Chromosomal mosaicism detected by karyotyping and chromosomal microarray analysis in prenatal diagnosis

Zhang, Yi; Zhong, Ming; Zheng, Dezhong

doi:10.1111/jcmm.16080

Cited by 28 publications

(27 citation statements)

References 30 publications

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“…For the mosaic balanced translocation, although CMA result was normal, we couldn't discriminate it between truly balanced and unbalance. [13] In this study, we used CMA(SNP array platform) and karyotype analysis for prenatal diagnosis of pregnant women with abnormal DS screening results. CMA is equivalent to traditional karyotype analysis for the prenatal diagnosis of aneuploidies.…”

Section: Overall Resultsmentioning

confidence: 99%

“…CNVs are determined by measuring the absolute uorescence probe intensities of the patient sample compared with the intensities of multiple normal controls. [13] In this study, we used CMA(SNP array platform) and karyotype analysis for prenatal diagnosis of pregnant women with abnormal DS screening results. CMA is equivalent to traditional karyotype analysis for the prenatal diagnosis of aneuploidies.…”

Section: Discussionmentioning

confidence: 99%

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

Kang

Wang

et al. 2021

Preprint

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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.

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Section: Overall Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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

Kang

Wang

et al. 2021

Preprint

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“…CMA is a molecular genetics technique developed in recent years. 34 CMA has signi cant advantages because it can detect chromosome microdeletions or microduplications that cannot be detected by conventional karyotype analysis at the genome level. [35][36][37] However, CMA cannot detect balanced structural translocation and low proportion chimerism.…”

Section: Discussionmentioning

confidence: 99%

The Value of Non-Invasive Prenatal Testing in the Diagnosis of Birth Defects: Insights from a Large Multicentre Study in Southern China

Cai

Lin

Chen

et al. 2021

Preprint

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Non-invasive prenatal testing (NIPT) is a fast, safe, and non-disruptive diagnostic method. At present, few studies have evaluated the screening efficiency of NIPT positive predictive value (PPV) in study subjects. Here, the results of NIPT in pregnant women were retrospectively analysed, and the detection rate, PPV and follow-up data were evaluated to determine its clinical value. A large multicentre study was conducted involving 52,855 pregnant women who received NIPT. Based on gestational age, amniotic fluid or umbilical cord blood were extracted for simultaneous karyotype and chromosome microarray analysis (CMA) in NIPT-positive patients. Among the 52,855 cases, 754 were NIPT-positive, with a positivity rate of 1.4%. Karyotype analysis and/or CMA confirmed 323 cases of chromosomal abnormalities, with a PPV of 45.1%. PPV of Trisomy 21 (T21), Trisomy 18 (T18), Trisomy 13 (T13), sex chromosomal aneuploidies (SCA) and copy number variations (CNV) were 78.9%, 35.3%, 22.2%, 36.9% and 32.9%, respectively. The PPV of T21, T18, and T13 increased with age whereas, the PPV of SCA and CNVs had little correlation with age. The PPV was significantly high in patients with advanced age along with an abnormal ultrasound.NIPT had a high PPV for T21, and a low PPV for T13 and T18, while screening for SCA and CNVs showed clinical significance. However, in case of NIPT screening for SCA and CNVs, simultaneous karyotype and CMA should be performed to increase the detection rates. Interventional prenatal diagnosis is still required in NIPT-positive cases to avoid false positives or unnecessary termination of pregnancy.

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“…Genetic factors that cause FGR have rarely been reported, and some studies that reported a genetic association were conducted with small sample sizes [ 5 ]. Single-nucleotide polymorphism array (SNP-array) can detect copy number variations (CNVs) at a genome-wide level, as well as chimeras (> 30%), loss of heterozygosity, and uniparental disomy (UPD) [ 6 , 7 ]. SNP-array has been widely used in the diagnosis of fetal structural malformations, primary mental retardation, growth and developmental retardation, autism, and tumors [ 8 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

Fetal growth restriction: associated genetic etiology and pregnancy outcomes in a tertiary referral center

Cai

Lin

et al. 2022

J Transl Med

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Background The etiology of fetal growth restriction (FGR) is complex and currently, there is a paucity of research about the genetic etiology of fetal growth restriction. We investigated the genetic associations and pregnancy outcomes in cases of fetal growth restriction. Methods A retrospective analysis of 210 pregnant women with fetal growth restriction was performed using karyotype analysis and single nucleotide polymorphism arrays (SNP-array). The differences in pathogenic copy number variation (CNV) detected by the two methods were compared. At the same time, the fetuses were divided into three groups: isolated FGR (n = 117), FGR with ultrasonographic soft markers (n = 48), and FGR with ultrasonographic structural anomalies (n = 45). Further, the differences in pathogenic copy number variations were compared among the groups. Results The total detection rate of pathogenic CNVs was 12.4% (26/210). Pathogenic copy number variation was detected in 14 cases (6.7%, 14/210) by karyotype analysis. Furthermore, 25 cases (11.9%, 25/210) with pathogenic CNVs were detected using the SNP-array evaluation method. The difference in the pathogenic CNV detection rate between the two methods was statistically significant. The result of the karyotype analysis and SNP-array evaluation was inconsistent for 13 cases with pathogenic CNV. The rate of detecting pathogenic CNVs in fetuses with isolated FGR, FGR combined with ultrasonographic soft markers, and FGR combined with ultrasonographic structural malformations was 6.0, 10.4, and 31.1%, respectively, with significant differences among the groups. During the follow-up, 35 pregnancies were terminated, two abortions occurred, and 13 cases were lost to follow-up. Of the 160 deliveries, nine fetuses had adverse pregnancy outcomes, and the remaining 151 had normal postnatal growth and developmental assessments. Conclusions Early diagnosis and timely genomic testing for fetal growth restriction can aid in its perinatal prognosis and subsequent intervention.

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Chromosomal mosaicism detected by karyotyping and chromosomal microarray analysis in prenatal diagnosis

Cited by 28 publications

References 30 publications

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

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

The Value of Non-Invasive Prenatal Testing in the Diagnosis of Birth Defects: Insights from a Large Multicentre Study in Southern China

Fetal growth restriction: associated genetic etiology and pregnancy outcomes in a tertiary referral center

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