Prenatal Diagnosis of Down Syndrome and Common Chromosomal Disorders Using Molecular Karyotyping

Authors

  • Siripakorn Sangkitporn Department of Medical Sciences
  • Chanane Wanapirak Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University
  • Areerat Khorchai The 50th Anniversary Mahavajiralongkorn Hospital, Ubon Ratchathani
  • Chonlada Yodtup Department of Medical Sciences
  • Sawitree Duangruang Department of Medical Sciences
  • Natcha Panajamnong Department of Medical Sciences
  • Phatcharaphon Nopprang Department of Medical Sciences
  • Acharaporn Dambua Department of Medical Sciences
  • Patcharaporn Boonchu Department of Medical Sciences
  • Somchai Sangkitporn Department of Medical Sciences

Keywords:

Chromosomal disorders, Down syndrome, Microdeletion/microduplication syndromes, Molecular karyotyping, Prenatal diagnosis

Abstract

         For the prevention and control of Down syndrome and other chromosomal disorders, laboratory procedures for prenatal diagnosis should be established for high-risk pregnancies. A rapid molecular karyotyping assay, BACs-on-Beads (BoBsTM), has been developed for diagnosis of Down syndrome and common aneuploidies of  chromosomes 13, 18, X and Y as well as nine microdeletion/microduplication syndromes. The study evaluated the performance of BoBsTM assay for prenatal diagnosis of Down syndrome and other chromosomal disorders in amniotic fluid samples (n = 1,004) obtained via amniocentesis between the 15th and 22th weeks of gestation in comparison with the gold standard conventional karyotyping. Interpretable results were obtained with BoBsTM assay in detection of 26 chromosome abnormalities comprising 23 aneuploidies (Down syndrome, n = 10; Edwards syndrome, n = 7; Klinefelter syndrome, n = 1; Patau syndrome, n = 1; Triple X syndrome, n = 1; and Turner syndrome n = 3) with 100% agreement with conventional karyotyping and three cases of microdeletion/microduplication syndromes [22q11.2 microdeletion (DiGeorge syndrome), n = 1 and 22q11.2 microduplication, n = 2] missed by conventional karyotyping. The assay has been implemented for prenatal diagnosis service at the National Institute of Health according to ISO 15189:2012. In conclusion, molecular BoBsTM assay provides a rapid and reliable method for detection of common aneuploidies and microdeletion/microduplication syndromes in uncultured prenatal samples and should be helpful in the prevention and control of Down syndrome and other chromosomal disorders in the country.

References

Al-Biltagi M. Epidemiology and prevalence of Down syndrome. In: Al-Biltagi M, editor. Down syndrome children - an update. Sharjah, U.A.E: Bentham Science Publishers; 2015. p. 3-44.

Asim A, Kumar A, Muthuswamy S, Jain S, Agarwal S. Down syndrome: an insight of the disease. J Biomed Sci 2015; 22: 41. (9 pages).

Pangkanon S, Sawasdivorn S, Kuptanon C, Kabchan P. The prevalence of congenital anomalies in Thailand. Thai J Pediatr 2016; 55(2): 85-92.

Rojnueangnit K, Khaosamlee P, Chunsuwan I, Vorravanpreecha N, Lertboonnum T, Rodjanadit R, et al. Quality of life and comprehensive health supervision for children with Down syndrome in Thailand. J Community Genet 2020; 11(3): 351-8.

van den Driessen Mareeuw FA, Coppus AMW, Delnoij DMJ, de Vries E. Quality of health care according to people with Down syndrome, their parents and support staff-A qualitative exploration. J Appl Res Intellect Disabil 2020; 33(3): 496-514.

Weijerman ME, de Winter JP. Clinical practice. The care of children with Down syndrome. Eur J Pediatr 2010; 169(12): 1445-52.

Moorthie S, Blencowe H, Darlison MW, Gibbons S, Lawn JE, Mastroiacovo P, et al. Chromosomal disorders: estimating baseline birth prevalence and pregnancy outcomes worldwide. J Community Genet 2018; 9(4): 377-86.

Adams MM, Erickson JD, Layde PM, Oakley GP. Down's syndrome. Recent trends in the United States. JAMA 1981; 246(7): 758-60.

Jaruratanasirikul S, Kor-Anantakul O, Chowvichian M, Limpitikul W, Dissaneevate P, Intharasangkanawin N, et al. A populationbased study of prevalence of Down syndrome in Southern Thailand. World J Pediatr 2017; 13: 63-9.

Park GW, Kim NE, Choi EK, Yang HJ, Won S, Lee YJ. Estimating nationwide prevalence of live births with Down syndrome and their medical expenditures in Korea. J Korean Med Sci 2019; 34(31): e207. (12 pages).

Liu H, Gao Y, Hu Z, Lin L, Yin X, Wang J, et al. Performance evaluation of NIPT in detection of chromosomal copy number variants using low-coverage whole-genome sequencing of plasma DNA. PLoS One 2016; 11(7): e0159233. (11 pages).

Dahl F, Ericsson O, Karlberg O, Karlsson F, Howell M, Persson F, et al. Imaging single DNA molecules for high precision NIPT. Sci Rep 2018; 8: 4549. (8 pages).

Rattanasiri T. Common obstetrics problemsin fetal diagnosis and treatment. Khon Kaen, Thailand: Faculty of Medicine, Khon Kaen University; 2018.

Wanapirak C, Piyamongkol W, Sirichotiyakul S, Tongprasert F, Srisupundit K, Luewan S, et al. Fetal Down syndrome screening models for developing countries; Part I: Performance of maternal serum screening. BMC Health Serv Res 2019; 19: 897. (7 pages).

Silva M, de Leeuw N, Mann K, Schuring-Blom H, Morgan S, Giardino D, et al. European guidelines for constitutional cytogenomic analysis. Eur J Hum Genet 2019; 27: 1-16.

Bui TH. Prenatal cytogenetic diagnosis: gone FISHing, BAC soon! Ultrasound Obstet Gynecol 2007; 30(3): 247-51.

Gekas J, van den Berg DG, Durand A, Vallée M, Wildschut HI, Bujold E, et al. Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities. Eur J Hum Genet 2011; 19: 3-9.

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.

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.

Galehdari H, Barati M, Mahmoudi M, Shahbazian N, Masihi S, Zamani M, et al. Validity of chromosomal aneuploidies testing during pregnancy: a comparison of karyotype, interphase-FISH and QF-PCR techniques. Biomed Res 2018; 29(10): 2164-8.

Choy KW, Kwok YK, Cheng YKY, 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.

Mann K, Fox SP, Abbs SJ, Yau SC, Scriven PN, Docherty Z, et al. Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis. Lancet 2001; 358(9287): 1057-61.

UK Department of Health. Our inheritance, our future: realising the potential of genetics in the NHS. London: TSO (The Stationery Office); 2003.

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. (7 pages).

Miao Z, Liu X, Hu F, Zhang M, Yang P, Wang L. Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis. Mol Cytogenet 2019; 12: 9. (8 pages).

Hastings R, Howell R, Bricarelli FD, Kristoffersson U, Cavani S. Specific constitutional cytogenetic guidelines: A common uropean framework for quality assessment for constitutional, acquired and molecular cytogenetic investigations. ECA Newslett 2012: 30; 11-9.

McGillivray G, Hui L, Halliday J. Prenatal screening and diagnosis of chromosomal and genetic conditions in the fetus in pregnancy. The Royal Australian and New Zealand College of Obstetricians and Gynaecologists; 2016.

ISO 15189:2012. Medical laboratories-Requirements for quality and competence. 3rd ed. Geneva, Switzerland: International Organization for Standardization; 2012.

Schneider F, Maurer C, Friedberg RC. International Organization for Standardization (ISO) 15189. Ann Lab Med 2017; 37(5): 365-70.

Panichkriangkrai W, Topothai C, Saengruang N, Thammatach-aree J, Tangcharoensathien V. Universal access to sexual and reproductive health services in Thailand: achievements and challenges. Sex Reprod Health Matters 2020; 28(2): 1-6.

Kunsiripunyo J, Srirot W. Preparation of counseling nurses to support Down syndrome screening system in all age groups of pregnant women. JPNC 2021; 32: 237-52.

Mellali S, Haoud K, Gouas L, Khaled MB, Vago P, Moulessehoul S. Prenatal BoBsTM in the cytogenetic analysis of products of spontaneous miscarriage. S Afr Med J 2015; 105(10): 870-3.

Farra C, Nassar AH, Mirza F, Abdouni L, Souaid M, Awwad J. BACs-on-Beads™ assay, a rapid aneuploidy test, improves the diagnostic yield of conventional karyotyping. Mol Biol Rep 2020; 47: 169-77.

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.

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Published

31-03-2022

How to Cite

1.
Sangkitporn S, Wanapirak C, Khorchai A, Yodtup C, Duangruang S, Panajamnong N, et al. Prenatal Diagnosis of Down Syndrome and Common Chromosomal Disorders Using Molecular Karyotyping. ว กรมวิทย พ [Internet]. 2022 Mar. 31 [cited 2026 Nov. 12];64(1):1-13. Available from: https://he02.tci-thaijo.org/index.php/dmsc/article/view/254885

Issue

Vol. 64 No. 1 (2022): January - March 2022

Section

Original Articles

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