Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis

Zhengyou Miao,Luming Wang,Xia Liu,Pingli Yang,Furong Hu,Ming Zhang

doi:10.1186/s13039-019-0416-6

Zhengyou Miao, Luming Wang + Show 4 more

Open Access

https://doi.org/10.1186/s13039-019-0416-6

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Abstract

BackgroundThis study evaluated the individual and combined diagnostic performance of the bacterial artificial chromosomes (BACs)-on-Beads (BoBs™) assay and conventional karyotyping for the prenatal detection of chromosomal abnormalities in pregnant women who were 35 or more years-old.MethodThe primary outcome was concordance of any numerical, structural, or submicroscopic chromosomal abnormalities between BoBs™ and conventional karyotyping of amniotic fluid specimens from pregnant women at 17 to 22 weeks gestation.ResultsWe examined samples from 4852 pregnant women. BoBs™ indicated that 4708 samples were normal (97.03%), and 144 were abnormal (2.97%); conventional karyotyping indicated that 4656 (95.96%) samples were normal and 196 (4.04%) were abnormal. The combined use of both methods indicated that 4633 of 4852 samples were normal (95.49%) and 219 of 4852 samples (4.51%) were abnormal. The kappa coefficient of the combined test was 0.70, indicating substantial consistency between BoBs™ and conventional karyotyping (95% CI = 0.65–0.76, P < 0.001).ConclusionsOur results indicate that the combined use of BoBs™ and conventional karyotyping detected more fetal abnormalities than either test alone.

Highlights

This study evaluated the individual and combined diagnostic performance of the bacterial artificial chromosomes (BACs)-on-Beads (BoBsTM) assay and conventional karyotyping for the prenatal detection of chromosomal abnormalities in pregnant women who were 35 or more years-old
This study compared the individual and combined use of the bacterial artificial chromosomes-on-Beads (BoBsTM) assay and conventional karyotyping for the prenatal detection of chromosomal abnormalities in the amniotic fluid cells of women who were at least 35 years-old and at 17 to 22 weeks gestation
A comparison of BoBsTM with conventional karyotyping had a kappa coefficient of 0.70 (P < 0.001, 95% confidence interval [CI]: 0.65–0.76); a comparison of BoBsTM with the combined use of BoBsTM and conventional karyotyping had a kappa coefficient of 0.79; and a comparison of conventional karyotyping with the combined use of BoBsTM and conventional karyotyping had a kappa coefficient of 0.94

Summary

Introduction

This study evaluated the individual and combined diagnostic performance of the bacterial artificial chromosomes (BACs)-on-Beads (BoBsTM) assay and conventional karyotyping for the prenatal detection of chromosomal abnormalities in pregnant women who were 35 or more years-old. Several recent studies introduced an array comparative genomic hybridization (aCGH) technique using the bacterial artificial chromosomes (BACs)-on-Beads (BoBsTM) technology for the detection of common aneuploidies and specific microdeletion syndromes [1, 9,10,11]. Testing for fetal chromosomal abnormalities in the cells of amniotic fluid using a combination of chromosome G karyotype analysis and the BoBsTM assay should provide more accurate results [21]

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