Chromosome Breakage in Human Preimplantation Embryos from Carriers of Structural Chromosomal Abnormalities in Relation to Fragile Sites, Maternal Age, and Poor Sperm Factors

2012 ◽  
Vol 136 (1) ◽  
pp. 21-29 ◽  
Author(s):  
L. Xanthopoulou ◽  
H. Ghevaria ◽  
A. Mantzouratou ◽  
P. Serhal ◽  
A. Doshi ◽  
...  
Keyword(s):  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Chromosome Breakage ◽  
Fragile Sites ◽  
Preimplantation Embryos ◽  
Human Preimplantation Embryos

Cytogenetic analysis of human preimplantation embryos following developmental arrest in vitro

1998 ◽  
Vol 10 (6) ◽  
pp. 505 ◽  
Author(s):  
Paula A. Almeida ◽  
Virginia N. Bolton
Keyword(s):  
Chromosomal Abnormality ◽  
Cytogenetic Analysis ◽  
Chromosomal Abnormalities ◽  
Preimplantation Embryo ◽  
Preimplantation Embryos ◽  
Cell Stage ◽  
Developmental Arrest ◽  
The Relationship ◽  
Human Preimplantation Embryos

The relationship between chromosomal abnormalities in the human preimplantation embryo and developmental arrest in vitro was investigated. Cytogenetic analysis of 171 embryos that had arrested between the pronucleate and the 8-cell stages demonstrated that the overall incidence of chromosomal abnormality among these embryos was 63.4%. Of the embryos that arrested at the pronucleate stage (n = 48), 47.9% were chromosomally abnormal, compared with 59.5% of those that arrested between the 2- and 4-cell stages (n = 50), and 82.8% of those arrested between the 5- and 8-cell stage (n = 73). The rate of abnormality in embryos with poor morphology (irregular shaped blastomeres and considerable extracellular fragmentation) was significantly higher (86.8%; n = 33) than those with good morphology (60%; n = 51; P<0.005). These results suggest that there is an association between chromosomal abnormality, developmental arrest in vitro, and poor morphology.

Self-Correction of Chromosomal Abnormalities in Human Preimplantation Embryos and Embryonic Stem Cells

2013 ◽  
Vol 22 (17) ◽  
pp. 2449-2456 ◽  
Author(s):  
Masood Bazrgar ◽  
Hamid Gourabi ◽  
Mojtaba Rezazadeh Valojerdi ◽  
Poopak Eftekhari Yazdi ◽  
Hossein Baharvand
Keyword(s):  
Stem Cells ◽  
Embryonic Stem Cells ◽  
Chromosomal Abnormalities ◽  
Embryonic Stem ◽  
Preimplantation Embryos ◽  
Human Preimplantation Embryos

Dual and multiple trisomies: analysis of 38 cases from 13 thousand karyotyped embryos and fetuses

2017 ◽  
pp. 109-115
Author(s):  
N.P. Veropotvelyan ◽  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Chorionic Villus ◽  
Primary Group ◽  
Chorionic Villus Sampling ◽  
Missed Abortion ◽  
Reproductive Losses

The study presents data of different authors, as well as its own data on the frequency of multiple trisomies among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of chromosomal abnormalities (CA) in I and II trimesters of gestation. The objective: determining the frequency of occurrence of double (DT) and multiple trisomies (MT) among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of occurrence of HA in I and II trimesters of gestation; establishment of the most common combinations of diesel fuel and the timing of their deaths compared with single regular trisomy; comparative assessment materinskogo age with single, double and multiple trisomies. Patients and methods. During the period from 1997 to 2016, the first (primary) group of products in 1808 the concept of missed abortion (ST) of I trimester was formed from women who live in Dnepropetrovsk, Zaporozhye, Kirovograd, Cherkasy, Kherson, Mykolaiv regions. The average term of the ST was 8±3 weeks. The average age of women was 29±2 years. The second group (control) consisted of 1572 sample product concepts received during medical abortion in women (mostly residents of Krivoy Rog) in the period of 5-11 weeks of pregnancy, the average age was 32 years. The third group was made prenatally karyotyped fruits (n = 9689) pregnant women with high risk of HA of the above regions of Ukraine, directed the Centre to invasive prenatal diagnosis for individual indications: maternal age, changes in the fetus by ultrasound (characteristic malformations and echo markers HA) and high risk of HA on the results of the combined prenatal screening I and II trimesters. From 11 th to 14 th week of pregnancy, chorionic villus sampling was performed (n=1329), with the 16th week – platsentotsentez (n=2240), 18 th and 24 th week – amniocentesis (n=6120). Results. A comparative evaluation of maternal age and the prevalence anembriony among multiple trisomies. Analyzed 13,069 karyotyped embryonic and fetal I-II trimester of which have found 40 cases of multiple trisomies – 31 cases in the group in 1808 missed abortion (2.84% of total HA), 3 cases including 1 572 induced medabortov and 7 cases during 9689 prenatal research (0.51% of HA). Determined to share the double trisomies preembrionalny, fetal, early, middle and late periods of fetal development. Conclusion. There were no significant differences either in terms of destruction of single and multiple trisomies or in maternal age or in fractions anembrionalnyh pregnancies in these groups. Key words: multiple trisomies, double trisomy, missed abortion, prenatal diagnosis.

scholarly journals Extended embryo culture is effective for patients of an advanced maternal age

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
R. Sainte-Rose ◽  
C. Petit ◽  
L. Dijols ◽  
C. Frapsauce ◽  
F. Guerif
Keyword(s):  
Live Birth ◽  
Embryo Culture ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Inner Cell Mass ◽  
Cell Mass ◽  
Advanced Maternal Age ◽  
Birth Rates ◽  
Younger Women ◽  
Live Birth Rates

AbstractThe aim of this study was to determine the effectiveness of extended embryo culture in advanced maternal age (AMA) patients (37–43 years). In this retrospective analysis, 21,301 normally fertilized zygotes from 4952 couples were cultured until the blastocyst stage. Blastocyst development, including kinetics and morphology, transfer rate, implantation and live birth rates, were measured. In AMA patients, the blastocyst rate was significantly decreased as compared to that in younger women. On day 5, blastocysts underwent growth retardation in AMA patients, which was highlighted by a decreased rate of full/expanded blastocysts. Organization of the cells (trophectoderm and inner cell mass) was unaffected by age. However, in AMA patients, a ‘good’ morphology blastocyst had a decreased probability to implant compared with an ‘average’ morphology blastocyst in younger women. While the rates of blastocyst transfer and useful blastocysts were similar to younger patients, in AMA patients, both implantation and live birth rates were significantly reduced. Our results support the idea that extended embryo culture is not harmful for AMA patients. However, embryo selection allowed by such culture is not powerful enough to avoid chromosomal abnormalities in the developed blastocysts and therefore cannot compensate for the effect of a woman’s age.

scholarly journals Advanced maternal age perturbs mouse embryo development and alters the phenotype of derived embryonic stem cells

2021 ◽  
pp. 1-11
Author(s):  
Pooja Khurana ◽  
Neil R. Smyth ◽  
Bhavwanti Sheth ◽  
Miguel A. Velazquez ◽  
Judith J. Eckert ◽  
...  
Keyword(s):  
Maternal Age ◽  
Embryonic Stem ◽  
Mouse Embryonic Stem Cell ◽  
Advanced Maternal Age ◽  
Preimplantation Embryos ◽  
Dependent Manner ◽  
Ki 67 ◽  
Altered Expression ◽  
Developmental Potential ◽  
Developmental Mechanisms

Abstract Advanced maternal age (AMA) is known to reduce fertility, increases aneuploidy in oocytes and early embryos and leads to adverse developmental consequences which may associate with offspring lifetime health risks. However, investigating underlying effects of AMA on embryo developmental potential is confounded by the inherent senescence present in maternal body systems further affecting reproductive success. Here, we describe a new model for the analysis of early developmental mechanisms underlying AMA by the derivation and characterisation of mouse embryonic stem cell (mESC-like) lines from naturally conceived embryos. Young (7–8 weeks) and Old (7–8 months) C57BL/6 female mice were mated with young males. Preimplantation embryos from Old dams displayed developmental retardation in blastocyst morphogenesis. mESC lines established from these blastocysts using conventional techniques revealed differences in genetic, cellular and molecular criteria conserved over several passages in the standardised medium. mESCs from embryos from AMA dams displayed increased incidence of aneuploidy following Giemsa karyotyping compared with those from Young dams. Moreover, AMA caused an altered pattern of expression of pluripotency markers (Sox2, OCT4) in mESCs. AMA further diminished mESC survival and proliferation and reduced the expression of cell proliferation marker, Ki-67. These changes coincided with altered expression of the epigenetic marker, Dnmt3a and other developmental regulators in a sex-dependent manner. Collectively, our data demonstrate the feasibility to utilise mESCs to reveal developmental mechanisms underlying AMA in the absence of maternal senescence and with reduced animal use.

scholarly journals Predictive value of aberrant right subclavian artery for fetal chromosome aneuploidy in women of advanced maternal age

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Li-Ping Chen ◽  
Yong-Feng Lai ◽  
Xiao-Hong Zhong ◽  
Jian-Hong You ◽  
Jiang-Hua Chen ◽  
...  
Keyword(s):  
Subclavian Artery ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Age Groups ◽  
Advanced Maternal Age ◽  
Aberrant Right Subclavian Artery ◽  
High Prevalence ◽  
Ultrasound Findings ◽  
Increase Risk ◽  
Singleton Pregnancies

Abstract Background In the entire population, an aberrant right subclavian artery (ARSA) is closely associated with chromosomal abnormalities. ARSA with additional ultrasonic findings would increase risk of chromosomal abnormalities. The risk of fetal chromosomal abnormalities increased exponentially with the maternal age. These risks in the advanced maternal age (AMA) group are uncertain. This study aimed to determine the incidence of ARSA in Chinese AMA and non-AMA women and the frequency of aneuploidy among AMA and non-AMA women with ARSA. Methods This retrospective study included 13,690 singleton pregnancies, were divided into AMA and non-AMA groups. Integrated obstetric ultrasonic screening, biochemical screening, noninvasive prenatal screening, and fetal karyotype analysis were analyzed. Results The overall incidence of ARSA was 0.69%, with no difference between age groups. The incidence of chromosomal abnormalities in the AMA group (37 / 2860) was much higher than that of the non-AMA group. The risk of chromosomal abnormalities significantly increased with both ARSA detected and additional ultrasound findings. With combined ARSA and AMA, the likelihood of the incidence of chromosomal abnormalities increased. Chimerism (45X / 46XX) was found with isolated ARSA in AMA pregnancies. Conclusion There is a high prevalence of chromosomal abnormalities in fetuses of AMA women. ARSA increases the risk of chromosomal abnormalities in both age groups, especially combined with ARSA. When ARSA occurs in AMA women, it confers a high likelihood of chromosomal abnormalities.

scholarly journals Transmission ratio distortion in the myotonic dystrophy locus in human preimplantation embryos

2006 ◽  
Vol 14 (3) ◽  
pp. 299-306 ◽  
Author(s):  
Nicola L Dean ◽  
J Concepción Loredo-Osti ◽  
T Mary Fujiwara ◽  
Kenneth Morgan ◽  
Seang Lin Tan ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Transmission Ratio Distortion ◽  
Preimplantation Embryos ◽  
Transmission Ratio ◽  
Ratio Distortion ◽  
Human Preimplantation Embryos
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