scholarly journals Overview of Chromosome Abnormalities in First Trimester Miscarriages: A Series of 1,011 Consecutive Chorionic Villi Sample Karyotypes

2017 ◽  
Vol 152 (2) ◽  
pp. 81-89 ◽  
Author(s):  
Anna Soler ◽  
Carme Morales ◽  
Irene Mademont-Soler ◽  
Ester Margarit ◽  
Antoni Borrell ◽  
...  
Keyword(s):  
Maternal Age ◽  
First Trimester ◽  
Chromosome Abnormalities ◽  
Chorionic Villi ◽  
Autosomal Trisomy ◽  
Different Types ◽  
Placental Mosaicism ◽  
Short Term Culture ◽  
Maternal Contamination

In order to contribute to the knowledge of type and frequency of chromosome abnormalities in early pregnancy losses, we analyzed the cytogenetic results from a large series of first trimester miscarriages, using a diagnostic approach with a high success rate and no maternal contamination. A total of 1,119 consecutive chorionic villi samples were obtained before evacuation, and karyotypes were prepared after short-term culture (STC). In 603 samples, a long-term culture (LTC) was also performed. The overall and individual frequencies of the different types of chromosome abnormalities were established, including placental mosaicisms, and their relationship with maternal age and gestational weeks was assessed. An abnormal karyotype was detected in 70.3% of the samples. Single autosomal trisomy was the most frequent abnormality (64.6% of the abnormal cases), followed by triploidy (13.1%) and monosomy X (10.4%). Chromosome rearrangements were found in 5.2%, combined abnormalities in 8.9%, and placental mosaicism in 3.5% of the cases with STC and LTC performed. Individual trisomies behaved differently with respect to maternal age and intrauterine survival. Due to the combination of STC and LTC, our study offers reliable information on the incidence and type of chromosome abnormalities and placental mosaicism in miscarriages and contributes to define the cytogenetic implication in their etiology.

scholarly journals Confined placental mosaicism in short term culture

Genetika ◽  
2016 ◽  
Vol 48 (3) ◽  
pp. 955-961
Author(s):  
Bojana Petrovic ◽  
Jelena Dukanac-Stamenkovic
Keyword(s):  
Genetic Counseling ◽  
Perinatal Care ◽  
Chromosome Analysis ◽  
Chromosomal Mosaicism ◽  
Special Importance ◽  
Short Term ◽  
Chorionic Villi ◽  
Additional Chromosome ◽  
Placental Mosaicism ◽  
Short Term Culture

Finding of fetal chromosomal mosaicism complicates genetic counseling, as well as pregnancy management. The aim of this study was to determine the risk of confined placental mosaicism in short term culture of chorionic villous samples. We conducted a retrospective review of karyotype analysis results obtained after chorionic villous sampling (CVS) in two years period. A 420 samples of chorionic villi were taken transabdominally and obtained by a semidirect method (overnight incubating culture). All fetuses with CVS mosaicism were under the intensive perinatal care. In all cases of chromosome mosaicism the additional karyotyping was performed from fetal blood samples after 22nd gestational week in order to exclude true fetal mosaicism. After delivery newborns were examined by experienced pediatrician. From 420 analyzed samples in 11 (2,6%) cases we found placental mosaicism. No anomalies were seen in genetic sonogram of this fetuses and mosaicism was confirmed only in one case. Confined placental mosaicism (CPM) was found in 2,1% (9/420) of all analyzed cases, and it made 90% of all placental mosaicism. In 60% (6/10) of placental mosaicism cases we found mosaicism with single aberrant cell. Trisomy 21 mosaicism was the most frequent aberration found in 30% of cases. Finding of mosaicism in chorionic villi sample is at special importance for genetic counseling, because every case has to be reveled individually regarding the type and level of mosaicism. Anyway, in every case of placental mosaicism intensive antenatal monitoring is necessary, with additional chromosome analysis from different tissue in consideration of previous findings.

scholarly journals Chromosomal Aneuploidy Associated With Clinical Characteristics of Pregnancy Loss

2021 ◽  
Vol 12 ◽  
Author(s):  
Chongjuan Gu ◽  
Kuanrong Li ◽  
Ru Li ◽  
Ling Li ◽  
Xiaojun Li ◽  
...  
Keyword(s):  
Clinical Features ◽  
Maternal Age ◽  
Clinical Characteristics ◽  
Pregnancy Loss ◽  
Sex Chromosome ◽  
Yolk Sac ◽  
Chromosome Abnormalities ◽  
Autosomal Trisomy ◽  
Chromosomal Aneuploidy ◽  
Sex Chromosome Abnormalities

ObjectiveEmbryonic aneuploidy is found in about half of sporadic pregnancy losses and the associations between the chromosomal aneuploidy and clinical characteristics of pregnancy loss remain unclear. The aims of this study were to evaluate the associations between chromosomal aneuploidy of products of conception (POC) and clinical features of pregnancy loss.MethodsWe conducted a retrospective cohort study including 1,102 women experienced singleton pregnancy loss and underwent chromosomal microarray analysis (CMA) detection of POC in our hospital. The results of molecular karyotypes and clinical features including maternal age, history of pregnancy loss, gestational age, vaginal bleeding and ultrasonographic findings were extracted from the medical records. χ2 test was used to compare categorical data between groups.Results631 (57.26%) POC specimens were detected to be chromosomal aneuploidy. Aneuploid rates were significantly higher in women >35 years (P < 0.001) and pregnancy loss <11 gestational weeks (P = 0.044), but the rates of sex chromosome abnormalities and triploid were significantly higher in women ≤35 years (P < 0.001, P = 0.002) and the rates of viable autosomal trisomy and sex chromosome abnormalities were significantly high in those women with pregnancy loss ≥11 weeks (P < 0.001, P < 0.001). Aneuploid rate was overall similar between the sporadic and the recurrent pregnancy loss (RPL) (P = 0.404), but the rate of sex chromosome abnormalities was higher in women with sporadic pregnancy loss (P = 0.03). Aneuploid rates were higher in subjects with yolk sac or embryo than in those without (P < 0.001 and P = 0.001).ConclusionAdvanced maternal age is mainly associated with autosomal trisomy, while sex chromosome abnormalities and triploid might be more likely to occur in younger women. Aneuploidy rates might be no association with previous pregnancy loss except for sex chromosome abnormalities. Pregnancy loss without yolk sac or embryo might be less related to embryonic aneuploidy, and other factors should be emphasized.

Incidence and Spectrum of Chromosome Abnormalities in Miscarriage Samples: A Retrospective Study of 330 Cases

2019 ◽  
Vol 158 (4) ◽  
pp. 171-183 ◽  
Author(s):  
Cristina Gug ◽  
Adrian Rațiu ◽  
Dan Navolan ◽  
Ioan Drăgan ◽  
Iulia-Maria Groza ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Chorionic Villus ◽  
Normal Karyotype ◽  
Chromosome Abnormalities ◽  
Pcr Analysis ◽  
Chromosomal Anomalies ◽  
Spontaneous Abortions ◽  
Chorionic Villi ◽  
Western Romania

Embryonic chromosome abnormalities are the most important causes of early spontaneous abortions. The aim of this study was to evaluate the spectrum and the frequencies of chromosomal anomalies in spontaneous miscarriages and to correlate these with maternal and gestational age. A retrospective study was conducted based on data obtained from a single medical genetics laboratory that collects cases from Western Romania. Long-term cultures of chorionic villus samples were established for karyotype analysis by GTG banding. Additionally, we performed QF-PCR to detect aneuploidies for chromosomes 13, 18, 21, X, and Y. In total, chorionic villi samples of 330 miscarriages (from August 2007 to November 2018) were analyzed. Results were obtained for 90.6% (299/330) of the cases. The remaining 9.4% (31/330) were excluded from evaluation due to inconclusive results. An abnormal karyotype was found in 156 cases (47.27%), while in 143 cases (43.33%) a normal karyotype was present. Of the abnormal cases, 88 (56.4%) had trisomies, 25 (16.0%) presented polyploidies, 25 (16.0%) had monosomy X, and 19 (11.5%) chromosome rearrangements. QF-PCR analysis identified aneuploidy in 2 out of 8 samples (25%). Cytogenetic investigations of spontaneous abortions provide valid data as to the cause of the abortion. This information may also be helpful for genetic counseling and considering future pregnancies.

The Acute Effect of Alcohol on Various Memory Processes

2010 ◽  
Vol 24 (4) ◽  
pp. 249-252 ◽  
Author(s):  
Márk Molnár ◽  
Roland Boha ◽  
Balázs Czigler ◽  
Zsófia Anna Gaál
Keyword(s):  
Low Dose ◽  
Short Term Memory ◽  
Acute Effect ◽  
Long Term Memory ◽  
Term Memory ◽  
Memory Processes ◽  
Different Types ◽  
The Brain ◽  
Legal Consequences

This review surveys relevant and recent data of the pertinent literature regarding the acute effect of alcohol on various kinds of memory processes with special emphasis on working memory. The characteristics of different types of long-term memory (LTM) and short-term memory (STM) processes are summarized with an attempt to relate these to various structures in the brain. LTM is typically impaired by chronic alcohol intake but according to some data a single dose of ethanol may have long lasting effects if administered at a critically important age. The most commonly seen deleterious acute effect of alcohol to STM appears following large doses of ethanol in conditions of “binge drinking” causing the “blackout” phenomenon. However, with the application of various techniques and well-structured behavioral paradigms it is possible to detect, albeit occasionally, subtle changes of cognitive processes even as a result of a low dose of alcohol. These data may be important for the consideration of legal consequences of low-dose ethanol intake in conditions such as driving, etc.

Effect of sleep on memory for binding different types of visual information

2020 ◽  
Author(s):  
John J Shaw ◽  
Zhisen Urgolites ◽  
Padraic Monaghan
Keyword(s):  
Visual Information ◽  
Storage Capacity ◽  
Declarative Memory ◽  
Recognition Task ◽  
Forced Choice ◽  
Long Term Memory ◽  
Term Memory ◽  
Different Types ◽  
Types Of Information

Visual long-term memory has a large and detailed storage capacity for individual scenes, objects, and actions. However, memory for combinations of actions and scenes is poorer, suggesting difficulty in binding this information together. Sleep can enhance declarative memory of information, but whether sleep can also boost memory for binding information and whether the effect is general across different types of information is not yet known. Experiments 1 to 3 tested effects of sleep on binding actions and scenes, and Experiments 4 and 5 tested binding of objects and scenes. Participants viewed composites and were tested 12-hours later after a delay consisting of sleep (9pm-9am) or wake (9am-9pm), on an alternative forced choice recognition task. For action-scene composites, memory was relatively poor with no significant effect of sleep. For object-scene composites sleep did improve memory. Sleep can promote binding in memory, depending on the type of information to be combined.

scholarly journals Toxic or Not Toxic, That Is the Carbon Quantum Dot’s Question: A Comprehensive Evaluation with Zebrafish Embryo, Eleutheroembryo, and Adult Models

Polymers ◽  
2021 ◽  
Vol 13 (10) ◽  
pp. 1598
Author(s):  
Chih-Yu Chung ◽  
Yu-Ju Chen ◽  
Chia-Hui Kang ◽  
Hung-Yun Lin ◽  
Chih-Ching Huang ◽  
...  
Keyword(s):  
Zebrafish Embryo ◽  
Comprehensive Evaluation ◽  
Aquatic Organisms ◽  
Carbon Quantum Dots ◽  
Adult Zebrafish ◽  
Fish Embryo ◽  
Wide Range ◽  
Different Types ◽  
Low Toxicity

Carbon quantum dots (CQDs) are emerging novel nanomaterials with a wide range of applications and high biocompatibility. However, there is a lack of in-depth research on whether CQDs can cause acute or long-term adverse reactions in aquatic organisms. In this study, two different types of CQDs prepared by ammonia citrate and spermidine, namely CQDAC and CQDSpd, were used to evaluate their biocompatibilities. In the fish embryo acute toxicity test (FET), the LD50 of CQDAC and CQDSpd was about 500 and 100 ppm. During the stage of eleutheroembryo, the LD50 decreased to 340 and 55 ppm, respectively. However, both CQDs were quickly eliminated from embryo and eleutheroembryo, indicating a lack of bioaccumulation. Long-term accumulation of CQDs was also performed in this study, and adult zebrafish showed no adverse effects in 12 weeks. In addition, there was no difference in the hatchability and deformity rates of offspring produced by adult zebrafish, regardless of whether they were fed CQDs or not. The results showed that both CQDAC and CQDSpd have low toxicity and bioaccumulation to zebrafish. Moreover, the toxicity assay developed in this study provides a comprehensive platform to assess the impacts of CQDs on aquatic organisms in the future.

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