The role of fetal chromosomal aberrations in the genesis of recurrent and sporadic miscarriage

2021 ◽  
Vol 20 (1) ◽  
pp. 34-39
Author(s):  
E.V.Kudryavtseva E.V.Kudryavtseva ◽  
◽  
V.V.Kovalev V.V.Kovalev ◽  
I.I.Baranov I.I.Baranov ◽  
I.V.Kanivets I.V.Kanivets ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Microarray Analysis ◽  
Pregnancy Loss ◽  
Chromosomal Abnormalities ◽  
Recurrent Miscarriage ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Key Words Pregnancy ◽  
History Of

Objective. To compare the frequency and nature of embryo/fetus chromosomal abnormalities (CA) in sporadic and recurrent pregnancy loss. Patients and methods. A retrospective cohort study that included 1000 patients with pregnancy loss at 6–12 weeks of gestation. The first group consisted of 681 patients who had their first sporadic miscarriage. The second group consisted of 319 patients who previously had a miscarriage. Chromosomal microarray analysis (CMA) of abortive material was performed. Results. In the first group, various chromosomal abnormalities in the embryo/fetus were detected in 378 (55.5%) samples, in the second group – in 203 (63.5%). The incidence of CA in patients with a history of miscarriage was higher than in sporadic miscarriage, the differences were statistically reliable (p = 0.015). No significant differences were found in the structure of CA. Autosomal trisomies and numerical abnormalities of sex chromosomes were most frequently detected. Conclusion. Chromosomal abnormalities in the embryo are a significant cause of miscarriage, both sporadic and recurrent. Genetic analysis of abortive material is an important component of the examination for choosing further management tactics for patients. CMA is an effective research method when conducting genetic analysis of conception products. Key words: pregnancy loss, preconception planning, recurrent miscarriage, chromosomal abnormalities, chromosomal microarray analysis

The chromosomal microarray analysis of abortive material in pregnancy loss

2020 ◽  
pp. 64-65
Author(s):  
Е.Г. Панченко ◽  
И.В. Канивец ◽  
И.И. Романова ◽  
Ю.К. Киевская ◽  
Е.В. Кудрявцева ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Pregnancy Loss ◽  
Chromosomal Abnormalities ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Routine Method ◽  
Study Objective ◽  
Analysis Study ◽  
Products Of Conception ◽  
Study Results

Цель исследования - оценить распространенность и типы хромосомных аномалий (ХА) в абортивном материале за период с 2015 по 2019 гг. Методом хромосомного микроматричного анализа был исследован 2201 образец ДНК, выделенной из абортивного материала при неразвивающейся беременности. ХА были обнаружены в 49,57% случаев, из них анеуплоидии, в том числе нескольких хромосом и мозаичные формы, составляют 79,65%, триплоидия - 10,72%, другие ХА, возможно имеющие клиническое значение, - 8,62%, тетраплоидия - 1,01%. Таким образом, хромосомный микроматричный анализ может быть рекомендован как рутинный метод для поиска несбалансированных ХА в абортивном материале при невынашивании беременности. Study objective is to assess the prevalence and pattern of chromosomal abnormalities (CAs) in products of conception (POC) for the period from 2015 to 2019. Materials and Methods: 2201 samples of POC were studied by the chromosomal microarray analysis. Study Results: CAs were detected in 49.57% of cases, of which aneuploidy, including several chromosomal and mosaic forms, were detected in 79.65%, triploidy - 10.72%, other CAs with possible clinical significance - 8.62%, tetraploidy - 1.01%. Conclusion: chromosomal microarray analysis can be recommended as a routine method for searching of unbalanced CAs in POC.

Chromosomal microarray analysis of miscarriage products in recurrent pregnancy loss

2016 ◽  
Vol 106 (3) ◽  
pp. e374
Author(s):  
D. Bar-Avin Dayan ◽  
S. Rienstein ◽  
H. Yonath ◽  
E. Guetta ◽  
E. Pras ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

Fraternal Twins With Autism, Severe Cognitive Deficit, and Epilepsy: Diagnostic Role of Chromosomal Microarray Analysis

2014 ◽  
Vol 21 (2) ◽  
pp. 167-171 ◽  
Author(s):  
Jaime Imitola ◽  
Diana Walleigh ◽  
Carol E. Anderson ◽  
Reena Jethva ◽  
Karen S. Carvalho ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Cognitive Deficit ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Diagnostic Role

131: Chromosomal microarray analysis (CMA) vs karyotype in the evaluation of early pregnancy loss

2014 ◽  
Vol 210 (1) ◽  
pp. S79
Author(s):  
Stephanie Romero ◽  
Katherine Geiersbach ◽  
Christian Paxton ◽  
Enrique Schisterman ◽  
Angela Presson ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Early Pregnancy ◽  
Pregnancy Loss ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Early Pregnancy Loss

scholarly journals Diagnostic accuracy and value of chromosomal microarray analysis for chromosomal abnormalities in prenatal detection: a prospective clinical study

2020 ◽  
Author(s):  
Hailong Huang ◽  
Yan Wang ◽  
Min Zhang ◽  
Na Lin ◽  
Gang An ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Microarray Analysis ◽  
Operating Characteristic ◽  
Chromosomal Abnormalities ◽  
Area Under The Curve ◽  
Diagnostic Value ◽  
Chromosomal Microarray ◽  
Prospective Clinical Study ◽  
Chromosomal Microarray Analysis ◽  
Success Rates

Abstract Background Chromosomal microarray analysis (CMA) has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. The aim of this study was to compare the accuracy and diagnostic value of CMA and karyotyping on chromosomal abnormalities in Fujian province of South China. Methods In the study, 410 samples were obtained from pregnant women between March 2015 and December 2016, including 3 villus (0.73%, 3/410), 296 amniotic fluid (72.20%, 296/410), and 111 umbilical cord blood (27.07%, 111/410). Each sample was screening for chromosomal abnormalities by both using CMA and karyotyping. Results The success rates of CMA and karyotyping were 100% (410/410) and 99.27% (407/410), respectively. 61 (14.88%, 61/410) samples were presented with chromosomal abnormalities using CMA, whereas 47 (11.46%, 47/410) samples were shown with chromosomal abnormalities using karyotyping. 31 (7.56%, 31/410) samples with normal karyotypes were found to have chromosomal abnormalities using CMA. Receiver operating characteristic (ROC) analysis showed that the area under the curve (AUC) of CMA on the diagnosis of chromosomal abnormalities was 0.93, with 90.68% sensitivity and 94.40% specificity. The AUC of karyotyping on the diagnosis of chromosomal abnormalities was 0.90, with 87.56% sensitivity and 91.22% specificity. Conclusions Our data demonstrated that CMA has a better diagnostic value for screening chromosomal abnormalities, especially for pregnant women with normal karyotypes.

scholarly journals The Genetic Etiology Diagnosis of Fetal Growth Restriction Using Single-Nucleotide Polymorphism-Based Chromosomal Microarray Analysis

2021 ◽  
Vol 9 ◽  
Author(s):  
Yu'e Chen ◽  
Yingjun Xie ◽  
Yuying Jiang ◽  
Qi Luo ◽  
Lijing Shi ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Microarray Analysis ◽  
Fetal Growth ◽  
Fetal Growth Restriction ◽  
Detection Rate ◽  
Chromosomal Abnormalities ◽  
Karyotype Analysis ◽  
Growth Restriction ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

Background: An increase in pathogenic copy number variants (pCNVs) has been recognized to associate with fetal growth restriction (FGR). Here, we aim to explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis of FGR.Methods: Prenatal ultrasound was applied to identify FGR. A total of 149 pregnant women with FGR were enrolled in our study. All subjects underwent karyotype analysis and CMA to reveal the chromosomal abnormalities.Results: In this study, all subjects were successfully detected by karyotype and CMA analyses. Of these subjects, the chromosomal abnormalities detection rate was 5.37% (8/149) for karyotyping and 13.42% (20/149) for CMA, respectively. Among them, an 8.05% (12/149) incremental yield of CMA over karyotype analysis was observed (p = 0.004). In addition, a significant difference of pCNV detection rate was observed between the groups with different high-risk factors (p = 0.005). The FGR with structural anomalies group showed the highest pCNV detection rate (33.33%), followed by the FGR with non-structural anomalies group (8.77%) and the isolated FGR group (8.06%).Conclusion: In conclusion, CMA technology showed an effective application value in etiology diagnosis of FGR. We believe that CMA should be recommended as first-line detection technology for prenatal diagnosis in FGR.

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