scholarly journals The Association of Clinical Characteristics With Cytogenetic Testing in Miscarriage Tissues: A Retrospective Review

2020 ◽  
Author(s):  
Chun Feng ◽  
Yan Yang ◽  
Xiao-Ling Tao ◽  
Xin Du ◽  
Jie Duan
Keyword(s):  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Clinical Factors ◽  
Trisomy 16 ◽  
Chi Squared ◽  
Positive Rate ◽  
Cytogenetic Testing ◽  
History Of

Abstract Background It is known little about to what extent the cytogenetic abnormalities association with clinical factors including maternal age, history of miscarriage, fertilization way and ultrasonographic finding in miscarriage tissues. A comprehensive investigation had informed to reveal the relevance of the profiles of these clinical factors of miscarriage with chromosomal abnormalities and propose feasible recommendations. Methods 478 cases of miscarriage tissue were performed by chromosomal microarray analysis between January 1, 2019, and December 31, 2019, the collected clinical data and the genetic findings were assessed using chi-squared analysis. Results 261 cases (54.7%) were identified as chromosomal abnormalities. Trisomy took place more frequency in advanced age of pregnancy women (p＜0.05), and it was closely related to the history of miscarriage. trisomy 16 (24.1%) was predominant in the ＜35 years group, whereas trisomy 15 (25.0%) was significantly more frequent in ≥35 years group. Trisomy 16, 15 and 13 were significantly more frequent in the first miscarriage, the second miscarriage and more than two times miscarriage, respectively. The positive rate in more than two times miscarriage in＜35 years group and ≥35 years group was 40.9% and 87.5%, respectively. More than two times miscarriages in ＜35 years was significantly difference with ≥35 years (P=0.02). Conclusion It is necessary to perform cytogenetic analysis to the miscarriage cases which are considered about the maternal age combined with history of miscarriage.

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

scholarly journals Follow-up in Patients With Non-invasive Prenatal Screening Failures: A Reflection on the Choice of Further Prenatal Diagnosis

2021 ◽  
Vol 12 ◽  
Author(s):  
Sha Liu ◽  
Hongqian Liu ◽  
Jianlong Liu ◽  
Ting Bai ◽  
Xiaosha Jing ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Detection Methods ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Non Invasive

BackgroundOur aim was to provide a theoretical basis for clinicians to conduct genetic counseling and choose further prenatal diagnosis methods for pregnant women who failed non-invasive prenatal screening (NIPS).MethodsA retrospective analysis was performed on pregnant women who had failed NIPS tests.ResultsAmong the 123,291 samples, 394 pregnant women did not obtain valid results due to test failures. A total of 378 pregnant women were available for follow-up, while 16 patients were lost to follow-up. Of these 378, 135 pregnant women chose further prenatal diagnosis through amniocentesis, and one case of dysplasia was recalled for postpartum chromosome testing. The incidence rate of congenital chromosomal abnormalities in those who failed the NIPS was 3.97% (15/378), which was higher than that of the chromosomal abnormalities in the common population (1.8%). Among the pregnant women who received prenatal diagnosis, the positive rates of chromosomal abnormalities in the chromosomal microarray analysis/copy number variation sequencing (CMA/CNV-seq) group and in the karyotyping group were 15.28 and 4.76%, respectively.ConclusionPrenatal diagnosis should be strongly recommended in posttest genetic counseling for pregnant women with NIPS failures. Further, high-resolution detection methods should be recommended for additional prenatal diagnoses.

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.

scholarly journals Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Haishan Peng ◽  
Jiexia Yang ◽  
Dongmei Wang ◽  
Fangfang Guo ◽  
Yaping Hou ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
False Positive ◽  
Case Reports ◽  
Screening Method ◽  
Prenatal Testing ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
True Positive ◽  
Trisomy 16

Abstract Background Trisomy 16 (T16) is thought to be the most frequent chromosome abnormality at conception, which is often associated with a high risk of abnormal outcomes. Methods A retrospective analysis of 14 cases with high risk of T16 by noninvasive prenatal testing (NIPT) was conducted. All cases in the analysis involved prenatal diagnosis, karyotyping and chromosomal microarray analysis. Case reports NIPT detected 12 cases of T16 and 2 cases of T16 mosaicism. Prenatal diagnosis confirmed 5 true positive cases and 9 false positive cases. Among the 5 true positive cases, 3 cases had ultrasound abnormalities. All of the 9 false positive cases continued their pregnancies. The newborns who were from these 9 false positive cases except 1 case (case 7) had low birth weights (< 2.5 kg) and there were also 2 premature deliveries. Conclusion NIPT serves as a fast and early prenatal screening method, giving clues to chromosome abnormalities and providing guidance for managing pregnancy. Confined placental mosaicism in 16 pregnancies may be at higher risk for preterm delivery.

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.

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