Trisomy 21 and Assisted Reproductive Technologies: A review

Sánchez-Pavón, Edgard; Mendoza, Hector; García-Ferreyra, Javier

doi:10.5935/1518-0557.20210047

Cited by 13 publications

(10 citation statements)

References 162 publications

(199 reference statements)

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“…Actually, it is hypothesized that a great part of idiopathic infertility cases would have an epigenetic origin, being more frequent than the exclusive genetics ones [ 22 , 29 , 45 ]. It is worth highlighting that the shorter latency period of the spermatozoa compared with the oocyte makes the probability of gaining epigenetic modifications smaller [ 23 , 46 ]. The main roles of epigenetics in sperm functions and how they can be altered are discussed below.…”

Section: Resultsmentioning

confidence: 99%

Epigenetics Role in Spermatozoa Function: Implications in Health and Evolution—An Overview

Andreu-Noguera

López-Botella

Sáez‐Espinosa

et al. 2023

Life

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The unique properties of spermatozoa are established through the spermatogenesis and maturation processes concurrently with its epigenome. It is known that damage to epigenetic mechanisms can lead to reproductive problems. However, scientific reviews addressing the role of the spermatozoa epigenome during the reproductive process are scarce. Therefore, the aim of this review was to offer a detailed overview of current knowledge in the field of spermatozoa epigenetics and its consequent implications. A full search was performed through three databases by combining five keywords. Inclusion criteria were implemented to grant accessibility, relevance, and concretion. Besides, some articles were manually removed or added to obtain an adequate and complete collection of 485 scientific publications. This compilation was used to conduct the bibliometric analysis and the data review separately. Bibliometric results displayed that spermatozoa epigenetics is an active and growing research area. The bibliographic overview showed that sperm epigenome correlates with the development of its function, explaining the environmental influence on reproductive pathologies or abnormal inheritance. The main conclusions were that the normal performance of sperm is heavily reliant on its epigenetics and that this study area is burgeoning, with the potential ability to provide society with clinical innovations in a short-term period.

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Section: Resultsmentioning

confidence: 99%

Epigenetics Role in Spermatozoa Function: Implications in Health and Evolution—An Overview

Andreu-Noguera

López-Botella

Sáez‐Espinosa

et al. 2023

Life

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“…We conducted further follow-up and found that although fetal malformations or RSA could not be diagnosed prior to IVF, there must have been some specific reasons for choosing IVF, such as older maternal age, biochemical pregnancy or only one case of embryonic arrest, and untested aborted tissue. In addition to the IVF process itself, ovarian stimulation and cryopreservation are potential factors contributing to fetal aneuploidy [ 17 , 18 ] and we must acknowledge that the aforementioned confounding factors were not controlled for in this study and it was difficult for us to do so. There is no doubt that the rapid development of ART has solved many fertility problems.…”

Section: Discussionmentioning

confidence: 99%

Association of maternal risk factors with fetal aneuploidy and the accuracy of prenatal aneuploidy screening: a correlation analysis based on 12,186 karyotype reports

Wei

Zhang

Shi³

et al. 2023

BMC Pregnancy Childbirth

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Background NIPT is becoming increasingly important as its use becomes more widespread in China. More details are urgently needed on the correlation between maternal risk factors and fetal aneuploidy, and how these factors affect the accuracy of prenatal aneuploidy screening. Methods Information on the pregnant women was collected, including maternal age, gestational age, specific medical history and results of prenatal aneuploidy screening. Additionally, the OR, validity and predictive value were also calculated. Results A total of 12,186 analysable karyotype reports were collected with 372 (3.05%) fetal aneuploidies, including 161 (1.32%) T21, 81 (0.66%) T18, 41 (0.34%) T13 and 89 (0.73%) SCAs. The OR was highest for maternal age less than 20 years (6.65), followed by over 40 years (3.59) and 35–39 years (2.48). T13 (16.95) and T18 (9.40) were more frequent in the over-40 group (P < 0.01); T13 (3.62/5.76) and SCAs (2.49/3.95) in the 35–39 group (P < 0.01). Cases with a history of fetal malformation had the highest OR (35.94), followed by RSA (13.08): the former was more likely to have T13 (50.65) (P < 0.01) and the latter more likely to have T18 (20.50) (P < 0.01). The sensitivity of primary screening was 73.24% and the NPV was 98.23%. The TPR for NIPT was 100.00% and the respective PPVs for T21, T18, T13 and SCAs were 89.92, 69.77, 53.49 and 43.24%, respectively. The accuracy of NIPT increased with increasing gestational age (0.81). In contrast, the accuracy of NIPT decreased with maternal age (1.12) and IVF-ET history (4.15). Conclusions ①Pregnant patients with maternal age below 20 years had higher risk of aneuploidy, especially in T13; ②A history of fetal malformations is more risky than RSA, with the former more likely to have T13 and the latter more likely to have T18; ③Primary screening essentially achieves the goal of identifying a normal karyotype, and NIPT can accurately screen for fetal aneuploidy; ④A number of maternal risk factors may influence the accuracy of NIPT diagnosis, including older age, premature testing, or a history of IVF-ET. In conclusion, this study provides a reliable theoretical basis for optimizing prenatal aneuploidy screening strategies and improving population quality.

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“…The concept of genetic imbalance has been widely reported for over a century, describing the phenomenon that changing the dosage of individual chromosomes or large chromosomal segments (aneuploidy) has more severe effects on the phenotype than changing a whole set of chromosomes in a genome (ploidy) (Birchler and Veitia, 2012, 2021). In human, only trisomies 13, 18, and 21 of the entire autosomal aneuploidies can survive to birth, while only trisomy 21 can survive to adulthood (Orr et al, 2015; Sanchez-Pavon et al, 2021). This fact may be related to the size of chromosomes or the number of genes contained, with chromosome 21 encoding the fewest genes and causing the least global disruption of gene expression.…”

Section: Discussionmentioning

confidence: 99%

Inverse and ProportionaltransModulation of Gene Expression in Human Aneuploidies

Zhang,

Wang,

Zhang

et al. 2023

Preprint

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Genomic imbalance in aneuploidy is often detrimental to organisms. To gain insight into the molecular basis of aneuploidies in humans, we analyzed transcriptome data from several autosomal and sex chromosome aneuploidies. The results showed that in human aneuploid cells, genes located on unvaried chromosomes are inversely or proportionally trans-modulated, while a subset of genes on the varied chromosomes are compensated. Less genome-wide modulation is found for sex chromosome aneuploidy compared with autosomal aneuploidy due to X inactivation and the retention of dosage sensitive regulators on both sex chromosomes to limit the effective dosage change. We also found that lncRNA and mRNA can have different responses to aneuploidy. Furthermore, we analyzed the relationship between dosage-sensitive transcription factors and their targets, which illustrated the modulations and indicates genomic imbalance is related to stoichiometric changes of components of gene regulatory complexes.

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Trisomy 21 and Assisted Reproductive Technologies: A review

Cited by 13 publications

References 162 publications

Epigenetics Role in Spermatozoa Function: Implications in Health and Evolution—An Overview

Epigenetics Role in Spermatozoa Function: Implications in Health and Evolution—An Overview

Association of maternal risk factors with fetal aneuploidy and the accuracy of prenatal aneuploidy screening: a correlation analysis based on 12,186 karyotype reports

Inverse and ProportionaltransModulation of Gene Expression in Human Aneuploidies

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