduction of alternative techniques [3,10,11,[20][21][22]. ...
... Currently, array comparative genomic hybridization (array-CGH) and single nucleotide polymorphism array (SNP-array) are considered the most reliable tests and are recommended by the most authoritative guidelines on this issue [3,11,[23][24][25][26][27][28]. Nevertheless, chromosomal microarray analysis (CMA) also has some relevant weaknesses including the inability to detect balanced chromosomal rearrangements and low-level mosaicism. ...
(1) Background: The aim of our study is to evaluate whether cell-free DNA testing can overlap the genetic testing of miscarriage tissue in women with early pregnancy loss (EPL) and length of recurrent pregnancy loss (RPL); (2) Methods: We conducted a prospective cohort study at the Pregnancy Loss Unit of the Fondazione Policlinico Universitario A. Gemelli (IRCCS), Rome, Italy between May 2021 and March 2022. We included women with EPL and length of RPL. Gestational age was >9 weeks + 2 days and 25 and
... In spite of this, due to the anxiety of couples suffering from miscarriage, SM couples were also eager for embryonic genetic testing to uncover the cause of pregnancy loss and some SM couples underwent embryonic CMA testing in clinical practice. Furthermore, the importance of CMA testing of POCs after the first miscarriage has also been highlighted by several studies [7,8]. Therefore, genetic evaluation of POCs is equally necessary for SM couples. ...
Objectives
Chromosomal microarray analysis (CMA) has been widely applied to genetic diagnosis in miscarriages in clinical practice. However, the prognostic value of CMA testing of products of conception (POCs) after the first clinical miscarriage remains unknown. The aim of this study was to evaluate the reproductive outcomes after embryonic genetic testing by CMA in SM couples.
Methods
In this retrospective study, a total of 1142 SM couples referred for embryonic genetic testing by CMA, and 1022 couples were successfully followed up after CMA.
Results
Among 1130 cases without significant maternal cell contamination, pathogenic chromosomal abnormalities were detected in 680 cases (60.2%). The subsequent live birth rate did not differ significantly between couples with chromosomally abnormal and normal miscarriage (88.6% vs. 91.1%, p = .240), as well as the cumulative live birth rate (94.5% vs. 96.7%, p = .131). Couples with partial aneuploid miscarriage had a higher likelihood of spontaneous abortion both in the subsequent pregnancy (19.0% vs. 6.5%, p = .037) and cumulative pregnancies (19.0% vs. 6.8%, p = .044) when compared with couples with chromosomally normal miscarriage.
Conclusions
SM couples with chromosomally abnormal miscarriage manifested with a similar reproductive prognosis to couples with chromosomally normal miscarriage.
Key messages
CMA testing of POCs could provide an accurate genetic diagnosis for couples with SM.
The live birth rate of couples with partial aneuploid miscarriage was as high as couples with chromosomally normal miscarriage, despite a higher risk of adverse pregnancy event.
Among couples with the most common single aneuploid miscarriage, the cumulative live birth rates of couples with trisomy 16, sex chromosomal abnormalities and trisomy 22 were 94.1%, 95.8% and 84.0%, respectively.
Tests to identify chromosomal abnormalities in embryos and in early pregnancies are frequently used to make important decisions, including terminations, but many rely on outdated science. Regulation of these genetic tests is urgently needed to ensure transparency and validation.
