Investigation of the relationship between reproductive disorders and chromosomal abnormalities in a large-scale, single-center 10-year retrospective study

Ertosun, Mustafa Gökhan; ARACI, Duygu Gamze; PEKER, Alp; UZUNER, Sezin YAKUT; TOYLU, Aslı; ÖZEKINCI, Murat; USTA, Mustafa Faruk; Clark, Özden Altıok

doi:10.1016/j.jogoh.2022.102467

Cited by 4 publications

(3 citation statements)

References 27 publications

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“…CAs can result in phenotypes, such as CHD and DSD. CAs are categorized into numerical and structural abnormalities based on the mechanisms of chromosome segregation errors or DNA damage (7,8). Numerical CAs were the predominant anomalies observed in cases of CHD, cryptorchidism, and DSD, respectively accounting for 73.55%, 66.67%, and 93.47%.…”

Section: Wwwirdrjournalcommentioning

confidence: 99%

“…CAs are also associated with disorders of reproductive and sexual development (5,6). Numerical CAs, mainly including aneuploidy, are caused by chromosome segregation errors in mitosis, whereas structural CAs in the form of chromosomal fragments, rearrangements, chromosomal translocations, and heterozygous deletions are the result of DNA damage and arm-level chromosome gain or loss (7,8). Despite many studies focusing on the identification of associated genes using whole-exome sequencing, there remains a lack of multicenter studies on CAs.…”

Section: Introductionmentioning

confidence: 99%

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Systematic analysis and evaluation of chromosome aberrations in major birth defects associated with infertility

Lan,

Chen,

Lin

2024

IRDR

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chromosomal aberration, birth defects, infertility Previous studies have indicated an elevated risk of infertility in certain birth defects, including congenital heart disease (CHD), hypospadias, cryptorchidism, and disorders of sexual development (DSD). Although the identification of chromosomal abnormalities or chromosomal aberrations (CAs) is crucial for the diagnosis of these conditions, the assessment of CAs in these disorders remains unclear, and few large-scale studies have been conducted at multiple centers. The aim of the current study was to systematically evaluate the prevalence of CAs in CHD, hypospadias, cryptorchidism, and DSD. Studies reporting CAs in these birth defects were retrospectively analyzed from 1991-2023, using online databases such as PubMed and Google scholar as well as preprints and references from related literature. Comprehensive screening, data acquisition, and systematic assessments of the identified literature were performed. Ultimately, searches yielded a total of 7,356 samples from 14 published articles on CHD, 298 hypospadias cases from 4 published articles, 1,681 cryptorchidism cases from 4 published articles, and 2,876 DSD cases from 7 published articles. Carrier rates of CAs varied widely among these studies and conditions. A retrospective analysis revealed that CHD was associated with the highest carrier rate (26%) for CAs, followed by DSD (21%), hypospadias (9%), and cryptorchidism (5%). A subtype analysis of CAs indicated a higher prevalence of numerical abnormalities among the reported cases. Therefore, considering CAs in birth defects associated with infertility is imperative. This provides a foundation for the further clinical implementation of chromosomal screening and enhancing high-risk screening for individuals in the real world.

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Section: Wwwirdrjournalcommentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Systematic analysis and evaluation of chromosome aberrations in major birth defects associated with infertility

Lan,

Chen,

Lin

2024

IRDR

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“…Karyotype analysis is helpful in identifying chromosomal abnormalities, such as structural rearrangements or aneuploidy [64]. These abnormalities may include balanced translocations, inversions, or deletions in either partner [65][66][67]. A balanced translocation occurs when two chromosomes exchange pieces of genetic material without any loss or gain of genetic material.…”

Section: Karyotype Analysismentioning

confidence: 99%

Investigating the Genetic Basis of Unexplained Infertility and Potential Chromosomal Abnormalities

Mega Obukohwo,

Abosede Oreoluwa,

Comfort

et al. 2024

OBM Genet

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Infertility affects millions globally, with 10-15% of couples experiencing unexplained cases. Despite advancements in medicine, the cause remains unknown, causing emotional distress. Recent research suggests a genetic basis for this issue. This review aims to provide a better understanding of the underlying genetic factors contributing to unexplained infertility and potentially identify genetic markers that could aid in the diagnosis and treatment of this condition. A literature review was conducted to understand the genetic basis of unexplained infertility. Relevant articles from databases like PubMed and Google Scholar were analyzed, covering topics like genetics, chromosomal abnormalities, genetic markers, and fertility, resulting in 50 articles. The literature review revealed that there is a strong correlation between unexplained infertility and chromosomal abnormalities. Several studies have reported an increased rate of chromosomal abnormalities in couples with unexplained infertility compared to those with normal fertility. Around 10% of couples with unexplained infertility had chromosomal abnormalities, with the most common being translocations. A higher rate of chromosomal abnormalities in couples with unexplained infertility who had a history of recurrent miscarriages. The review reveals a significant genetic component to unexplained infertility, with chromosomal abnormalities in affected couples indicating underlying genetic factors. Further research is needed to identify specific genetic markers for diagnosis and treatment, potentially leading to personalized treatment options. Genetic counseling and testing should be considered for couples with recurrent miscarriages to identify potential abnormalities and provide appropriate support.

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Chromosome aberrations

Renieri¹,

Vakonaki²,

Fragkiadaki³

2024

Encyclopedia of Toxicology

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Investigation of the relationship between reproductive disorders and chromosomal abnormalities in a large-scale, single-center 10-year retrospective study

Cited by 4 publications

References 27 publications

Systematic analysis and evaluation of chromosome aberrations in major birth defects associated with infertility

Systematic analysis and evaluation of chromosome aberrations in major birth defects associated with infertility

Investigating the Genetic Basis of Unexplained Infertility and Potential Chromosomal Abnormalities

Chromosome aberrations

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