scholarly journals Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities

2012 ◽  
Vol 21 (7) ◽  
pp. 725-730 ◽  
Author(s):  
Francesco Fiorentino ◽  
Stefania Napoletano ◽  
Fiorina Caiazzo ◽  
Mariateresa Sessa ◽  
Sara Bono ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Chromosomal Abnormalities ◽  
A Priori ◽  
Low Risk ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
First Line ◽  
Line Test

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.

scholarly journals Clinical Application of Chromosomal Microarray Analysis for Fetuses with Craniofacial Malformations

2020 ◽  
Author(s):  
Chenyang Xu ◽  
Yanbao Xiang ◽  
Xueqin Xu ◽  
Lili Zhou ◽  
Huanzheng Li ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Genetic Basis ◽  
Chromosomal Abnormalities ◽  
Chromosome Analysis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Molecular Technique ◽  
Craniofacial Malformations ◽  
Pathogenic Cnvs ◽  
Clinically Significant

Abstract Background This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA) for prenatal diagnosis of craniofacial malformations (CFMs). We also investigated the potential correlations between chromosomal abnormalities and CFMs. To this end, 118 fetuses with CFMs were enrolled in the study and underwent both G-banded chromosome analysis and CMA. Results Of the 118 cases in this study, 39.8% were isolated CFMs (47/118) whereas 60.2% were non-isolated CFMs (71/118). The detection rate of chromosomal abnormalities or submicroscopic chromosomal abnormalities in non-isolated CFM fetuses was significantly higher than that in isolated CFM fetuses (26/71 vs. 7/47, p = 0.01). Compared to the 16 fetuses (16/104; 15.4%) with pathogenic chromosomal abnormalities detected by karyotype analysis, CMA identified a total of 33 fetuses (33/118; 28.0%) with clinically significant findings. These 33 fetuses included cases with aneuploidy abnormalities (14/118; 11.9%), microdeletion/microduplication syndromes (9/118; 7.6%), and other pathogenic CNVs only (10/118; 8.5%). We further explored the CNV/phenotype correlation and found a series of clear or suspected dosage-sensitive CFM genes. Conclusion CMA is a rapid and reliable molecular technique to identify fetal chromosomal aberrations associated with CFMs. Identification of the genetic basis of CFMs contributes to the understanding of their pathogenesis and etiology.

The study of chromosomal abnormalities in fetuses with ultrasound markers and malformations

2020 ◽  
pp. 62-63
Author(s):  
Ю.К. Киевская ◽  
И.В. Канивец ◽  
Д.В. Пьянков
Keyword(s):  
Microarray Analysis ◽  
Congenital Malformations ◽  
Chromosomal Abnormalities ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Snp Microarrays ◽  
Pathogenic Cnvs ◽  
Chromosome Imbalance ◽  
The Moment ◽  
Cytogenetic Methods

Микроделеционные и микродупликационные синдромы выявляются примерно у 8% плодов с врожденными пороками развития (ВПР), однако диагностика патогенных CNVs в пренатальном периоде в данный момент не регламентирована и зачастую основана на технических возможностях лаборатории. Представлены результаты исследования плодов, которые имели ВПР и/или маркеры хромосомной патологии, установленные по УЗИ, методом хромосомного микроматричного анализа (ХМА). В выборке (N=1048) у 10,3% плодов были обнаружены числовые аномалии хромосом и у 7,4% плодов были выявлены патогенные хромосомные аномалии, которые невозможно выявить при стандартном кариотипировани из-за их малого размера. Результаты нашего анализа согласуются с данными литературы, демонстрирующей большую эффективность SNP-микроматриц по сравнению с классическими цитогенетическими методами. Microdeletion and microduplication syndromes are detected in approximately 8% of fetuses with congenital malformations, however, the diagnosis of pathogenic CNVs in the prenatal period, at the moment, is unregulated and often based on the technical capabilities of the laboratory. The thesis presents the result of a study of fetuses that had congenital malformations and / or markers of chromosomal abnormalities, determined by ultrasound, by the method of chromosomal microarray analysis. Using chromosomal microarray analysis in our sample (N = 1048), numerical chromosome abnormalities were detected in 10.3% of the fetuses and pathogenic chromosome imbalance was revealed in 7.4% of the fetuses, which cannot be detected by standard karyotyping. The results of our analysis are consistent with the data of the scientific literature, which demonstrates the greater efficiency of using SNP microarrays in comparison with classical cytogenetic methods.

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.

scholarly journals Benefit versus risk of chromosomal microarray analysis performed in pregnancies with normal and positive prenatal screening results: A retrospective study

PLoS ONE ◽  
2021 ◽  
Vol 16 (4) ◽  
pp. e0250734
Author(s):  
Rami Moshonov ◽  
Keren Hod ◽  
Bella Azaria ◽  
Ifat Abadi-Korek ◽  
Rachel Berger ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Microarray Analysis ◽  
Prenatal Screening ◽  
Fetal Loss ◽  
Low Risk ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Entire Cohort ◽  
Genetic Abnormalities ◽  
Significant Difference

Background Most studies on chromosomal microarray analysis (CMA) and amniocentesis risks have not evaluated pregnancies with low risk for genetic diseases; therefore, the efficacy and safety of CMA and amniocentesis in this population are unclear. This study aimed to examine the benefits and risks of prenatal genetic diagnostic tests in pregnancies having low risk for chromosomal diseases. Methods and findings In this retrospective study, we used clinical data from a large database of 30,830 singleton pregnancies at gestational age 16–23 weeks who underwent amniocentesis for karyotyping with or without CMA. We collected socio-demographic, medical and obstetric information, along with prenatal screening, CMA and karyotyping results. Fetal loss events were also analysed. CMA was performed in 5,837 pregnancies with normal karyotype (CMA cohort). In this cohort, 4,174 women had normal prenatal screening results and the risk for identifying genetic abnormalities with >10% risk for intellectual disability by CMA was 1:102, with no significant difference between maternal age groups. The overall post-amniocentesis fetal loss rate was 1:1,401 for the entire cohort (n = 30,830) and 1:1,945 for the CMA cohort (n = 5,837). The main limitation of this study is the relatively short follow-up of 3 weeks, which may not have been sufficient for detecting all fetal loss events. Conclusion The low risk for post-amniocentesis fetal loss, compared to the rate of severe genetic abnormalities detected by CMA, suggests that even pregnant women with normal prenatal screening results should consider amniocentesis with CMA.

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