The role of the QF-PCR method in the detection of frequent aneuploidies
https://doi.org/10.25557/2073-7998.2023.07.11-20
Abstract
Aneuploidy is a numerical chromosome abnormality in a diploid set in a cell. The most common aneuploidies observed in case of live birth are aneuploidies on chromosomes 13, 18, 21, X, and Y. At the present moment, it is possible to use a fast, reliable, and cheap method of quantitative fluorescent polymerase chain reaction (QF-PCR) for diagnosing frequent aneuploidies. The analysis of 1192 prenatal samples and 195 postnatal samples using this method detected various chromosomal abnormalities in 15% of cases. The most frequently detected aneuploidy was a trisomy 21 - 9.7%. The trisomy 18 rate was 2.0%, trisomy 13 - 0.3%. Among the anomalies of the sex chromosomes, Klinefelter syndrome was found in 1.1% and Turner syndrome in 0.8% of cases. There was a decrease in the proportion of aneuploidies accompanied by severe malformations in postnatal samples. The high level of the STR markers heterozygosity used in the study made it possible to obtain results in all samples for analyzed chromosomes. It is most preferable to use the QF-PCR method for prenatal examination of patients with suspected frequent fetal aneuploidies during late pregnancy or to confirm chromosomal abnormalities in case of aneuploidy detection by noninvasive prenatal test and for postnatal diagnosis of unbalanced chromosomal abnormalities.
Supporting agencies: The work was supported by the state task of the Ministry of Science and Higher Education for Research Centre for Medical Genetics.
About the Authors
T. S. Beskorovainaya
N.P. Bochkov Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
A. L. Chukhrova
N.P. Bochkov Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
V. B. Chernykh
N.P. Bochkov Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
O. A. Shchagina
N.P. Bochkov Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
A. V. Polyakov
N.P. Bochkov Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
References
1. Hassold t., Abruzzo M., Adkins K. et al. Human aneuploidy: incidence, origin, and etiology. Environ Mol Mutagen. 1996;28(3):167-75.
2. Weijerman M.E., de Winter J.P. Clinical practice. the care of children with Down syndrome. Eur J Pediatr. 2010 Dec;169(12):1445-52.
3. Springett A, Wellesley D, Greenlees R, et al. Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000-2011. Am J Med Genet A. 2015 Dec;167A(12):3062-9.
4. Kumar V., Abbas A., Aster J. Robbins and Cotran pathologic basis of disease. 9th edn. Elsevier, Philadelphia, 2014, 1408 pp.
5. Divane A., Carter N.P., Spathas D.H. et al. Rapid prenatal diagnosis of aneuploidy from uncultured amniotic fluid cells using five-colour fluorescence in situ hybridization. Prenat Diagn. 1994 Nov;14(11):1061-9.
6. Spathas D.H., Divane A., Maniatis G.M., et al. Prenatal detection of trisomy 21 in uncultured amniocytes by fluorescence in situ hybridization: a prospective study. Prenat Diagn. 1994 Nov;14(11):1049-54.
7. Dudarewicz L., Holzgreve W., Jeziorowska A. et al. Molecular methods for rapid detection of aneuploidy. J Appl Genet. 2005;46(2):207-15.
8. Hahn S., Jackson L.G. Prenatal diagnosis. Preface. Methods Mol Biol. 2008;444:v-vi.
9. Mansfield E.S. Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms. Hum Mol Genet. 1993 Jan;2(1):43-50.
10. Adinolfi M., Pertl B., Sherlock J. Rapid detection of aneuploidies by microsatellite and the quantitative fluorescent polymerase chain reaction. Prenat Diagn. 1997 Dec;17(13):1299-311.
11. Moftah R., Marzouk S., El-Kaffash D. et.al. QF-PCR as a molecular-based method for autosomal aneuploidies detection. Advances in Reproductive Sciences. 2013 Nov 1; 1(3): 21-28.
12. Cirigliano V., Ejarque M., Cañadas M.P. et al. Clinical application of multiplex quantitative fluorescent polymerase chain reaction (QFPCR) for the rapid prenatal detection of common chromosome aneuploidies. Mol Hum Reprod. 2001 Oct;7(10):1001-6.
13. Schmidt W., Jenderny J., Hecher K. et al. Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk. Mol Hum Reprod. 2000 Sep;6(9):855-60.
14. Silva M., de Leeuw N., Mann K. et al. European guidelines for constitutional cytogenomic analysis. Eur J Hum Genet. 2019 Jan;27(1):1-16.
15. Voglino G., Marongiu A., Massobrio M. et al. Rapid prenatal diagnosis of aneuploidies. Lancet. 2002 Feb 2;359(9304):442.
16. Cottino L., Sahibdeen V., Mudau M. et al. QF-PCR: a valuable first-line prenatal and postnatal test for common aneuploidies in South Africa. J Community Genet. 2022 Jun;13(3):355-363.
17. tarasenko O.A. Primeneniye metoda KF-PtSR dlya vyyavleniya aneuploidii po khromosomam 21, 18, 13, KH i Y pri amniotsenteze u beremennykh raznykh grupp riska [Possibility of using the QF PCR-method to detect aneuploidy on chromosomes 21, 18, 13, X and Y in amniocentesis in pregnant women of different risk groups]. Meditsinskiy alfavit [Medical alphabet]. 2018;2(19):37-40. (In Russ.)
18. Khlevnaya L.A., Mazurik N.V., Malykhina N.Z. et al. Invazivnaya diagnostika khromosomnykh zabolevaniy v I trimestre beremennosti. Opyt respublikanskogo spetsializirovannogo tsentra meditsinskoy genetiki i prenatal’noy diagnostiki [Invasive diagnosis of chromosomal diseases in the 1st trimestеr of pregnancy. the experience of the republican specialized centеr of medical genetics and prenatal diagnosis]. Prenatal’naya diagnostika [Prenatal diagnosis]. 2016;15(2):142-150. (In Russ.)
19. Strelnikov V.V., Kuznetsova E.B., Ivanov M.A., et al. Rezul’taty ispol’zovaniya meditsinskoy tekhnologii opredeleniya naiboleye chastykh aneuploidiy metodom mnogolokusnoy kolichestvennoy fluorestsentnoy PtSR [Results of the use of the medical technology to determine the most frequent aneuploidies by multilocus quantitative fluorescent PCR]. Meditsinskaya genetika [Medical Genetics]. 2016;15(10):34-44. (In Russ.)
20. Shin Y.J., Chung J.H., Kim D.J. et al. Quantitative fluorescent polymerase chain reaction for rapid prenatal diagnosis of fetal aneuploidies in chorionic villus sampling in a single institution. Obstet Gynecol Sci. 2016 Nov;59(6):444-453.
21. Mann K., Petek E., Pertl B. Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR. Methods Mol Biol. 2019; 1885:139-160.
22. Son J.Y., Lee Y.S., Choung C.M. et al. Polymorphism of nine X chromosomal StR loci in Koreans. Int J Legal Med. 2002 Dec;116(6):317-21.
Review
For citations:
Beskorovainaya T.S., Chukhrova A.L., Chernykh V.B., Shchagina O.A., Polyakov A.V. The role of the QF-PCR method in the detection of frequent aneuploidies. Medical Genetics. 2023;22(7):11-20. (In Russ.) https://doi.org/10.25557/2073-7998.2023.07.11-20
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