Biochemical Aneuploidy Screening Tests

Abstract

Screening tests are used to detect high risk for a certain disease or anomalies. In order to have healthy children, screening test is applied to find out directly to determine the anomalous babyWhile a good screening test is easily applicable, high reliabile and cost-effective. This review emphasized that determining the most appropriate test for the detection of trisomy according to the gestational age and focus on the anomaly detection achiecvements of these tests.

Keywords

• Pregnancy,trisomy,screening tests

Biyokimyasal Aneoploidi Tarama Testleri

Abstract

Tarama testleri belli bir hastalık riski veya anomali için yüksek riskli grubu saptamak amacı ile kullanılan testlerdir. Tarama testlerinin amacı sağlıklı çocuk sahibi olabilmek için en erken zamanda anomalili bebeği saptamaktır. İyi bir tarama testi kolay uygulanabilir, güvenirliği yüksek ve maliyeti düşük olmalıdır. Bu derlemenin amacı, Trizomilerin saptanması için en uygun testin gebelik haftasına göre belirlenmesi ve testlerin anomali saptama başarıları üzerinde durulacaktır.

Keywords

• Gebelik,trizomiler,tarama testleri

References

1. Driscoll DA1, Gross S. Clinical practice. Prenatal screening for aneuplo- idy.N Engl J Med. 2009: 11;360:2556-62.
2. Collins VR, Muggli EE, Riley M, et al. Is Down syndrome a disappearing birth defect? J Pediatr 2008; 152:20
3. Weisz B1, Rodeck CH.An update on antenatal screening for Down’s sy- ndrome and specific implications for assisted reproduction pregnancies. Hum Reprod Update. 2006;12:513-8.
4. Tabor A, Alfirevic Z. Update on procedure-related risks for prenatal diag- nosis techniques. Fetal Diagn Ther 2010;27:17.
5. American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol. 2007;110:1459-67.
6. Resta RG. Changing demographics of advanced maternal age (AMA) and the impact on the predicted incidence of Down syndrome in the United States: Implications for prenatal screening and genetic counseling. Am J Med Genet A 2005; 133:31.
7. Ekelund CK, Jİrgensen FS, Petersen OB, et al. Impact of a new national screening policy for Down’s syndrome in Denmark: population based cohort study. BMJ 2008; 337:2547.
8. Malone FD1, Canick JA, Ball RH, First-trimester or second-trimester screening, or both, for Down’s syndrome. N Engl J Med. 2005 Nov 10;353:2001-11.

9. Wald NJ, George L, Smith D, et al. Serum screening for Down’s syndro- me between 8 and 14 weeks of pregnancy. International Prenatal Scree- ning Research Group. Br J Obstet Gynaecol 1996; 103:407.
10. Nicolaides KH. Nuchal translucency and other first-trimester sonograp- hic markers of chromosomal abnormalities. Am J Obstet Gynecol 2004; 191:45.
11. Kagan KO, Etchegaray A, Zhou Y, Wright D, Nicolaides KH. Prospective validation of first-trimester combined screening for trisomy 21. Ultra- sound Obstet Gynecol 2009;34:14-18.
12. Schielen PC, van Leeuwen-Spruijt M, Belmouden I, et al. Multi-centre first-trimester screening for Down syndrome in the Netherlands in routine clinical practice. Prenat Diagn 2006; 26:711.
13. Hermann M, Fries N, Mangione R, et al. Nuchal translucency measure- ment: are qualitative and quantitative quality control processes related? Prenat Diagn 2013; 33:770.
14. UptoDate 2014 Down syndrome:Prenatal screening overview
15. Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson First and second trimester antenatal screening for Down’s syndrome: the re- sults of the Serum, Urine and Ultrasound Screening Study (SURUSS). AM.J Med Screen. 2003;10:56-104
16. Breathnach FM, Malone FD, Lambert-Messerlian G, Cuckle HS, Por- ter TF, Nyberg DA et all. First- and second-trimester screening: de- tection of aneuploidies other than Down syndrome. Obstet Gynecol. 2007;110:651-7.
17. Wald NJ, Watt HC, Hackshaw AK. Integrated screening for Down’s synd- rome on the basis of tests performed during the first and second trimes- ters. N Engl J Med 1999; 341:461.
18. Platt LD1, Greene N, Johnson AObstet Gynecol. 2004;104:661-6.Sequ- ential pathways of testing after first-trimester screening for trisomy 21.
19. Cuckle HS, Malone FD, Wright D et al. Contingent screening for Down syndrome results from the FaSTER trial. Prenat Diagn. 2008;28:89-94
20. Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, Wa- inscoat JS.Presence of fetalDNA in maternal plasma and serum. Lancet. 1997 16;350:485-7
21. Hyett J, Non-invasive prenatal testing for Down syndrome Aust Prescr 2014;37:51-5
22. Fan HC, Quake SR Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics. PLoS One. 2010 3;5:10439
23. Benn P, Cuckle H, and Pergament E. Non-invasive prenatal diagnosis for Down syndrome: the paradigm will shift, but slowly. Ultrasound Obstet Gynecol 2012; 39: 127–130
24. Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet G. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 2012;207:374.1-6.
25. Non-invasive prenatal testing for aneuploidy. Committee Opinion No.545. American College of Obstetricians and Gynecologists. Obstet Gynecol 2012;120:1532-4.
26. Hill M, Finning K, Martin P, Hogg J, Meaney C, Norbury G, et al. Non-inva- sive prenatal determination of fetal sex: translating research into clinical practice. Clin Genet 2011;80:68e75.
27. Daniels G, Finning K, Martin P, Massey E. Non-invasive prenatal diagno- sis of fetal blood group phenotypes: current practice and future prospe- cts. Prenat Diagn 2009;29:1017
28. Norbury G, Norbury CJ. Non-invasive prenatal diagnosis of single gene disorders: how close are we? Semin Fetal Neonat Med. 2008; 13:76-83
29. Lench N, Barrett A, Fielding S, McKay F, Hill M, Jenkins L, et al. The clini- cal implementation of non-invasive prenatal diagnosis for single-gene di- sorders: challenges and progress made. Prenat Diagn 2013;33:555-62.
30. Twiss P, Hill M, Daley R, Chitty LS. Non-invasive prenatal testing for Down syndrome. Semin Fetal Neonatal Med. 2014;19:9-14.
31. Lo YM, Tsui NB, Chiu RW, et al. Plasma placental RNA allelic ratio per- mits noninvasive prenatal chromosomal aneuploidy detection. Nat Med 2007;13:218-23
32. Lo YM, Leung TN, Tein MS, et al. Quantitative abnormalities of fetal DNA in maternal serum in preeclampsia. Clin Chem 1999; 45:184.
33. Lau TK, Lo KW, Chan LY, et al. Cell-free fetal deoxyribonucleic acid in maternal circulation as a marker of fetal-maternal hemorrhage in patients undergoing external cephalic version near term. Am J Obstet Gynecol 2000; 183:712
34. Sugito Y, Sekizawa A, Farina A, et al. Relationship between severity of hy- peremesis gravidarum and fetal DNA concentration in maternal plasma. Clin Chem 2003; 49:1667.
35. Leung TN, Zhang J, Lau TK, et al. Maternal plasma fetal DNA as a marker for preterm labour. Lancet 1998; 352:1904
36. Zhong XY, Holzgreve W, Li JC, et al. High levels of fetal erythroblasts and fetal extracellular DNA in the peripheral blood of a pregnant woman with idiopathic polyhydramnios: case report. Prenat Diagn 2000; 20:838
37. Ashoor G, Syngelaki A, Wagner M, Birdir C, Nicolaides KH. Chromoso- me-selective sequencing of maternal plasma cell–free DNA for first-tri- mester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012;206:322.1-5.
38. Palomaki GE, Deciu C, Kloza EM, et al. DNA sequencing of maternal plas- ma reliably identifies trisomy 18 and trisomy 13 as well as Down synd- rome: an international collaborative study. Genet Med 2012;14:296-305.
39. Ashoor G, Syngelaki A, Wang E, et al. Trisomy 13 detection in the firsttri- mester of pregnancy using a chromosome-selective cell-free DNA analy- sis method. Ultrasound Obstet Gynecol 2013;41:21-5.
40. Coory MD, Roselli T, Carroll HJ. Antenatal care implications of populati- on-based trends in Down syndrome birth rates by rurality and antenatal care provider, Queensland, 1990-2004. Med J Aust 2007;186:230-4
41. Srinivasan A, Bianchi DW, Huang H, Sehnert AJ, Rava RP Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma.Am J Hum Genet. 2013 Feb 7;92:167-76