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

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 v...

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Published inFrontiers in genetics Vol. 12; p. 789625
Main Authors Jiang, Yu, Wu, Lili, Ge, Yunshen, Zhang, Jian, Huang, Yanru, Wu, Qichang, Zhang, Yanhong, Zhou, Yulin
Format Journal Article
LanguageEnglish
Published Switzerland Frontiers Media S.A 14.01.2022
Subjects
applicable populations
clinical pathways
clinical utility
Genetics
prenatal bacs-on-beads
prenatal diagnosis
clinical pathways
prenatal diagnosis
applicable populations
clinical utility
prenatal bacs-on-beads
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Summary: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. 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. 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. 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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Mete Sucu, Cukurova University, Turkey
Abdul Noor, University of Toronto, Canada
Reviewed by: Rincic Martina, University of Zagreb, Croatia
These authors have contributed equally to this work
This article was submitted to Human and Medical Genomics, a section of the journal Frontiers in Genetics
Edited by: Manuel Corpas, Cambridge Precision Medicine, United Kingdom
ISSN:1664-8021
1664-8021
DOI:10.3389/fgene.2021.789625