Combined Use of Cytogenetic and Molecular Methods in Prenatal Diagnostics of Chromosomal Abnormalities

Stomornjak-Vukadin, Meliha; Kurtovic-Basic, Ilvana; Mehinović, Lejla; Konjhodžić, Rijad

doi:10.5455/aim.2015.23.68-72

Cited by 4 publications

(3 citation statements)

References 8 publications

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“…It has been well accepted that women over age 35 at delivery are at higher risk for giving birth to a child with DS. In fact, for a long time, advanced maternal age (AMA) has been considered as a sole indication for genetic amniocentesis for definitive prenatal diagnosis ( Bornstein et al, 2009 ; Stomornjak-Vukadin et al, 2015 ). In our study, the incidence of DS in women over age 34 was significantly higher than in other age groups ( Table 2 ).…”

Section: Discussionmentioning

confidence: 99%

Incidence of Down Syndrome by maternal age in Chinese population

Song¹,

Jieping²,

Zhou

et al. 2022

Front. Genet.

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Objective: This study aims to estimate the maternal age-related risk of Down syndrome in an Asian population.Methods: We performed a retrospective data analysis including a total of 206,295 pregnant women who presented for second-trimester maternal serum screening for Down syndrome at Hubei Maternal and Child Health Hospital for the years 2008–2017. Cases were assigned to three groups: ≤26 years of age, 27–33 years of age, and ≥34 years of age. The incidence of Down Syndrome was calculated for each age group. The differences between groups were tested using the chi-square (χ2) test.Results: The incidence of Down syndrome in women ≤26 years of age, 27–33 years of age, and ≥34 years of age was 0.67‰, 0.29‰, and 2.07‰ respectively. Statistically significant difference was found between the three age groups (χ2 = 79.748, p < 0.05).Conclusion: Down syndrome rate was significantly higher in women ≥34 years of age. Younger women (≤26 years of age) had a significantly higher risk for Down’s syndrome, compared to women aged 27–33.

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Section: Discussionmentioning

confidence: 99%

Incidence of Down Syndrome by maternal age in Chinese population

Song¹,

Jieping²,

Zhou

et al. 2022

Front. Genet.

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“…FISH is the most commonly used method to evaluate CIN in patient samples [ 127 , 132 , 133 , 134 ], and studies carried out with this technique in parallel with other findings have shown that increased CIN can positively or negatively impact treatment responses [ 6 , 135 ].…”

Section: The Role Of Cin In Anticancer Therapy Responsesmentioning

confidence: 99%

The Role of Chromosomal Instability in Cancer and Therapeutic Responses

Vargas-Rondón

Villegas

Rondón-Lagos

2017

Cancers

153

113

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Cancer is one of the leading causes of death, and despite increased research in recent years, control of advanced-stage disease and optimal therapeutic responses remain elusive. Recent technological improvements have increased our understanding of human cancer as a heterogeneous disease. For instance, four hallmarks of cancer have recently been included, which in addition to being involved in cancer development, could be involved in therapeutic responses and resistance. One of these hallmarks is chromosome instability (CIN), a source of genetic variation in either altered chromosome number or structure. CIN has become a hot topic in recent years, not only for its implications in cancer diagnostics and prognostics, but also for its role in therapeutic responses. Chromosomal alterations are mainly used to determine genetic heterogeneity in tumors, but CIN could also reveal treatment efficacy, as many therapies are based on increasing CIN, which causes aberrant cells to undergo apoptosis. However, it should be noted that contradictory findings on the implications of CIN for the therapeutic response have been reported, with some studies associating high CIN with a better therapeutic response and others associating it with therapeutic resistance. Considering these observations, it is necessary to increase our understanding of the role CIN plays not only in tumor development, but also in therapeutic responses. This review focuses on recent studies that suggest possible mechanisms and consequences of CIN in different disease types, with a primary focus on cancer outcomes and therapeutic responses.

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“…For instance aneuploidy in porcine embryos was investigated using threecolor fluorescent in situ hybridization (FISH) method using chromosome-specific DNA probes; it enabled the establishment of baseline frequencies of aneuploidy in embryos, spermatozoa and oocytes [22,23]. Another molecular cytogenetic technique, primed in situ DNA synthesis (PRINS), has been applied to pig's genome to visualize the interstitial telomeric signal in the genome.…”

Section: Cytogenetics and Domestic Animal Studiesmentioning

confidence: 99%

Application of Veterinary Cytogenetics in Domestic Animals: A Review

Yahaya

Salisi

Isa

et al. 2019

ARRB

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Cytogenetics is the study of chromosomes; their structure and properties, chromosome behavior during cell division, their influence on traits and factors which cause changes in chromosomes. Veterinary cytogenetics is the application of cytogenetics to clinical problems that occur in animal production. It has been applied to understand problems such as infertility and its types, embryonic and fetal death, abnormality in sexual and somatic development and hybrid sterility and also prenatal sex determination and other forms of chromosomal abnormalities. These are achieved through conventional and banded karyotyping techniques and molecular cytogenetic techniques. Although conventional techniques are still useful and very widely applied, the nature of cytogenetics has gradually changed as a result of advances achieved in the molecular cytogenetic techniques for example fluorescent in situ hybridization and array-based techniques. These changes are evident in both molecular diagnostics and basic research. The combination of conventional and molecular cytogenetics has given rise to high resolution techniques which have enabled the study of fundamental questions regarding biological processes. It enables the study of inherited syndromes, the mechanisms of tumorigenesis at molecular level, genome organization and the determination of chromosome homologies between species. It allows the ease with which animals are selected in breeding programs and other important aspects of animal production. In this paper we discussed a number of techniques employed in cytogenetics and their methodologies, and recommend where future focus should be for the benefits of animal production.

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Combined Use of Cytogenetic and Molecular Methods in Prenatal Diagnostics of Chromosomal Abnormalities

Cited by 4 publications

References 8 publications

Incidence of Down Syndrome by maternal age in Chinese population

Incidence of Down Syndrome by maternal age in Chinese population

The Role of Chromosomal Instability in Cancer and Therapeutic Responses

Application of Veterinary Cytogenetics in Domestic Animals: A Review

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