scholarly journals Clinical Application of Chromosomal Microarray Analysis in Pregnant Women with Advanced Maternal Age and Fetuses with Ultrasonographic Soft Markers

2021 ◽  
Vol 27 ◽  
Author(s):  
Zhu-Ming Hu ◽  
Lei-Lei Li ◽  
Han Zhang ◽  
Hong-Guo Zhang ◽  
Rui-Zhi Liu ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Clinical Application ◽  
Microarray Analysis ◽  
Maternal Age ◽  
Advanced Maternal Age ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

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 Application of Chromosome Microarray Analysis and Karyotype Analysis in Diagnostic Assessment of Abnormal Down's Syndrome Screening Results

2021 ◽  
Author(s):  
Han Kang ◽  
Lingxi Wang ◽  
Xingyu Li ◽  
Chonglan Gao ◽  
Yamei Xie ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Microarray Analysis ◽  
Sex Chromosome ◽  
Karyotype Analysis ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Balanced Translocation

Abstract Background: Although screening for fetal aneuploidy with the use of cell-free DNA obtained from maternal plasma is highly effective, biomarkers screening is in extensive use in economically underdeveloped areas and poor population. This study aims to explore the application value of chromosomal microarray analysis (CMA) and karyotype analysis in prenatal diagnosis for pregnant women with abnormal Down’s syndrome (DS) screening results.Methods: The study recruited 813 pregnant women with abnormal DS screening results from Chengdu Women’s and Children’s Central Hospital. They underwent amniocentesis to obtain fetal amniotic fluid for CMA and G-band karyotype analysis. An Affymetrix CytoScan 750 K Array chip was used for CMA analysis according to the manufacturer’s instructions.Results: In total, CMA identified 21/813 abnormal results, which was more efficient than karyotype analysis(10/813, P<0.001.) CMA is equivalent to traditional karyotype analysis for the prenatal diagnosis of aneuploidies. However, CMA identified 1.60% more copy number variants(CNVs) than karyotype analysis. These pathogenic/likely pathogenic(P/LP) CNVs ranged from 159Kb deletion to 3616Kb deletion. 53.8% of them were recurrent pathogenic CNVs associated with risk of neurodevelopmental disorders. CMA identified 7 variants of uncertain significance (VUS) results, including 6 microduplication and 1 microdeletion, with the size ranged from 840kb-1484kb. Karyotype analysis identified 2 mosaic sex chromosome aneuploidy, 2 balanced translocation and 1 mosaic balanced translocation, which could not be identified by CMA. Conclusions: Performing both CMA and karyotype analysis simultaneously is more beneficial to pregnant women with abnormal DS screening results.

Advanced Maternal Age and Adverse Maternal and Neonatal Outcomes in Pregnant Women

2020 ◽  
Vol 16 ◽  
Author(s):  
Reza Omani-Samani ◽  
Saman Maroufizadeh ◽  
Nafise Saedi ◽  
Nasim Shokouhi ◽  
Arezoo Esmailzadeh ◽  
...  
Keyword(s):  
Birth Weight ◽  
Preterm Birth ◽  
Low Birth Weight ◽  
Cesarean Section ◽  
Pregnant Women ◽  
Maternal Age ◽  
Unwanted Pregnancy ◽  
Advanced Maternal Age ◽  
Neonatal Outcomes ◽  
Maternal And Neonatal Outcomes

Background: Advanced maternal age is an important predictor for maternal and neonatal outcomes such as maternal mortality, low birth weight, stillbirth, preterm birth, cesarean section and preeclampsia. Objective: To determine the association of advanced maternal age and adverse maternal and neonatal outcomes in Iranian pregnant women. Methods: In this hospital-based cross-sectional study, 5117 pregnant women from 103 hospitals in Tehran, Iran, were participated in the study in 2015. The required data were gathered from hospitals which equipped to the department of obstetrics and gynecology. Advanced maternal age was considered as an independent variable and unwanted pregnancy, preeclampsia, preterm birth, cesarean section and low birth weight were considered as interested outcomes. Results: In our study, the prevalence of advanced maternal age was 12.08%. Advanced maternal age was significantly associated with higher risk of unwanted pregnancy (OR: 1.39, 95% CI: 1.12-1.73), preterm birth (OR: 1.75, 95% CI: 1.28- 2.39) and cesarean section (OR: 1.34, 95% CI: 1.03-1.74). In our study, there was no significant relationship between advanced maternal age and preeclampsia but this relationship could be clinically important (OR: 1.48, 95% CI: 0.99-2.20, P=0.052), and there is no significant relationship between advanced maternal age and low birth weight (OR: 1.08, 95% CI: 0.67-1.74, P=0.736). Conclusion: Advanced maternal age is associated with higher risk of unintended pregnancy, preterm birth and cesarean section but our findings did not support advanced maternal age as a risk factor associated with low birth weight.

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