scholarly journals Clinical Utility of the Prenatal BACs-on-Beads™ Assay in Invasive Prenatal Diagnosis

2022 ◽  
Vol 12 ◽  
Author(s):  
Yu Jiang ◽  
Lili Wu ◽  
Yunshen Ge ◽  
Jian Zhang ◽  
Yanru Huang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Copy Number Variation ◽  
Copy Number ◽  
Clinical Utility ◽  
Clinical Pathways ◽  
Normal Karyotype ◽  
Fetal Ultrasound ◽  
Prenatal Diagnostic ◽  
Diagnostic Center ◽  
Number Variation

Background: The prenatal BACs-on-Beads™ (PNBoBs™) assay has been applied worldwide for prenatal diagnosis. However, there are neither guidelines nor consensus on choosing patients, sample types, or clinical pathways for using this technique. Moreover, different perspectives have emerged regarding its clinical value. This study aimed to evaluate its clinical utility in the context of clinical practice located in a prenatal diagnostic center in Xiamen, a city in southeast China.Methods: We tested 2,368 prenatal samples with multiple referral indications using both conventional karyotyping and PNBoBs™. Positive results from PNBoBs™ were verified using current gold-standard approaches.Results: The overall rates for the detection of pathogenic copy number variation (pCNV) by karyotyping and PNBoBs™ were 1.9% (46/2,368) and 2.0% (48/2,368), respectively. The overall detection rate of karyotyping combined with PNBoBs™ for pCNV was 2.3% (54/2,368). A total of 13 cases of copy number variation (CNV)with a normal karyotype were detected by PNBoBs™. Another case with a normal karyotype that was detected as a CNV of sex chromosomes by PNBoBs™ was validated to be maternal cell contamination by short tandem repeat analysis.Conclusion: Karyotyping combined with PNBoBs™ can improve both the yield and efficiency of prenatal diagnosis and is appropriate in the second trimester in all patients without fetal ultrasound anomalies who undergo invasive prenatal diagnosis.

scholarly journals 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

2010 ◽  
Vol 3 (1) ◽  
pp. 3 ◽  
Author(s):  
John CK Barber ◽  
Dave Bunyan ◽  
Merryl Curtis ◽  
Denise Robinson ◽  
Susanne Morlot ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Copy Number Variation ◽  
Copy Number ◽  
Number Variation ◽  
Duplication Syndrome

scholarly journals Prenatal diagnosis of 913 fetuses samples using copy number variation sequencing

2021 ◽  
Author(s):  
Liubing Lan ◽  
Lingna She ◽  
Bosen Zhang ◽  
Yanhong He ◽  
Zhiyuan Zheng
Keyword(s):  
Prenatal Diagnosis ◽  
Copy Number Variation ◽  
Copy Number ◽  
Number Variation

scholarly journals Validation of a multi-gene qPCR-based pharmacogenomics panel across major ethnic groups in Singapore and Indonesia

2021 ◽  
Author(s):  
Anar Sanjaykumar Kothary ◽  
Caroline Mahendra ◽  
Mingchen Tan ◽  
Eunice Jia Min Tan ◽  
Jacelyn Hong Yi Phua ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Ethnic Groups ◽  
Copy Number ◽  
Clinical Utility ◽  
Genetic Associations ◽  
Drug Reactions ◽  
Buccal Swabs ◽  
Number Variation ◽  
Precision And Accuracy ◽  
Precision Rate

Background: With up to 70% of adverse drug reactions (ADRs) having high genetic associations, the clinical utility of pharmacogenomics (PGx) has been gaining traction. Nala PGx Core is a multi-gene qPCR-based panel that comprises 18 variants and 2 CYP2D6 Copy Number markers across 4 pharmacogenes - CYP2C9, CYP2C19, CYP2D6 and SLCO1B1. Objectives: In this study, we validated the performance of Nala PGx Core against benchmark methods, on the Singaporean and Indonesian populations. Additionally, we examined the allele and diplotype frequencies across 5 major ethnic groups present in these populations namely, Indonesians, Chinese, Malays, Indians and Caucasians. Methods: Human gDNA samples, extracted from the buccal swabs of 246 participants, were tested on Nala PGx Core and two chosen benchmarks, Agena VeriDose Core and CYP2D6 Copy Number Variation (CNV) Panel, and TaqMan DME Genotyping Assays. Performance was evaluated based on assay robustness, precision and accuracy at the genotype- and diplotype-level. Results: Nala PGx Core demonstrated high genotype- and diplotype-level call rates of >97% and >95% respectively in CYP2D6, and 100% for CYP2C9, CYP2C19 and SLCO1B1. A precision rate of 100% was observed on both intra- and inter-precision studies. Variant-level concordance to the benchmark methods was >96.9% across all assays, which consequently resulted in a diplotype-level concordance of >94.7% across CYP2C9, CYP2C19 and CYP2D6. Overall, the allele frequencies of CYP2D6*10 and CYP2D6*36 were higher in our cohort as compared to previous records. Notably, CYP2D6 copy number variation (CNV) analysis demonstrated a CYP2D6 *10/*36 frequency of 26.5% amongst the Indonesian cohort. Conclusion: Nala PGx Core produced robust and accurate genotyping when compared to other established benchmarks. Furthermore, the panel successfully characterized alleles of clinical relevance in the Singaporean and Indonesian populations such as CYP2D6*10 and CYP2D6*36, suggesting its potential for adoption in clinical workflows regionally.

A PGD Pregnancy Achieved by Embryo Copy Number Variation Sequencing with Confirmation by Non-Invasive Prenatal Diagnosis

2014 ◽  
Vol 41 (8) ◽  
pp. 453-456 ◽  
Author(s):  
Hui Wang ◽  
Li Wang ◽  
Minyue Ma ◽  
Zhuo Song ◽  
Jianguang Zhang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Copy Number Variation ◽  
Copy Number ◽  
Non Invasive ◽  
Number Variation

scholarly journals Exploring the application of copy number variation sequencing in prenatal diagnosis

2020 ◽  
Author(s):  
Tianyuan Zhang ◽  
Suzhen Qu ◽  
Zhi Gao ◽  
Panlai Shi ◽  
Xiangdong Kong
Keyword(s):  
Prenatal Diagnosis ◽  
Copy Number Variation ◽  
Copy Number ◽  
Number Variation

Efficacy of copy-number variation sequencing technology in prenatal diagnosis

2019 ◽  
Vol 47 (6) ◽  
pp. 651-655 ◽  
Author(s):  
Xiaoxi Zhao ◽  
Lin Fu
Keyword(s):  
Prenatal Diagnosis ◽  
Copy Number Variation ◽  
Copy Number ◽  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Karyotype Analysis ◽  
Balanced Translocation ◽  
Combined Application ◽  
Number Variation ◽  
Medical University

Abstract Background Classical karyotyping and copy-number variation sequencing (CNV-seq) are useful methods for the prenatal detection of chromosomal abnormalities. Here, we examined the potential of using a combination of the two methods for improved and accurate diagnosis. Methods From February 2013 to January 2018, 64 pregnant women showing indications for fetal chromosomal examination in the affiliated hospital of the Inner Mongolia Medical University were selected for this study. Amniotic fluid was collected and used for karyotype analysis and CNV-seq. Results Karyotype analysis of the 64 cases showed that six cases (9.38%) had chromosomal abnormalities. Using CNV-seq, in addition to three cases with numerical abnormalities of chromosomes, 14 cases were detected with CNV, of which five were pathogenic CNV, four were of uncertain clinical significance and five were polymorphic CNV. However, CNV-seq failed to detect one case with sex chromosome mosaicism and a balanced translocation carrier. The rate of abnormal chromosome and CNV detection was 26.56% (17/64) by CNV-seq. Conclusion Application of CNV-seq in prenatal diagnosis could allow the detection of submicroscopic chromosomal abnormalities and effectively reduce the birth of children with microdeletion and microduplication syndrome. Additionally, the combined application of karyotype analysis and CNV-seq can effectively improve the detection rate of chromosome abnormalities.

Copy number variation sequencing-based prenatal diagnosis using cell-free fetal DNA in amniotic fluid

2016 ◽  
Vol 36 (6) ◽  
pp. 576-583 ◽  
Author(s):  
Qingwei Qi ◽  
Sijia Lu ◽  
Xiya Zhou ◽  
Fengxia Yao ◽  
Na Hao ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Copy Number Variation ◽  
Amniotic Fluid ◽  
Copy Number ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Number Variation

scholarly journals Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Jinman Zhang ◽  
Xinhua Tang ◽  
Jilin Hu ◽  
Guilin He ◽  
Jian Wang ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Prenatal Testing ◽  
Maternal Serum ◽  
Ultrasound Scanning ◽  
Maternal Serum Screening ◽  
Fetal Ultrasound ◽  
Noninvasive Prenatal Testing ◽  
Screening Performance ◽  
Number Variation

Abstract Background We aimed to evaluate the clinical value of copy number variation-sequencing (CNV-Seq) in combination with cytogenetic karyotyping in prenatal diagnosis. Methods CNV-Seq and cytogenetic karyotyping were performed in parallel for 9452 prenatal samples for comparison of the diagnostic performance of the two methods, and to evaluate the screening performance of maternal age, maternal serum screening, fetal ultrasound scanning and noninvasive prenatal testing (NIPT) for fetal pathogenic copy number variation (CNV). Results Among the 9452 prenatal samples, traditional karyotyping detected 704 cases (7.5%) of abnormal cytogenetic karyotypes, 171 (1.8%) chromosome polymorphism, 20 (0.2%) subtle structural variations, 74 (0.7%) mutual translocation (possibly balanced), 52 (0.6%) without karyotyping results, and 8431 (89.2%) normal cytogenetic karyotypes. Among the 8705 cases with normal karyotype, polymorphism, mutual translocation, or marker chromosome, CNV-Seq detected 63 cases (0.7%) of pathogenic chromosome microdeletion/duplication. Retrospectively, noninvasive prenatal testing (NIPT) had high sensitivity and specificity for the screening of fetal pathogenic CNV, and NIPT combining with maternal age, maternal serum screening or fetal ultrasound scanning, which improved the screening performance. Conclusion The combined application of cytogenetic karyotyping and CNV-Seq significantly improved the detection rate of fetal pathogenic chromosome microdeletion/duplication. NIPT was recommended for the screening of pathogenic chromosome microdeletion/duplication, and NIPT combining with other screening methods further improved the screening performance for pathogenic fetal CNV.

Identification of Novel Germline and Tumor-Specific Nucleotide Variants and Copy Number Variation in Clival Chordomas by Exome Sequencing

2015 ◽  
Vol 76 (S 01) ◽  
Author(s):  
Georgios Zenonos ◽  
Peter Howard ◽  
Maureen Lyons-Weiler ◽  
Wang Eric ◽  
William LaFambroise ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Exome Sequencing ◽  
Copy Number ◽  
Number Variation ◽  
Specific Nucleotide
Sign in / Sign up

Export Citation Format

Share Document