scholarly journals Pre- and Postnatal Genetic Evaluation reduce the Reproductive Risk of nonhomologous Robertsonian Translocation Carrier Couple

2017 ◽  
Vol 8 (1) ◽  
pp. 36-40
Keyword(s):  
Spontaneous Abortion ◽  
Robertsonian Translocation ◽  
Chromosomal Abnormalities ◽  
Chromosomal Rearrangements ◽  
Genetic Evaluation ◽  
Fish Analysis ◽  
Translocation Carrier ◽  
Laboratory Manual ◽  
Reproductive Risk ◽  
Normal Offspring

ABSTRACT Purpose Spontaneous abortion has been reported in 15 to 20% of all diagnosed pregnancies. The most common cause of spontaneous abortion is chromosomal abnormalities of the embryo. Robertsonian translocation (RT) is one of the major chromosomal rearrangements with a prevalence rate of 0.1% of the general population and 1% of the infertile population. Robertsonian translocation carriers, especially 21-14, are the most common balanced rearrangement among the carrier couples with a history of spontaneous abortion. Materials and methods Cytogenetic analysis was carried out based on phytohemagglutinin-stimulated peripheral blood lymphocyte cultures and without phytohemagglutinin-stimulated amniocyte culture. Lymphocyte and amniocyte culturing and GTG banding were performed following standard protocols as described by the Association of genetic technologists (AGT) Cytogenetics Laboratory Manual. Results Cytogenetic evaluation of both the partners and the child revealed that the child had translocated Down's syndrome and the mother was a carrier of balanced RT of 14q;21q. Amniocentesis of the next pregnancy and detection of chromosomal abnormality in the fetus was done by fluorescence in situ hybridization (FISH) analysis of the amniotic cells with 13,18,21,X,Y probe mix found normal chromosomal constituent in the fetus. Conclusion The present study shows that genetic counseling, cytogenetic evaluation, prenatal diagnosis by amniocentesis, and FISH together help couples with nonhomologous RT and history with syndromic child and repeated abortions to get normal offspring. How to cite this article De P, Chakravarty S, Chakravarty A. Pre- and Postnatal Genetic Evaluation reduce the Reproductive Risk of nonhomologous Robertsonian Translocation Carrier Couple. Int J Infertil Fetal Med 2017;8(1):36-40.

scholarly journals Invasive Pre- and Postnatal Genetic Evaluation reduces the Reproductive Risk in the Era of Noninvasive or Minimally Invasive Prenatal Screening Method

2017 ◽  
Vol 1 (1) ◽  
pp. 35-39
Author(s):  
Amit Chakravarty ◽  
Puspal De ◽  
Sudipa Chakravarty
Keyword(s):  
Minimally Invasive ◽  
Spontaneous Abortion ◽  
Robertsonian Translocation ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Chromosomal Rearrangements ◽  
Screening Method ◽  
Genetic Evaluation ◽  
Fish Analysis ◽  
Reproductive Risk

ABSTRACT Introduction Spontaneous abortion has been reported in 15 to 20% of all diagnosed pregnancies. The most common cause of spontaneous abortion is chromosomal abnormalities of the embryo. Robertsonian translocation is one of the major chromosomal rearrangements with a prevalence rate of 0.1% of the general population and 1% of the infertile population. Robertsonian translocation carriers especially 21,14 are the most common balanced rearrangements among the carrier couples with a history of spontaneous abortion. Materials and methods Cytogenetic evaluation of both the partners and the child revealed that the child had translocated Down’s syndrome and the mother was carrier of balanced Robertsonian translocation of 14q;21q. Amniocentesis of the next pregnancy and detection of chromosomal abnormality in the fetus were done by fluorescence in situ hybridization (FISH) analysis of the amniotic cells with 13,18,21,X,Y probe mix. Conclusion The present case study shows that genetic counseling, cytogenetic evaluation, prenatal diagnosis by amniocentesis, and FISH together help couples with nonhomologous RT and history with syndromic child and repeated abortions to get normal offspring. How to cite this article De P, Chakravarty S, Chakravarty A. Invasive Pre- and Postnatal Genetic Evaluation reduces the Reproductive Risk in the Era of Noninvasive or Minimally Invasive Prenatal Screening Method. Int J Gynecol Endsc 2017;1(1):35-39.

scholarly journals Features of chromosomal abnormalities in spontaneous abortion cell culture failures detected by interphase FISH analysis

2004 ◽  
Vol 12 (7) ◽  
pp. 513-520 ◽  
Author(s):  
Igor N Lebedev ◽  
Nadezhda V Ostroverkhova ◽  
Tatyana V Nikitina ◽  
Natalia N Sukhanova ◽  
Sergey A Nazarenko
Keyword(s):  
Cell Culture ◽  
Spontaneous Abortion ◽  
Chromosomal Abnormalities ◽  
Fish Analysis ◽  
Interphase Fish

scholarly journals Chromosomal Abnormalities in Couples with Primary and Secondary Infertility: Genetic Counseling for Assisted Reproductive Techniques (ART)

2020 ◽  
Author(s):  
Subhadra Poornima ◽  
Swarnalatha Daram ◽  
Rama Krishna Devaki ◽  
Hasan Qurratulain
Keyword(s):  
Chromosomal Abnormalities ◽  
Genetic Counselor ◽  
Chromosomal Rearrangements ◽  
Assisted Reproductive Techniques ◽  
World Health ◽  
Diagnostic Tools ◽  
Secondary Infertility ◽  
Laboratory Manual ◽  
Reproductive Techniques ◽  
Reproductive Counseling

Background: World Health Organization estimates that 60-80 million couple world-wide currently suffer from infertility. Recurrent pregnancy loss (RPL) is also another major concern. Chromosomal rearrangements play a crucial role in primary and secondary infertility and RPL. Underlying genetic abnormalities like chromosomal abnormalities contribute to 5-10% of the reproductive failures. The aim of the study was to evaluate the chromosomal abnormalities in infertility and RPL cases to help obstetrician/fertility experts to carry out risk assessment and provide appropriate assisted reproductive techniques for better management of the problem. Methods: Karyotyping was performed for 414 cases with the history of infertility and RPL over a period of one year. Samples were processed according to procedures of AGT cytogenetic laboratory manual. Results: Chromosomal abnormalities were observed in 15% of cases. Robertsonian translocation, reciprocal translocation, inversion, derivatives, marker chromosomes, mosaics, aneuploidy and polymorphic variants each contributed 2%, 3%, 3%, 13%, 2%, 10%, 6% and 61%, respectively. Conclusion: Evaluation of chromosomal abnormalities in couple is warranted prior to planning pregnancy especially for assisted reproductive management cases. Chro-mosomal analysis can be used as one of the diagnostic tools by OBG/IVF specialists in association with geneticist/genetic counselor for proper reproductive counseling and management.    

Analysis of Meiotic Segregation Pattern and Interchromosomal Effects in a Bull Heterozygous for a 3/16 Robertsonian Translocation

2018 ◽  
Vol 156 (4) ◽  
pp. 197-203 ◽  
Author(s):  
Harmonie Barasc ◽  
Nathalie Mouney-Bonnet ◽  
Clémence Peigney ◽  
Anne Calgaro ◽  
Clémence Revel ◽  
...  
Keyword(s):  
Robertsonian Translocation ◽  
Chromosomal Rearrangements ◽  
Segregation Pattern ◽  
Fish Analysis ◽  
Meiotic Segregation ◽  
Robertsonian Translocations ◽  
Sperm Nuclei ◽  
Meiotic Segregation Pattern ◽  
First Time ◽  
Low Rate

Robertsonian translocations are the most frequent chromosomal rearrangements detected in cattle. Here, we report on the detection of a new Robertsonian translocation between chromosomes BTA3 and BTA16. This rob(3;16) was dicentric, suggesting that its occurrence was recent. FISH analysis of decondensed sperm nuclei revealed a relatively low rate of unbalanced gametes produced by adjacent segregation (5.87%). In addition, and for the first time in bovines, a significant interchromosomal effect (ICE) was detected for 2 different autosomes: BTA17 (global disomy + nullisomy rate of 9%) and BTA20 (1.8%). These results suggest that ICE should be taken into consideration when assessing the putative effect of Robertsonian translocations on reproduction.

scholarly journals Comparative FISH analysis of Senna tora tandem repeats revealed insights into the chromosome dynamics in Senna

2021 ◽  
Vol 43 (3) ◽  
pp. 237-249 ◽  
Author(s):  
Thanh Dat Ta ◽  
Nomar Espinosa Waminal ◽  
Thi Hong Nguyen ◽  
Remnyl Joyce Pellerin ◽  
Hyun Hee Kim
Keyword(s):  
Tandem Repeats ◽  
Chromosomal Rearrangements ◽  
Organizer Region ◽  
Nucleolar Organizer Region ◽  
Nucleolar Organizer ◽  
Pericentromeric Region ◽  
Its2 Sequence ◽  
Fish Analysis ◽  
Chromosomal Distribution ◽  
Chromosome Dynamics

Abstract Background DNA tandem repeats (TRs) are often abundant and occupy discrete regions in eukaryotic genomes. These TRs often cause or generate chromosomal rearrangements, which, in turn, drive chromosome evolution and speciation. Tracing the chromosomal distribution of TRs could therefore provide insights into the chromosome dynamics and speciation among closely related taxa. The basic chromosome number in the genus Senna is 2n = 28, but dysploid species like Senna tora have also been observed. Objective To understand the dynamics of these TRs and their impact on S. tora dysploidization. Methods We performed a comparative fluorescence in situ hybridization (FISH) analysis among nine closely related Senna species and compared the chromosomal distribution of these repeats from a cytotaxonomic perspective by using the ITS1-5.8S-ITS2 sequence to infer phylogenetic relationships. Results Of the nine S. tora TRs, two did not show any FISH signal whereas seven TRs showed similar and contrasting patterns to other Senna species. StoTR01_86, which was localized in the pericentromeric regions in all S. tora, but not at the nucleolar organizer region (NOR) site, was colocalized at the NOR site in all species except in S. siamea. StoTR02_7_tel was mostly localized at chromosome termini, but some species had an interstitial telomeric repeat in a few chromosomes. StoTR05_180 was distributed in the subtelomeric region in most species and was highly amplified in the pericentromeric region in some species. StoTR06_159 was either absent or colocalized in the NOR site in some species, and StoIGS_463, which was localized at the NOR site in S. tora, was either absent or localized at the subtelomeric or pericentromeric regions in other species. Conclusions These data suggest that TRs play important roles in S. tora dysploidy and suggest the involvement of 45S rDNA intergenic spacers in “carrying” repeats during genome reshuffling.

scholarly journals Break–apart interphase fluorescence in situ hybridization assay in papillary thyroid carcinoma: on the road to optimizing the cut-off level for RET/PTC rearrangements

2015 ◽  
Vol 172 (5) ◽  
pp. 571-582 ◽  
Author(s):  
Chiara Colato ◽  
Caterina Vicentini ◽  
Silvia Cantara ◽  
Serena Pedron ◽  
Paolo Brazzarola ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Chromosomal Rearrangements ◽  
Study Cohort ◽  
Fish Analysis ◽  
Papillary Thyroid ◽  
Qrt Pcr ◽  
Molecular Events ◽  
On The Road

ObjectiveChromosomal rearrangements of theRETproto-oncogene is one of the most common molecular events in papillary thyroid carcinoma (PTC). However, their pathogenic role and clinical significance are still debated. This study aimed to investigate the prevalence of RET/PTC rearrangement in a cohort ofBRAFWT PTCs by fluorescencein situhybridization (FISH) and to search a reliable cut-off level in order to distinguish clonal or non-clonal RET changes.DesignFortyBRAFWT PTCs were analyzed by FISH for RET rearrangements. As controls, sixBRAFV600E mutated PTCs, 13 follicular adenomas (FA), and ten normal thyroid parenchyma were also analyzed.MethodsWe performed FISH analysis on formalin-fixed, paraffin-embedded tissue using a commercially available RET break–apart probe. A cut-off level equivalent to 10.2% of aberrant cells was accepted as significant. To validate FISH results, we analyzed the study cohort by qRT-PCR.ResultsSplit RET signals above the cut-off level were observed in 25% (10/40) of PTCs, harboring a percentage of positive cells ranging from 12 to 50%, and in one spontaneous FA (1/13, 7.7%). Overall, the data obtained by FISH matched well with qRT-PCR results. Challenging findings were observed in five cases showing a frequency of rearrangement very close to the cut-off.ConclusionsFISH approach represents a powerful tool to estimate the ratio between broken and non-broken RET tumor cells. Establishing a precise FISH cut-off may be useful in the interpretation of the presence of RET rearrangement, primarily when this strategy is used for cytological evaluation or for targeted therapy.

scholarly journals Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal Abnormalities

2015 ◽  
Vol 145 (1) ◽  
pp. 29-34 ◽  
Author(s):  
Devin M. Cox ◽  
Merlin G. Butler
Keyword(s):  
Intellectual Disability ◽  
Chromosomal Abnormalities ◽  
Receptor Gene ◽  
Partial Trisomy ◽  
Chromosome Translocation ◽  
Fish Analysis ◽  
Partial Monosomy ◽  
Chronic Anemia ◽  
Dysmorphic Features ◽  
History Of

We report a 36-year-old Caucasian male identified with distal partial trisomy 15q and partial monosomy 16p from an unbalanced chromosome translocation detected by microarray and FISH analysis. He had a history of developmental delay and intellectual disability, chronic anemia, tall and slender stature, thoracic scoliosis and lumbar lordosis, and dysmorphic features. The distal partial trisomy 15q included the insulin-like growth factor 1 receptor gene involved with growth, while genes in the distal partial monosomy 16p region are involved with alpha hemoglobin production, intellectual disability, dysmorphic features, and acromegaly. The chromosome derivative found in our patient contains genes known to play a role in his phenotype.

High Anti-Müllerian Hormone Level is Associated with A Lower Chromosomal Aberration Rate in Miscarried Conceptus From Women with Early Spontaneous Abortion

2020 ◽  
Author(s):  
Mingkun Mu ◽  
Simin Sun ◽  
Wei Zheng ◽  
Chen Yang ◽  
Shuheng Yang ◽  
...  
Keyword(s):  
Spontaneous Abortion ◽  
Chromosomal Aberration ◽  
Chromosomal Abnormalities ◽  
Clinical History ◽  
Advanced Age ◽  
Gene Testing ◽  
Significant Difference ◽  
Number Variation ◽  
Group 3 ◽  
Group 2

Abstract Background: Approximately 10-15% of clinically recognized pregnancies end in abortion. Most miscarriages occur as early spontaneous abortions. There are many factors leading to early spontaneous abortion, and 50–60% of such cases are associated with chromosomal abnormalities. The reason for this occurrence is not clear, but advanced age is a risk factor for chromosomal aberration in miscarried conceptus from women with early spontaneous abortion. As a marker of ovarian reserve, anti-Müllerian hormone (AMH) is negatively correlated with age. As women become older, AMH levels decrease. The objective of this study was to investigate whether different anti-Müllerian hormone (AMH) levels are associated with chromosomal aberration rate in miscarried conceptus from women who experience early spontaneous abortion.Methods: We collected the clinical history and miscarried conceptus of 434 women with early spontaneous abortion from January 2016 to June 2019. The women were divided into three groups according to AMH level (Group 1: low AMH <1.1 ng/ml [N =13], Group 2: normal AMH 1.1–4.5 ng/ml [N = 138], and Group 3: high AMH≥4.5 ng/ml [N =283]). Clinical history included age, anti-Müllerian hormone (AMH) level, number of previous abortions, estradiol (E2) level, luteinizing hormone (LH) level, follicle-stimulating hormone (FSH) level, infertile years, body mass index (BMI) and infertility factors. The miscarried conceptus was submitted for chromosomal copy number variation (CNV) analysis in the gene testing laboratory of the Third Affiliated Hospital of Zhengzhou University. Results: There were significant differences in age (39.5±4.3 vs. 33.0±5.3v s. 29.7±3.9, P＜0.001), E2 (187.9±513.4 vs. 92.9±160.6 vs. 66.5±139.3, P=0.019), LH (5.1±3.9 vs. 4.5±2.5 vs. 5.4±3.5, P=0.039), and FSH (10.7±5.6 vs. 7.3±2.6 vs. 6.4±2.1, P＜0.001) in different AMH groups. There were no significant differences in infertility years, BMI and infertility factors among the three groups.There was a significant difference in chromosomal aberration rate between different AMH groups (76.9% vs. 67.4% vs. 53.7%, Groups 2 vs. 3, respectively, P=0.008, OR 0.797, 95% CI 0.680-0.934). With the increase in AMH level, the chromosomal aberration rate in miscarried conceptus decreased gradually. After age stratification, the chromosomal aberration rate in miscarried conceptus was still significantly different among AMH groups, with a similar trend in women ≥35 years old (88.9% versus 76.0% versus 51.5%, P2 vs. 3 = 0.021, OR 0.678, 95% CI 0.470-0.977). There was the same trend in the younger group (＜35 years), but there was no significant difference (88.9% vs. 76.0% vs. 51.5).Conclusions: These findings indicate that high AMH level was associated with reduced risk of chromosomal aberration rate, especially in women of advanced age (≥35 years).

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