Cytogenetic Studies of 608 couples with Recurrent Spontaneous Abortions in Northeastern Iran

Soltani, Narjes; Mirzaei, Farzaneh; Ayatollahi, Hossein

doi:10.30699/ijp.2021.521514.2554

Cited by 6 publications

(5 citation statements)

References 22 publications

(26 reference statements)

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“…Many previous studies show that structural chromosomal abnormalities are more common than numerical abnormalities. 15 In our study, we observed 2.2% structural chromosomal aberrations ( Table 2 ). Indeed, in our study, Robertsonian translocations were detected in 1.4% of couples, followed by reciprocal translocations (0.8%).…”

Section: Discussionsupporting

confidence: 55%

The pattern of chromosomal abnormalities in recurrent miscarriages: a single center retrospective study

2022

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BACKGROUND: Chromosomal abnormalities are more common in first trimester recurrent miscarriages (RM). Chromosomal anomalies affect approximately 2%-8% of couples with RM. OBJECTIVES: Evaluate the spectrum and the frequencies of chromosomal anomalies in RM. DESIGN: A retrospective hospital record-based descriptive study. SETTING: A tertiary care center in Turkey. PATIENTS AND METHODS: We studied couples with RM between October 2020 and January 2022. Relevant family and medical history, clinical examination and the results of karyotype were statistically analyzed. MAIN OUTCOME MEASURES: Prevalence and types of chromosomal aberrations in couples with RM. SAMPLE SİZE: 362 couples with a history of RM RESULTS: Among the 362 couples, 14 cases (3.86%) had chromosome abnormalities. Eight cases (57.14%) were structural anomalies and six cases (42.86%) were numerical chromosomal aberrations. We found five balanced translocations (67.5%) and three Robertsonian translocations (37.5%). The prevalence of polymorphic variants was 51/362 (14.1%). CONCLUSIONS: This study supports the conclusion that clinicians should understand the importance of chromosome analysis in these couples and direct them to karyotyping after two abortions in order to exclude the possibility of a genetic cause of RM. LIMITATIONS: Single-center study and retrospective. CONFLICT OF INTEREST: None.

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Section: Discussionsupporting

confidence: 55%

The pattern of chromosomal abnormalities in recurrent miscarriages: a single center retrospective study

2022

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“…Furthermore, acrocentric chromosomes are susceptible to uniparental disomy (UPD), which occurs with a prevalence of 0.6% in non-homologous RobTs and 66% in homologous RobTs. The data underscores the significant association between recurrent miscarriages and chromosomal structural abnormalities in parents, emphasizing the crucial role of these genetic factors in recurrent pregnancy losses ( 7 ).…”

Section: Introductionmentioning

confidence: 77%

Homozygosity for Robertsonian Translocation (14q;15q) in a Newborn with a Familial History of Recurrent Abortion and Newborns Affected by Hepatosplenomegaly: A Case Report

Sahraeean,

Jebelli,

Shahbazi

et al. 2023

JRI

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Background: Robertsonian translocations (RobTs) are one of the major chromosomal abnormalities which lead to spontaneous abortion. They occur in the human population at the rate of 1 in 1000 live infants. In this paper, a family carrying one of the rare RobTs was presented and some features of all kinds of RobTs were reviewed. Case Presentation: A couple with a history of three miscarriages was referred to Omid Health Clinic of Hamadan, Iran. The karyotype of the woman was 45,XX, rob(14;15)(q10;q10) and she exhibited phenotypically good health. Karyotype analysis of proband’s uncle and his wife with a consanguineous marriage revealed that they were both carriers of rob(14;15). This couple had six offspring, three of which were dead, and the other three were alive with a normal phenotype. Besides, this couple had an unborn child, with a karyotype of 44,XX,rob(14;15)(q10;q10). Conclusion: These observations showed that genetic counseling, pedigree, and chromosomal analysis are needed to discover the cause of spontaneous abortion, stillbirth, congenital anomalies, sudden infant death syndrome (SIDS), etc. Moreover, families carrying RobTs would be offered prenatal diagnosis screening tests and, if necessary, assisted reproductive technology methods to assist with preimplantation genetic test for structural rearrangement (PGT-SR) reproduction.

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“…Recurrent spontaneous abortion ANRIL decreases (122) Recurrent spontaneous abortion PVT1 decreases (122) Recurrent spontaneous abortion HOTAIR decreases (121) Recurrent spontaneous abortion SNHG5 decreases (119) Recurrent spontaneous abortion H19 increases (113) Recurrent spontaneous abortion MEG8 increases (122) Recurrent spontaneous abortion LINC01088 increases…”

Section: Discussionmentioning

confidence: 99%

Advances in Research on Aging in Female Infertility and Pathologic Pregnancy

2024

Frontiers Research Topics

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Frontiers is more than just an open access publisher of scholarly articles: it is a pioneering approach to the world of academia, radically improving the way scholarly research is managed. The grand vision of Frontiers is a world where all people have an equal opportunity to seek, share and generate knowledge. Frontiers provides immediate and permanent online open access to all its publications, but this alone is not enough to realize our grand goals. Frontiers journal seriesThe Frontiers journal series is a multi-tier and interdisciplinary set of openaccess, online journals, promising a paradigm shift from the current review, selection and dissemination processes in academic publishing. All Frontiers journals are driven by researchers for researchers; therefore, they constitute a service to the scholarly community. At the same time, the Frontiers journal series operates on a revolutionary invention, the tiered publishing system, initially addressing specific communities of scholars, and gradually climbing up to broader public understanding, thus serving the interests of the lay society, too. Dedication to qualityEach Frontiers article is a landmark of the highest quality, thanks to genuinely collaborative interactions between authors and review editors, who include some of the world's best academicians. Research must be certified by peers before entering a stream of knowledge that may eventually reach the public -and shape society; therefore, Frontiers only applies the most rigorous and unbiased reviews. Frontiers revolutionizes research publishing by freely delivering the most outstanding research, evaluated with no bias from both the academic and social point of view. By applying the most advanced information technologies, Frontiers is catapulting scholarly publishing into a new generation. What are Frontiers Research Topics?Frontiers Research Topics are very popular trademarks of the Frontiers journals series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area.

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Cytogenetic Studies of 608 couples with Recurrent Spontaneous Abortions in Northeastern Iran

Cited by 6 publications

References 22 publications

The pattern of chromosomal abnormalities in recurrent miscarriages: a single center retrospective study

The pattern of chromosomal abnormalities in recurrent miscarriages: a single center retrospective study

Homozygosity for Robertsonian Translocation (14q;15q) in a Newborn with a Familial History of Recurrent Abortion and Newborns Affected by Hepatosplenomegaly: A Case Report

Advances in Research on Aging in Female Infertility and Pathologic Pregnancy

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