The Comprehensive Comparison of Bacterial Artificial Chromosomes (BACs)–on-Beads Assay and Copy Number Variation Sequencing in Prenatal Diagnosis of Southern Chinese Women

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.

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Exploring the application of copy number variation sequencing in prenatal diagnosis

10.22541/au.160029767.70466740 ◽

2020 ◽

Author(s):

Tianyuan Zhang ◽

Suzhen Qu ◽

Zhi Gao ◽

Panlai Shi ◽

Xiangdong Kong

Keyword(s):

Prenatal Diagnosis ◽

Copy Number Variation ◽

Copy Number ◽

Number Variation

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Efficacy of copy-number variation sequencing technology in prenatal diagnosis

Journal of Perinatal Medicine ◽

10.1515/jpm-2019-0005 ◽

2019 ◽

Vol 47 (6) ◽

pp. 651-655 ◽

Cited By ~ 2

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.

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