PRENATAL TANIDA MİKRODİZİNİN ROLÜ

Abstract

Prenatal genetik tanı 1960’lardan beri yapılabilmekle birlikte, 1980 sonrasında yaygın olarak kullanılmaya başlanmıştır. Sitogenetik inceleme, bölünebilir hücre ve hücre kültürü gereksinimi, düşük ayrım gücü (<4-5Mb) ve sübjektif değerlendirme gibi dezavantajlara sahiptir. Bu sorunların üstesinden gelme umuduyla prenatal mikrodizin incelemesinin kullanımı yaygınlaşmaya başlamış, ancak kendine has başka sorunlar nedeniyle henüz konvansiyonel sitogenetiğin yerini almamıştır. Yüksek ayrım gücüne sahip olması, objektif bir değerlendirme sunması ve bölünen hücreye gerek duymaması mikrodizinin avantajlarını oluştururken; etkisi tam olarak bilinemeyen değişimleri de saptaması ve buna bağlı olarak parental anksiyeteye yol açabilmesi ise dezavantajları arasında yer almaktadır. Ülkeler arasında prenatal kullanımdaki önceliği değişmekle birlikte hepsinde ortak görüş, ultrasonografide yapısal anomalisi olan fetüslerin ve düşük materyallerinin genetik incelemesinde ilk tercih olduğudur.

Keywords

• mikrodizin
• prenatal
• genetik

The Role of Microarray in Prenatal Diagnosis

Abstract

Although prenatal genetic diagnosis has been in use since the 1960s, it has been widely used after 1980s. The need for divisible cells and cell culture, low discrimination power (<4-5Mb) and subjective evaluation are the disadvantages of cytogenetic analysis. The use of prenatal microarray analysis has been becoming widespread in the hope of overcoming these problems, but has not yet replaced conventional cytogenetics due to its own disadvantages. While having high discrimination power, providing an objective evaluation and not needing dividing cells constitute its advantages; its high discrimination power is also a disadvantage, because of variants of unsignificance and incidental findings that can cause parental anxiety. Although the indications of prenatal use varies among countries, the common point is that prenatal microarray analysis is the first choice in the genetic examination of fetuses with structural anomalies detected prenatally and of intrauterin fetal demise.

Keywords

• microarray
• prenatal
• genetic

References

1. 1. Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367(23):2175-84.
2. 2. Lo JO, Shaffer BL, Feist CD, Caughey AB. Chromosomal microarray analysis and prenatal diagnosis. Obstet Gynecol Surv. 2014;69(10):613-21.
3. 3. Levy B, Wapner R. Prenatal diagnosis by chromosomal microarray analysis. Fertil Steril. 2018;109(2):201-12.
4. 4. Stosic M, Levy B, Wapner R. The use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol Clin North Am. 2018;45(1):55-68.
5. 5. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD et al. Global variation in copy number in the human genome. Nature. 2006;444(7118):444-54.
6. 6. Strassberg M, Fruhman G, Van den Veyver IB. Copy-number changes in prenatal diagnosis. Expert Rev Mol Diagn. 2011;11(6):579-92.
7. 7. Lupski JR. Genomic rearrangements and sporadic disease. Nat Genet. 2007;39(7 Suppl):S43-7.
8. 8. Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020;22(2):245-57.

9. 9. 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):1-16.
10. 10. Riggs ER, Church DM, Hanson K, Horner VL, Kaminsky EB, Kuhn RM et al. Towards an evidence-based process for the clinical interpretation of copy number variation. Clin Genet. 2012;81(5):403-12.
11. 11. Oneda B, Rauch A. Microarrays in prenatal diagnosis. Best Pract Res Clin Obstet Gynaecol. 2017;42:53-63.
12. 12. Patel A, Bi W. Incidental finding in Copy Number Variation (CNV) analysis. Curr Genet Med Rep. 2014;2(3):179-81.
13. 13. Hillman SC, McMullan DJ, Hall G, Togneri FS, James N, Maher EJ et al. Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2013;41(6):610-20.
14. 14. Srebniak MI, Joosten M, Knapen MFCM, Arends LR, Polak M et al. Frequency of submicroscopic chromosomal aberrations in pregnancies without increased risk for structural chromosomal aberrations: systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2018;51(4):445-52.
15. 15. Van Opstal D, de Vries F, Govaerts L, Boter M, Lont D, van Veen S et al. Benefits and burdens of using a SNP array in pregnancies at increased risk for the common aneuploidies. Hum Mutat. 2015;36(3):319-26.
16. 16. Shaffer LG, Rosenfeld JA, Dabell MP, Coppinger J, Bandholz AM, Ellison JW et al. Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound. Prenat Diagn. 2012;32(10):986-95.
17. 17. Tonni G, Palmisano M, Perez Zamarian AC, Rabachini Caetano AC, Santana EFM, Peixoto AB et al. Phenotype to genotype characterization by array-comparative genomic hydridization (a-CGH) in case of fetal malformations: A systematic review. Taiwan J Obstet Gynecol. 2019;58(1):15-28.
18. 18. Wang H, Chau MHK, Cao Y, Kwok KY, Choy KW. Chromosome copy number variants in fetuses with syndromic malformations. Birth Defects Res. 2017;109(10):725-33.
19. 19. Tıbbi Genetik Derneği. Erişim tarihi: 25 Şubat 2021:http://web.citius.technology/upload/Molek%C3%BCler%20Karyotipleme%20Standartlar%C4%B1_T%C3%BCrkiye.pdf.
20. 20. Committee on Practice Bulletins-Obstetrics, Committee on Genetics, and Society for Maternal-Fetal Medicine; Practice Bulletin no. 162 summary: Prenatal diagnostic testing for genetic disorders. Obstet Gynecol. 2016;127(5):976-8.
21. 21. Armour CM, Dougan SD, Brock JA, Chari R, Chodirker BN, DeBie I et al. On-behalf-of the Canadian College of Medical Geneticists. Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada. J Med Genet. 2018;55(4):215-21.
22. 22. Society for Maternal-Fetal Medicine (SMFM). Electronic address: [e-mail], Dugoff L, Norton ME, Kuller JA. The use of chromosomal microarray for prenatal diagnosis. Am J Obstet Gynecol. 2016;215(4):B2-9.