Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China
Tóm tắt
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. 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. 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%). 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.
Tài liệu tham khảo
Rosano A, Botto LD, Botting B, Mastroiacovo P. Infant mortality and congenital anomalies from 1950 to 1994: an international perspective. J Epidemiol Community Health. 2000;54(9):660–6.
Morris JK, Waters JJ, de Souza E. The population impact of screening for Down syndrome: audit of 19 326 invasive diagnostic tests in England and Wales in 2008. Prenat Diagn. 2012;32(6):596–601.
American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol. 2013;122(6):1374–7.
Malcolm S. Microdeletion and microduplication syndromes. Prenat Diagn. 1996;16(13):1213–9.
Weise A, Mrasek K, Klein E, Mulatinho M, Llerena JC Jr, Hardekopf D, et al. Microdeletion and microduplication syndromes. J Histochem Cytochem. 2012;60(5):346–58.
Vialard F, Simoni G, Aboura A, De Toffol S, Molina Gomes D, Marcato L, et al. Prenatal BACs-on-Beads™ : a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis. Prenat Diagn. 2011;31(5):500–8.
Gross SJ, Bajaj K, Garry D, Klugman S, Karpel BM, Roe AM, et al. Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes. Prenat Diagn. 2011;31(3):259–66.
García-Herrero S, Campos-Galindo I, Martínez-Conejero JA, Serra V, Olmo I, Lara C, et al. BACs-on-Beads technology: a reliable test for rapid detection of aneuploidies and microdeletions in prenatal diagnosis. Biomed Res Int. 2014;2014:590298.
Badeau M, Lindsay C, Blais J, Nshimyumukiza L, Takwoingi Y, Langlois S, et al. Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women. Cochrane Database Syst Rev. 2017;11(11):CD011767.
Choy KW, Kwok YK, Cheng YK, Wong KM, Wong HK, Leung KO, et al. Diagnostic accuracy of the BACs-on-beads™ assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series. BJOG. 2014;121(10):1245–52.
Vialard F, Simoni G, Gomes DM, Abourra A, De Toffol S, Bru F, et al. Prenatal BACs-on-beads™: the prospective experience of five prenatal diagnosis laboratories. Prenat Diagn. 2012;32(4):329–35.
Cheng YK, Wong C, Wong HK, Leung KO, Kwok YK, Suen A, et al. The detection of mosaicism by prenatal BoBs™. Prenat Diagn. 2013;33(1):42–9.
Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG. Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med. 2013;15(6):478–81.
Rouzier C, Chaussenot A, Fragaki K, Serre V, Ait-El-Mkadem S, Richelme C, et al. NDUFS6 related Leigh syndrome: a case report and review of the literature. J Hum Genet. 2019;64(7):637–45.
Grati FR, Molina Gomes D, Ferreira JC, Dupont C, Alesi V, Gouas L, et al. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies. Prenat Diagn. 2015;35(8):801–9.
Li C, Chen B, Zheng J, Cheng L, Song T, Guo F, et al. Prenatal diagnosis of BACs-on-beads assay in 3647 cases of amniotic fluid cells. Reprod Sci. 2019;26(7):1005–12.
Tao H, Shi J, Wang J, Zhao L, Ding J, Yang L. Rapid prenatal aneuploidy detection of BACs-on-beads assay in 4961 cases of amniotic fluid samples. J Matern Fetal Neonatal Med. 2019:1–7. https://doi.org/10.1080/14767058.2019.1704248. PMID: 31875738.
Ben Khelifa H, Soyah N, Ben-Abdallah-Bouhjar I, Gritly R, Sanlaville D, Elghezal H, et al. Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation. Gene. 2013;527(2):578–83.
Sitek JC, Kulseth MA, Rypdal KB, Skodje T, Sheng Y, Retterstøl L. Whole-exome sequencing for diagnosis of hereditary ichthyosis. J Eur Acad Dermatol Venereol. 2018;32(6):1022–7.
Chen P, Jin C, Shan Q, Qian B, Zheng X, Wang X, et al. Application of BACs-on-beads and karyotyping for the prenatal diagnosis of 1371 pregnant women with a high risk. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34(4):542–5.
Huang H, Zhang M, Wang Y, Lin N, He D, Chen M, et al. Application of the BACs-on-beads™ assay for rapid prenatal detection application of BoBs™ for PND of aneuploidies and microdeletions. Mol Reprod Dev. 2018;85(2):146–54.
Fang Y, Wang G, Gu L, Wang J, Suo F, Gu M, et al. Application of karyotype analysis combined with BACs-on-beads for prenatal diagnosis. Exp Ther Med. 2018;16(4):2895–900.
Shaffer LG, Coppinger J, Morton SA, Alliman S, Burleson J, Traylor R, et al. The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes. Prenat Diagn. 2011;31(8):778–87.
Society for Maternal-Fetal Medicine (SMFM). Electronic address: [email protected], Dugoff L, Norton ME, Kuller JA. The use of chromosomal microarray for prenatal diagnosis. Am J Obstet Gynecol. 2016;215(4):B2–9.
Stosic M, Levy B, Wapner R. The use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol Clin N Am. 2018;45(1):55–68.