Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China

• Published in: BMC pregnancy and childbirth Vol. 21; no. 1; pp. 94 - 10
• Main Authors: Zhuang, Jianlong, Chen, Chunnuan, Jiang, Yuying, Luo, Qi, Zeng, Shuhong, Lv, Chunling, Wang, Yuanbai, Fu, Wanyu
• Format: Journal Article
• Language: English
• Published: London BioMed Central 28.01.2021; Springer Nature B.V; BMC
• Subjects: Adult; Age; Amniotic fluid; Bioassays; Birth defects; BoBs assay; Cell culture; China; Chromosome Aberrations - embryology; Chromosomes; Congenital Abnormalities - diagnosis; Congenital Abnormalities - genetics; Deoxyribonucleic acid; DNA; Enzymes; Female; Genetic counseling; Gestational Age; Gynecology; Humans; Hybridization; In Situ Hybridization, Fluorescence; Karyotyping; Male; Maternal and Child Health; Maternal health and pregnancy; Medical diagnosis; Medicine; Medicine & Public Health; Microdeletion/microduplication; Pregnancy; Prenatal diagnosis; Prenatal Diagnosis - methods; Reproductive Medicine; Research Article; Risk factors; Serology; Statistical analysis; Ultrasonic imaging; Womens health; China; BoBs assay; Prenatal diagnosis; Karyotyping; Microdeletion/microduplication
• ISSN: 1471-2393; 1471-2393
• DOI: 10.1186/s12884-021-03589-9

Background An increasing number of techniques have been used for prenatal diagnosis of genetic abnormalities. Our initial objective was to explore the value of the BACs-on-Beads (BoBs) assay for the prenatal diagnosis of aneuploidies and microdeletion/microduplication syndromes in Quanzhou, Southeast China. Methods A total of 1409 pregnant women with high-risk factors for chromosomal abnormalities admitted to Quanzhou Women’s and Children’s Hospital were enrolled in this study. BoBs assays and karyotype analyses were conducted for all subjects. Subsequently, chromosome microarray analysis (CMA) or fluorescence in situ hybridization (FISH) was performed to validate the findings. Results In this study, karyotype analysis and BoBs assay failed in 4 cases, and 2 cases, respectively. A total of 1403 cases were successfully analyzed, with success rates of 99.72% (1405/1409) and 99.85% (1407/1409) for karyotype analysis and Bobs assay, respectively. BoBs assay rapidly detected chromosomal aneuploidies in line with the karyotyping data. Additionally, 23 cases of microdeletions/microduplications were detected by BoBs assay but missed by karyotyping, including 22q11.2 microdeletions/microduplications, 5p15.32p15.33 microdeletion, Xp22.31 microdeletions/microduplications, Xq27.3 microdeletion, and Yp11.2 and Yq11.22q11.222 microduplication. In comparison with karyotyping, fewer mosaicisms were identified by BoBs assay. A high detection rate of chromosomal abnormalities was observed in the high-risk group during noninvasive prenatal testing (NIPT) (41.72%) and the abnormal ultrasound group (13.43%). Conclusions BoBs assay can be used for the rapid and efficient prenatal diagnosis of common aneuploidies and microdeletion/microduplication syndromes. Moreover, the combined use of BoBs assay and karyotyping in prenatal diagnosis may allow for a more effective detection of chromosomal abnormalities.