Preimplantation genetic diagnosis

Egozcue, J.; Santaló, Josep; Giménez, Carles; Pérez, N.; Vidal, Francesca

doi:10.1016/s0303-7207(00)00293-8

Cited by 10 publications

(5 citation statements)

References 30 publications

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“…Futhermore, there is evidence of a higher number of chromosomes without recombination hotspots during meiosis I, which is associated with abnormal segregation of chromosome 21 ( Oliver et al ., 2009 ), and errors during meiosis II ( Uroz & Templado, 2012 ). Secondary spermatocyte disomy is primarily caused by the absence of chiasmata of meiosis I chromosomes and errors during segregation of bivalents with reduced numbers of chiasmas, thus resulting in diploid spermatozoa and aneuploid embryos ( Egozcue et al ., 2000 ; Munné et al ., 2007 ; Magli et al ., 2009 ).…”

Section: Paternal Effect On Trisomy 21mentioning

confidence: 99%

Trisomy 21 and Assisted Reproductive Technologies: A review

Sánchez-Pavón¹,

Mendoza

García-Ferreyra³

2022

JBRA Assisted Reproduction

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Trisomy 21 is the most common genetic disorder seen among infants, and it causes spontaneous abortions, abnormal neural development and other pathologies associated with newborn development. In newborns with this trisomy, 90-95% have full trisomy, 1.4-1.9% have mosaicism, and 1-4.7% have translocations. The principal cause of trisomy 21 is advanced maternal age, in which recombination errors may occur during fetal development, age-related accumulation of damaged DNA, cohesin degradation producing the premature loss of chromosomes or sister chromatids, and alterations during the spindle formation process. The paternal age has also an effect on trisomy 21, specifically during male aging, when there is higher risk of chromosomal breaking in spermatozoa. Epigenetics is also an important risk factor of trisomy 21 through changes in the DNA methylation process, histone modification and non-coding RNAs. Assisted reproductive technologies (ART) have emerged in recent years as a safe alternative for couples with fertility problems. These techniques, which include controlled ovarian stimulation (COS), in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI) and vitrification, decrease the incidence of aneuploidy in human preimplantation embryos, and are widely used. The following study aims to review and discuss the available literature on trisomy 21 in the field of assisted human reproduction.

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Section: Paternal Effect On Trisomy 21mentioning

confidence: 99%

Trisomy 21 and Assisted Reproductive Technologies: A review

Sánchez-Pavón¹,

Mendoza

García-Ferreyra³

2022

JBRA Assisted Reproduction

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“…Mutations that can be detected by PCR are limited. Analyse embryo by PCR diagnose mutation of genetic information of holder monogenetic diseases such as cystic fibrosis, Huntington disease or disease linked to chromosome X (20). Diagnosis of single-gene disorders is the aim of PCR technique.…”

Section: Invasive Technique -Pgd Fish Cgh Pcrmentioning

confidence: 99%

Methods of embryo selection: Positive and negative state of selected methodologies

Miklosova¹,

Sivrev²

2015

TJS

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Methods of embryo selection are based on invasive or noninvasive procedures which have a significant individual benefits and limitation that affect to transfer healthy embryo into uterus. Invasive techniques of preimplantation genetic diagnosis (such as FISH, CGH, PCR) increase implantation rates and reduce frequency of anomalies that are typical for developmental embryos. Using and improvment these techniques represent an effective strategy to reduce multiple gestation because of possibility to transfer singelton embryo during one IVF cycle. Non-invasive techniques such time-lapse microscopy represent new methodology that occur to analyse embryo in stable culture conditions without a risk of sample contamination or sample error. The aim idea of this review was to mention on variable techniques of selecting embryo, their positive and negative statement, and bring a future direction to eventual research.

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“…Имеет большое значение, кто из родителей является носителем структурной перестройки, поскольку эмпирический риск для потомства при наличии перестройки у ма тери выше, чем риск при отцовском носитель стве [54]. При некоторых сбалансированных транслокациях риск повторного спонтанного аборта или рождения ребенка с хромосомной патологией настолько велик, что методом вы бора при лечении невынашивания в таких слу чаях является экстракорпоральное оплодотво рение после проведения преимплантационной диагностики [15,38,46].…”

Section: сбалансированные хромосомные перестройки у родителей как причина привычного невынашиванияunclassified

“…Выявление носительства хромосомных пе рестроек или невынашивание в анамнезе явля ется показанием к преимплантационной диаг ностике при экстракорпоральном оплодотворе нии [15,58]. Выявление хромосомных анома лий при преимплантационой диагностике поз воляет многократно снизить имплантационные потери и случаи невынашивания беременности после ЭКО [36].…”

Section: хромосомные аномалии как причина неудач при вспомогательных репродуктивных технологияхunclassified

Cytogenetical aspects of miscarriages and reproductive failures at assisted fertilization technologies

2003

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It is known that chromosomal abnormalities are one of the most important causes of the spontaneous abortions. In this review we have considered the cytogenetical disturbances which can lead to miscarriages and embrio losses at assisted fertilization technologies. We have analyzed the structure of chromosome aberrations in spontaneous abortions and influence of the different types of alterations on the forecasting the future pregnancy outcomes. It has been considered the probability of recurrence of the pregnancy losses in patients-carriers of structural balanced chromosome rearrangements. In vitro fertilization implantation failures like as the miscarriages can depend on presence of chromosome anomalies including the occasions when the parents are the carriers of structural unbalanced rearrangements. So the kariotyping of couples, which require the assisted fertilization technologies, should be the necessary part of preliminary investigation.

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Preimplantation genetic diagnosis

Cited by 10 publications

References 30 publications

Trisomy 21 and Assisted Reproductive Technologies: A review

Trisomy 21 and Assisted Reproductive Technologies: A review

Methods of embryo selection: Positive and negative state of selected methodologies

Cytogenetical aspects of miscarriages and reproductive failures at assisted fertilization technologies

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