Lower chromosomal abnormality frequencies in miscarried conceptuses from frozen blastocyst transfers in ART

2020 ◽  
Author(s):  
Jing Li ◽  
Fuli Zhang ◽  
Bo Sun ◽  
Shanjun Dai ◽  
Qingling Yang ◽  
...  
Keyword(s):  
Chromosomal Aberrations ◽  
Chromosomal Abnormality ◽  
Lower Incidence ◽  
Chromosomal Abnormalities ◽  
Blastocyst Transfer ◽  
Embryo Cryopreservation ◽  
Technology Research ◽  
Cleavage Stage ◽  
Blastocyst Culture ◽  
Research Project

Abstract STUDY QUESTION Are blastocyst culture and cryopreservation in ART associated with chromosomal abnormalities in miscarried products of conception (POC)? SUMMARY ANSWER Frozen blastocyst transfer in women aged 35 years or older and frozen embryo transfer (ET) (including both cleavage-stage embryo and blastocyst) in women aged <35 years are associated with decreased frequencies of embryonic chromosomal abnormalities in miscarried POC. WHAT IS KNOWN ALREADY Blastocyst culture and embryo cryopreservation have been previously associated with favorable ART treatment outcomes and widely applied in clinical practice. However, the association between these embryo manipulation procedures and embryonic chromosomal abnormalities has not been evaluated to the best of our knowledge. STUDY DESIGN, SIZE, DURATION This retrospective study included a total of 720 patients who underwent IVF/ICSI, and the retained POC were obtained. A single-nucleotide polymorphism (SNP)-based chromosomal microarray analysis (CMA) of all miscarried conceptuses was performed. PARTICIPANTS/MATERIALS, SETTING, METHODS This study was based on the Clinical Reproductive Medicine Management System/Electronic Medical Record Cohort Database (CCRM/EMRCD) at our center. In total, 720 miscarried POCs were collected from patients undergoing ART (including fresh cleavage-stage ET, fresh blastocyst transfer, frozen cleavage-stage ET and frozen blastocyst transfer), and the incidences and profiles of cytogenetic abnormalities in the miscarried conceptuses were measured via SNP-based CMA. MAIN RESULTS AND THE ROLE OF CHANCE The chromosomal abnormality rate in POC varied from 33.7% to 66.7% among the different ET strategies. In the patients aged ≥35 years, frozen blastocyst transfer was significantly associated with a lower incidence of chromosomal aberrations in the POCs (adjusted odds ratio (aOR): 0.171 (95% CI: 0.040–0.738); P = 0.018) than fresh blastocyst transfer. In the patients aged <35 years, frozen ET was significantly associated with a lower incidence of chromosomal aberrations than fresh ET in both cleavage-stage ET cycles and blastocyst transfers cycles (aOR: 0.545 (0.338–0.879), P = 0.013; and aOR: 0.357 (0.175–0.730), P = 0.005, respectively). Trisomy was the most frequent abnormal embryonic karyotype in the different ET strategies, and its frequency significantly differed among strategies (P < 0.05). LIMITATIONS, REASONS FOR CAUTION This study was retrospectively designed, and we cannot draw any definite conclusions from our results regarding the adequate safety of embryo cryopreservation in ongoing pregnancy. WIDER IMPLICATIONS OF THE FINDINGS To our knowledge, this is the first study assessing the associations of ET strategies with the probability of miscarriage associated with embryonic chromosomal abnormalities. However, the underlying mechanism of these associations is unknown; this study may promote research concerning ET strategies and promote comprehensive consultations and recommendations for patients. STUDY FUNDING/COMPETING INTEREST(S) This work was supported by the Natural Science Foundation of China (Grant No.81571409), Science and Technology Research Project of Henan (Grant No. 172102310009) and Medical Science and Technology Research Project of Henan (Grant No. 201701005). The authors declare no competing interests. TRIAL REGISTRATION NUMBER N/A

scholarly journals Chromosomal Abnormalities in Multiple Myeloma

Blood ◽  
1967 ◽  
Vol 30 (6) ◽  
pp. 738-748 ◽  
Author(s):  
K. C. DAS ◽  
B. K. AIKAT
Keyword(s):  
Multiple Myeloma ◽  
Bone Marrow ◽  
Chromosomal Aberrations ◽  
Chromosomal Abnormality ◽  
Chromosomal Abnormalities ◽  
Acute Leukemias ◽  
Leukocyte Culture ◽  
Peripheral Leukocyte ◽  
Direct Preparation ◽  
Chromosomal Changes

Abstract Chromosome studies were carried out in five cases of multiple myeloma by peripheral leukocyte culture and direct preparation from bonemarrow cells. No chromosomal abnormality was detected by leukocyte culture in any of these cases. Analysis of bone marrow metaphase plates revealed abnormalities in four out of five cases. Chromosomal changes were characterized by their variability from case to case, as well as among different groups of cells in individual cases. Both numerical and structural anomalies were encountered. The chromosome series more frequently involved were C, A, G and B in decreasing order. The diverse chromosomal aberrations encountered in these four cases of multiple myeloma are reminiscent of those described in acute leukemias.

scholarly journals Chromosomal analysis of Breeding bulls using lymphocyte culture

2012 ◽  
Vol 29 (1) ◽  
pp. 17-21 ◽  
Author(s):  
D J Patel ◽  
A J Patel ◽  
R K Patel ◽  
P R Parekh
Keyword(s):  
Chromosomal Aberrations ◽  
Chromosomal Abnormality ◽  
Water Buffalo ◽  
Chromosomal Abnormalities ◽  
Fragile Site ◽  
Lymphocyte Culture ◽  
Blood Samples ◽  
Regular Screening ◽  
Holstein Friesian ◽  
Consistent Feature

Chromosomal aberrations or abnormal karyotypes could be one reason for reproductive failure in breeding bulls. The objective of the study was to detect chromosomal abnormalities and their relation with fertility problem in cattle and water   buffalo breeding bulls. Blood samples were collected from 30 buffalo bulls and 23 Holstein or Holstein-Friesian cross bred bulls for lymphocyte culture. No gross chromosomal abnormality was detected. However, a few samples exhibited polyploidy, premature centromeric division, chromosomal fragmentation, aneuploid cells, fragile site, chromatid gaps or breaks. These aberrations were not consistent feature in a particular animal; therefore, the aberrations may not have obvious effects on fertility. However, such   aberrations should be scored in regular screening as a high percentage of such abnormalities can be associated with reduced fertility. DOI: http://dx.doi.org/10.3329/bvet.v29i1.11885 Bangl. vet. 2012. Vol. 29, No. 1, 17-21 

scholarly journals Chromosomal abnormalities in recurrent miscarriages by conventional karyotyping analysis

2018 ◽  
Vol 18 (2) ◽  
pp. 265-276 ◽  
Author(s):  
Alessandra Bernadete Trovó de Marqui
Keyword(s):  
Genetic Counseling ◽  
Chromosomal Abnormality ◽  
Pregnancy Loss ◽  
Chromosomal Abnormalities ◽  
Recurrent Miscarriage ◽  
Virtual Library ◽  
Reciprocal Translocations ◽  
Recurrent Miscarriages ◽  
Monosomy X ◽  
Products Of Conception

Abstract Objectives: to describe the prevalence and types of chromosomal abnormalities in couples with recurrent miscarriage and products of conception. Methods: electronic searches were performed in the PubMed/Medline database and in the Portal Regional da Biblioteca Virtual em Saúde/BVS (Regional Website of the Virtual Library in Health/BVS) using the descriptors “chromosomal abnormalities and abortions and prevalence”. After applying the inclusion and exclusion criterias, 17 studies were selected. Results: 11 studies were conducted in couples with recurrent miscarriage and six in products of conception. The main results of the couples with recurrent miscarriage were: the frequency of chromosomal abnormalities which varied from 1.23% to 12% and there was a predominance alteration of the chromosomal structures (reciprocal translocations, followed by Robertsonian). In products of conception, the results observed were: the frequency of chromosomal abnormality was above 50% in approximately 70% of the studies; there was a predominance alteration of the numerical chromosomal (trisomy - chromosomes 16, 18, 21 and 22, followed by polyploidy and monosomy X). Conclusions: in summary, cytogenetic alterations represent an importante cause of pregnancy loss and its detection can help couples with genetic counseling. Therefore, the value of knowledge on the prevalence of cytogenetic abnormalities in miscarriage samples is unquestionable, once it is permitted a proper genetic counseling for the couple.

scholarly journals The possible significance of trisomy 8 in acute myeloid leukemia

2017 ◽  
Vol 5 (6) ◽  
pp. 2652 ◽  
Author(s):  
Salil N. Vaniawala ◽  
Monika V. Patel ◽  
Pratik D. Chavda ◽  
Shivangi H. Zaveri ◽  
Pankaj K. Gadhia
Keyword(s):  
Acute Myeloid Leukemia ◽  
Chromosomal Aberrations ◽  
Myeloid Leukemia ◽  
Chromosomal Abnormalities ◽  
Prognostic Significance ◽  
Chromosomal Translocation ◽  
Banding Technique ◽  
Trisomy 8 ◽  
Increased Risk ◽  
Acute Myeloid

Background: Acute myeloid leukemia (AML) is a heterogeneous disorder that results from a block in the differentiation of haematopoietic progenitor cells along with uncontrolled proliferation. Trisomy 8 is the most common recurring numerical chromosomal aberrations in acute myeloid leukemia (AML). It occurs either as a sole anomaly or together with other additional chromosomal aberrations. The prognostic significance of trisomy 8 in presence of other additional chromosomal abnormality depends on clonal cytogenetic changes. The patients with trisomy 8 had shorter survival with significantly increased risk with other chromosomal abnormality.Methods: Total 139 patients were screened between January 2016 to November 2016 who were suspected of AML cases. Bone marrow cultures were set up using conventional cytogenetic methods. Chromosomal preparation was made and subjected to GTG banding technique. Banded metaphases were analysed and karyotyped for further analysis.Results: Cytogenetic evaluation of karyotyped of 139 suspected AML patients showed 52 with t(8;21)(q22;q22), 36 with t(15;17)(q22;q12), and 11 with inv(16)(p13;q22). The rest 40 cases found with additional chromosomal abnormalities, of which 16 were sole trisomy 8 and 24 cases were found with other chromosomal abnormalities In addition, only one person found with t(8;21) and trisomy 8, while  three person having t(15;17) with trisomy 8.Conclusions: AML is considered to be one of the most important cytogenetic prognostic determinants. Recurrent chromosomal translocation with trisomy 8 varying 1.9% for t(8;21) and 8.3% for t(15;17). In the present study trisomy 8 in AML with known favourable anomalies is very small. Therefore, it cannot be taken as a prognostic marker.

scholarly journals Sonography Markers of Chromosomal Abnormality in Second Trimester

2010 ◽  
Vol 4 (4) ◽  
pp. 337-347
Author(s):  
Jayprakash Shah
Keyword(s):  
Diagnostic Tool ◽  
Chromosomal Abnormality ◽  
Biochemical Markers ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Invasive Procedure ◽  
Prenatal Period ◽  
Second Trimester ◽  
Good Tool

ABSTRACT Maternal age is increasing in today's world of professional carrier of women. As we know with aging of ova chromosomal abnormalities in fetus are rising. Karyotype is the final diagnostic tool for the confirmation, but it is associated with risk of abortion with the invasive procedure required for it. Sonography markers can be a good tool along with biochemical markers to reduce this risk with better pick rate of chromosomal abnormalities during prenatal period.

scholarly journals Genetic causes of reproductive problems in the Bosnian women population

2018 ◽  
Vol 9 (5) ◽  
pp. 12-16
Author(s):  
Mirela Mackic-Djurovic ◽  
Dunja Rukavina ◽  
Lejla Ahmetas
Keyword(s):  
Chromosomal Aberrations ◽  
Genetic Factors ◽  
Chromosomal Abnormalities ◽  
Population Sample ◽  
Medical Sciences ◽  
Abnormal Karyotype ◽  
Female Population ◽  
Reproductive Disorder ◽  
The Difference ◽  
Bosnian Women

Background: The causes of infertility and recurrent spontaneous abortions are diverse and numerous – including non-genetic and genetic factors – whereby the importance of genetic factors in pathogenesis of infertility is becoming more and more common. Chromosomal abnormalities and genetic defects can cause reproduction failures, and for this reason genetic analysis can play an important role in reproductive problems research.Aims and Objective: This study aims to determine the type and frequency of chromosomalaberrations in the female population sample, as well as to determine if the difference between groups with and without chromosomal aberrations was statistically significant.Materials and Methods: One hundred women aged 15-46 were included in the study, allhaving different reproductive disorder diagnoses and requiring karyotype analysis in the Sarajevo Medical Faculty Genetic Center. Cytogenetic analysis was performed on the peripheral blood, which was cultured for four days, using GTG banding forchromosomalanalysis.Results: Out of 100 women included in the study, an abnormal karyotype was found in 16 of them (16%). The difference between the frequency of normal and abnormal karyotype in women with reproductive problems identified in this study was found to be statistically significant. The pattern of chromosomal aberrations was similar to that reported in the previous cytogenetic studies with similar inclusion criteria.Conclusion: This fact should be taken in the consideration in order to estimate true etiology of reproductive problems and it is a valuable information in the process of genetic counseling and decision making in assisted reproductive technology.Asian Journal of Medical Sciences Vol.9(5) 2018 12-16

Chromosomal Aberrations in a Patient with Severe Psychopathology

1992 ◽  
Vol 161 (4) ◽  
pp. 551-555
Author(s):  
Gunnar Akner ◽  
Karl-Henrik Gustavson ◽  
Eva Håkansson ◽  
Jan Sääf ◽  
Hans Kiessling ◽  
...  
Keyword(s):  
Female Patient ◽  
Chromosomal Aberrations ◽  
Chromosomal Abnormalities ◽  
Severe Psychopathology ◽  
Plasma Factors

The case of a female patient showing aggressive, compulsive, destructive behaviour, ritualistic faecal smearing, and hyperactivity is presented. The behaviour is long standing, therapy-resistant, and its aetiology is unknown, although it is seemingly associated with chromosomal abnormalities secondary to abnormal plasma factors.

scholarly journals Perinatal outcomes in singleton live births after fresh blastocyst-stage embryo transfer: a retrospective analysis of 67 147 IVF/ICSI cycles

2019 ◽  
Vol 34 (9) ◽  
pp. 1716-1725 ◽  
Author(s):  
Nicola Marconi ◽  
Edwin Amalraj Raja ◽  
Siladitya Bhattacharya ◽  
Abha Maheshwari
Keyword(s):  
Birth Weight ◽  
Embryo Transfer ◽  
Group Analysis ◽  
Perinatal Outcomes ◽  
Blastocyst Stage ◽  
Blastocyst Transfer ◽  
High Birth Weight ◽  
Cleavage Stage ◽  
Cleavage Stage Embryo ◽  
Stage Embryo

Abstract STUDY QUESTION Are perinatal outcomes different between singleton live births conceived from fresh blastocyst transfer and those following the transfer of fresh cleavage-stage embryos? SUMMARY ANSWER Fresh blastocyst transfer does not increase risks of preterm birth (PTB), low/high birth weight or congenital anomaly and does not alter the sex ratio at birth or prejudice the chance of having a healthy baby. WHAT IS KNOWN ALREADY Extended embryo culture is currently considered the best option for embryo selection, but concerns have been raised about increased risks of preterm delivery and large-for-gestational-age (LGA) babies. STUDY DESIGN, SIZE, DURATION We conducted a retrospective cohort study based on data from the Human Fertilisation and Embryology Authority (HFEA) anonymised and cycle-based dataset in the UK between 1999 and 2011. PARTICIPANTS/MATERIALS, SETTING, METHODS Baseline characteristics were compared between in vitro fertilisation (IVF)/intracytoplasmic sperm injection (ICSI) blastocyst-stage and cleavage-stage embryo transfer cycles using the χ2 test for categorical/dichotomised covariates and the Mann–Whitney test for continuous covariates. Statistical significance was set at <0.005. Poisson regression and multinomial logistic regression were used to establish relationships between perinatal outcomes and blastocyst-stage embryo transfer or cleavage-stage embryo transfer. Risk ratios (RRs), adjusted risk ratios (aRRs) and their 99.5% confidence intervals (CIs) were calculated as a measure of strength of associations. Results were adjusted for clinically relevant covariates. A sub-group analysis included women undergoing their first IVF/ICSI treatment. The level of significance was set at <0.05, and 95% CIs were calculated in the sub-group analysis. MAIN RESULTS AND THE ROLE OF CHANCE Of a total of 67 147 IVF/ICSI cycles, 11 152 involved blastocyst-stage embryo(s) and 55 995 involved cleavage-stage embryo(s). The two groups were comparable with regards to the risk of PTB (aRR, 1.00; 99.5% CI, 0.79–1.25), very-preterm birth (VPTB) (aRR, 1.00; 99.5% CI, 0.63–1.54), very-low birth weight (VLBW) (aRR, 0.84; 99.5% CI, 0.53–1.34), low birth weight (LBW) (aRR, 0.92; 99.5% CI, 0.73–1.16), high birth weight (HBW) (aRR, 0.94; 99.5% CI, 0.75–1.18) and very-high birth weight (VHBW) (aRR, 1.05; 99.5% CI, 0.66–1.65). The risk of congenital anomaly was 16% higher in the blastocyst-stage group than in the cleavage-stage group, but this was not statistically significant (aRR, 1.16; 99.5% CI, 0.90–1.49). The chance of having a healthy baby (born at term, with a normal birth weight and no congenital anomalies) was not altered by extended culture (aRR, 1.00; 99.5% CI, 0.93–1.07). Extended culture was associated with a marginal increase in the chance having a male baby in the main cycle-based analysis (aRR, 1.04; 99.5% CI, 1.01–1.09) but not in the sub-group analysis of women undergoing their first cycle of treatment (aRR, 1.04; 95% CI, 1.00–1.08). In the sub-group analysis, the risk of congenital anomalies was significantly higher after blastocyst-stage embryo transfer (aRR, 1.42; 95% CI, 1.12–1.81). LIMITATIONS, REASONS FOR CAUTION This study is limited by the use of observational data and inability to adjust for key confounders, such as maternal smoking status and body mass index (BMI), which were not recorded in the HFEA dataset. As the main analysis was cycle-based and we were unable to link cycles within women undergoing more than one IVF/ICSI cycle, we undertook a sub-group analysis on women undergoing their first treatment cycle. WIDER IMPLICATIONS OF THE FINDINGS Our findings should reassure women undergoing blastocyst-stage embryo transfer. For the first time, we have shown that babies born after blastocyst transfer have a similar chance of being healthy as those born after cleavage-stage embryos transfer. STUDY FUNDING/COMPETING INTEREST(S) The research activity of Dr Nicola Marconi was funded by the scholarship ‘A. Griffini-J. Miglierina’, Fondazione Comunitaria del Varesotto, Provincia di Varese, Italy. The authors do not have any competing interests to disclose. TRIAL REGISTRATION NUMBER N/A

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