What are the predominant parameters for Down syndrome risk estimation in firsttrimester screening: a data mining study

solak, semra; Serdar, Muhittin A.; Serteser, Mustafa; aksungar, fehime benli; Yayla, Murat; Göğüş, Şerife Sema; KILERCIK, MELTEM; YOZGAT, İhsan; Kaya, Zelal Zuhal

doi:10.1515/tjb-2022-0004

What are the predominant parameters for Down syndrome risk estimation in firsttrimester screening: a data mining study

MELTEM KILERCIK, (Acıbadem Mehmet Ali Aydınlar Üniversitesi, Tıp Fakültesi, Tıbbi Biyokimya Departmanı, İstanbul, Türkiye)

İhsan YOZGAT, (Acıbadem Mehmet Ali Aydınlar Üniversitesi, Tıbbi Biyoteknoloji Anabilim Dalı, İstanbul, Türkiye)

Muhittin A. SERDAR, (Acıbadem Mehmet Ali Aydınlar Üniversitesi, Tıp Fakültesi, Tıbbi Biyokimya Bölümü, İstanbul, Türkiye)

fehime benli aksungar, (Acıbadem Mehmet Ali Aydınlar Üniversitesi, Tıp Fakültesi, Tıbbi Biyokimya Departmanı, İstanbul, Türkiye)

Şerife Sema Göğüş, (Acıbadem Labmed Laboratuvarları, İstanbul, Türkiye)

Semra SOLAK, (Acıbadem Labmed Laboratuvarları, İstanbul, Türkiye)

Zelal Zuhal KAYA, (Acıbadem Mehmet Ali Aydınlar Üniversitesi, Tıbbi Biyokimya Anabilim Dalı, İstanbul, Türkiye)

Murat YAYLA, (Acıbadem Kozyatağı Hastanesi, Perinatoloji Anabilim Dalı, İstanbul, Türkiye)

Mustafa SERTESER (Acıbadem Mehmet Ali Aydınlar Üniversitesi, Tıp Fakültesi, Tıbbi Biyokimya Departmanı, İstanbul, Türkiye)

Türk Biyokimya Dergisi

1 0

Yıl: 2022 Cilt: 47 Sayı: 6 Sayfa Aralığı: 704 - 709 Metin Dili: İngilizce DOI: 10.1515/tjb-2022-0004 İndeks Tarihi: 22-05-2023

What are the predominant parameters for Down syndrome risk estimation in firsttrimester screening: a data mining study

Öz:

Objectives: This study aimed to evaluate the effect size of each parameter used in the first trimester Down syndrome (DS) risk analyses by using multiple regression analysis techniques. Methods: This data mining study included data of 44,260 pregnant women screened at the Acibadem Labmed laboratories from 2010 to 2019. In this study, risk was calculated using the PRISCA software on the basis of nuchal translucency (NT), crown-rump length measurement, in vitro fertilization application, diabetes mellitus, Down syndrome story, smoking, maternal age, and the level of maternal serum biochemistry markers including pregnancy-associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotropin (hCGβ). Results: Forty-four thousand two hundred sixty risk analysis patients result data were re-investigate, and 851 (1.93%) risk analysis results were found as positive. PAPP-A 747 (CI%, 476–1,170) times, NT value 512 (CI%, 343–764) times, DS story 21 times (CI%, 6.7–63.2) and hCGβ value 7.01 (CI%, 6.31–7.79) times affect the combined firsttrimester risk analysis results. Conclusions: We have suggested that those accurate PAPP-A levels and NT levels evaluation are the most critical point of combined risk analysis and that the risk of free hCGβ levels after PAPP-A is essential as a biochemical test.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık

1. Epstein CJ. Down syndrome (trisomy 21). In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease, 8th ed. New York: McGraw-Hill; 2001: 1223 p.
2. Nicolaides KH, Heath V, Liao AW. The 11–14 week scan. Baillieres Best Pract Res Clin Obstet Gynaecol 2000;14:581–94.
3. Volpe EP. Is down syndrome a modern disease? Perspect Biol Med 1986;29:423–36.
4. Sheets KB, Crissman BG, Feist CD, Sell SL, Johnson LR, Donahue KC, et al. Practice guidelines for communicating a prenatal or postnatal diagnosis of down syndrome: recommendations of the national society of genetic counselors. J Genet Couns 2011;20:432–41.
5. Canick JA, Kellner LH. First trimester screening for aneuploidy: serum biochemical markers. Semin Perinatol 1999;23:359.
6. Wald NJ, Hackshaw AK. Combining ultrasound and biochemistry in first-trimester screening for down’s syndrome. Prenat Diagn 1997;17:821.
7. Wenstrom KD. Evaluation of down syndrome screening strategies. Semin Perinatol 2005;29:219–24.
8. American College of Obstetricians and Gynecologists. ACOG practice bulletin no. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol 2007;110:1459.
9. ACOG Committee on Practice Bulletins. ACOG practice bulletin no. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol 2007;109:217.
10. Canick JA, Lambert-Messerlian GM, Palomaki GE, Neveux LM, Malone FD, Ball RH, et al. Comparison of serum markers in firsttrimester down syndrome screening. Obstet Gynecol 2006;108: 1192.
11. Palomaki GE, Lambert-Messerlian GM, Canick JA. A summary analysis of down syndrome markers in the late first trimester. Adv Clin Chem 2007;43:177.
12. Evans MI, Krantz DA, Hallahan TW, Galen RS. Meta-analysis of first trimester down syndrome screening studies: free betahuman chorionic gonadotropin significantly outperforms intact human chorionic gonadotropin in a multimarker protocol. Am J Obstet Gynecol 2007;196:198.
13. Kagan KO, Wright D, Spencer K, Molina FS, Nicolaides KH. Firsttrimester screening for trisomy 21 by free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A: impact of maternal and pregnancy characteristics. Ultrasound Obstet Gynecol 2008;31:493–502.
14. Wald NJ, Rodeck C, Hackshaw AK, Rudnicka A. SURUSS in perspective. BJOG 2004;111:521.
15. Nicolaides KH, Azar G, Byrne D, Mansur C, Marks K. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. BMJ 1992;304:867–9.
16. Spencer K, Bindra R, Nix AB, Heath V, Nicolaides KH. Delta-NT or NT MoM: which is the most appropriate method for calculating accurate patient-specific risks for trisomy 21 in the first trimester? Ultrasound Obstet Gynecol 2003;22:142–8.
17. Cuckle H, Platt LD, Thornburg LL, Bromley B, Fuchs K, Abuhamad A, et al. Nuchal translucency quality review (NTQR) program: first one and half million results. Ultrasound Obstet Gynecol 2015;45:199.
18. Hermann M, Fries N, Mangione R, Boukobza P, Ville Y, Salomon LJ, et al. Nuchal translucency measurement: are qualitative and quantitative quality control processes related? Prenat Diagn 2013;33:770.
19. Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM, et al. First and second trimester antenatal screening for down’s syndrome: the results of the serum, urine and ultrasound screening study (SURUSS). Health Technol Assess 2003;7:1.
20. Malone FD, Canick JA, Ball RH, Nyberg DA, Comstock CH, Bukowski R, et al. First-trimester or second-trimester screening, or both, for down’s syndrome. N Engl J Med 2005;353:2001–11.
21. American College of Obstetricians and Gynecologists Committee on Genetics and the Society for Maternal-Fetal Medicine. Committee opinion no. 640: cell-free DNA screening for fetal aneuploidy. Obstet Gynecol. 2015;126:e31.
22. Allyse MA, Wick MJ. Noninvasive prenatal genetic screening using cell-free DNA. JAMA 2018;320:591.
23. Sennels HP, Jørgensen FS, Sørensen S. Biological variation of free β chorionic gonadotropin and pregnancy-associated plasma protein a in first trimester pregnancies. Clin Chem Lab Med 2011; 49:291–5.
24. Durković J, Ubavić M, Durković M, Kis T. Prenatal screening markers for down syndrome: sensitivity, specificity, positive and negative expected value method. J Med Biochem 2018;37: 62–6.
25. Guanciali-Franchi P, Iezzi I, Matarrelli B, Morizio E, Calabrese G, Palka G. Effectiveness of crosstrimester test in selecting high-risk pregnant women to undergo invasive prenatal diagnosis. Prenat Diagn 2010;30:795–6.
26. Non-invasive prenatal testing: a review of the cost-effectiveness and guidelines: Canadian Agency for Drugs and Technologies in Health; 2014, CADTH Rapid Response Reports. https://pubmed. ncbi.nlm.nih.gov/25654151.
27. Alldred SK, Takwoingi Y, Guo B, Pennant M, Deeks JJ, Neilson JP, et al. First trimester serum tests for down’s syndrome screening. Cochrane Database Syst Rev 2015;2015:CD011975.
28. Wøjdemann KR1, Larsen SO, Rode L, Shalmi A, Sundberg K, Christiansen M, et al. First trimester down syndrome screening: distribution of markers and comparison of assays for quantification of pregnancy-associated plasma protein-A. Scand J Clin Lab Invest 2006;66:101–11.
29. Spencer K, Souter V, Tul N, Snijders R, Nicolaides KH. A screening program for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 1999;13:231–7.
30. Sørensen S, Momsen G, Sundberg K, Friis-Hansen L, Jørgensen FS. First-trimester risk calculation for trisomy 13, 18, and 21: comparison of the screening efficiency between 2 locally developed programs and commercial software. Clin Chem 2011;57:1023–31.
31. Engell AE, Carlsson ER, Jørgensen FS, Sørensen S. Comparison of two immunoassay systems for hCGβ and PAPP-A in prenatal screening for trisomy 21, 18, and 13 in the first trimester. Pract Lab Med 2017;9:18–23.
32. Serdar MA, Tütüncü L, Olgun A, Haşimi A, Ozgurtaş T, ErbilMK. The effects of analytical factors on second trimester risk estimations. Int J Gynaecol Obstet 2006;93:28–32.
33. Brambati B, Macintosh MC, Teisner B, Maguiness S, Shrimanker K, Lanzani A, et al. Low maternal serum levels of pregnancy associated plasma protein A (PAPP-A) in the first trimester in association with abnormal fetal karyotype. Br J Obstet Gynaecol 1993;100:324–6.
34. Fries N, Althuser M, Fontanges M, Talmant C, Jouk PS, Tindel M, et al. Quality control of an image-scoring method for nuchal translucency ultrasonography. Am J Obstet Gynecol 2007;196: 272e1–5.
35. Gabriel CC, Echevarria M, Rodríguez I, Serra B. Analysis of quality of nuchal translucency measurements: its role in prenatal diagnosis. Sci World J 2012;2012:482832.
36. Alldred SK, Takwoingi Y, Guo B, Pennant M, Deeks JJ, Neilson JP, et al. First and second trimester serum tests with and without first trimester ultrasound tests for down’s syndrome screening. Cochrane Database Syst Rev 2017;2017.
37. Comstock CH, Bukowski R, Berkowitz RL, Gross SJ, Dugoff L, Craigo SD, et al. N Engl J 2005:2001–11.
38. Cuckle HS, Malone FD, Wright D, Porter TF, Nyberg DA, Comstock CH, et al. Contingent screening for down syndrome – results from the FaSTER trial. Prenat Diagn 2008; 28:89–94.

APA	KILERCIK M, YOZGAT İ, Serdar M, aksungar f, Göğüş Ş, solak s, Kaya Z, Yayla M, Serteser M (2022). What are the predominant parameters for Down syndrome risk estimation in firsttrimester screening: a data mining study. , 704 - 709. 10.1515/tjb-2022-0004
Chicago	KILERCIK MELTEM,YOZGAT İhsan,Serdar Muhittin A.,aksungar fehime benli,Göğüş Şerife Sema,solak semra,Kaya Zelal Zuhal,Yayla Murat,Serteser Mustafa What are the predominant parameters for Down syndrome risk estimation in firsttrimester screening: a data mining study. (2022): 704 - 709. 10.1515/tjb-2022-0004
MLA	KILERCIK MELTEM,YOZGAT İhsan,Serdar Muhittin A.,aksungar fehime benli,Göğüş Şerife Sema,solak semra,Kaya Zelal Zuhal,Yayla Murat,Serteser Mustafa What are the predominant parameters for Down syndrome risk estimation in firsttrimester screening: a data mining study. , 2022, ss.704 - 709. 10.1515/tjb-2022-0004
AMA	KILERCIK M,YOZGAT İ,Serdar M,aksungar f,Göğüş Ş,solak s,Kaya Z,Yayla M,Serteser M What are the predominant parameters for Down syndrome risk estimation in firsttrimester screening: a data mining study. . 2022; 704 - 709. 10.1515/tjb-2022-0004
Vancouver	KILERCIK M,YOZGAT İ,Serdar M,aksungar f,Göğüş Ş,solak s,Kaya Z,Yayla M,Serteser M What are the predominant parameters for Down syndrome risk estimation in firsttrimester screening: a data mining study. . 2022; 704 - 709. 10.1515/tjb-2022-0004
IEEE	KILERCIK M,YOZGAT İ,Serdar M,aksungar f,Göğüş Ş,solak s,Kaya Z,Yayla M,Serteser M "What are the predominant parameters for Down syndrome risk estimation in firsttrimester screening: a data mining study." , ss.704 - 709, 2022. 10.1515/tjb-2022-0004
ISNAD	KILERCIK, MELTEM vd. "What are the predominant parameters for Down syndrome risk estimation in firsttrimester screening: a data mining study". (2022), 704-709. https://doi.org/10.1515/tjb-2022-0004

APA	KILERCIK M, YOZGAT İ, Serdar M, aksungar f, Göğüş Ş, solak s, Kaya Z, Yayla M, Serteser M (2022). What are the predominant parameters for Down syndrome risk estimation in firsttrimester screening: a data mining study. Türk Biyokimya Dergisi, 47(6), 704 - 709. 10.1515/tjb-2022-0004
Chicago	KILERCIK MELTEM,YOZGAT İhsan,Serdar Muhittin A.,aksungar fehime benli,Göğüş Şerife Sema,solak semra,Kaya Zelal Zuhal,Yayla Murat,Serteser Mustafa What are the predominant parameters for Down syndrome risk estimation in firsttrimester screening: a data mining study. Türk Biyokimya Dergisi 47, no.6 (2022): 704 - 709. 10.1515/tjb-2022-0004
MLA	KILERCIK MELTEM,YOZGAT İhsan,Serdar Muhittin A.,aksungar fehime benli,Göğüş Şerife Sema,solak semra,Kaya Zelal Zuhal,Yayla Murat,Serteser Mustafa What are the predominant parameters for Down syndrome risk estimation in firsttrimester screening: a data mining study. Türk Biyokimya Dergisi, vol.47, no.6, 2022, ss.704 - 709. 10.1515/tjb-2022-0004
AMA	KILERCIK M,YOZGAT İ,Serdar M,aksungar f,Göğüş Ş,solak s,Kaya Z,Yayla M,Serteser M What are the predominant parameters for Down syndrome risk estimation in firsttrimester screening: a data mining study. Türk Biyokimya Dergisi. 2022; 47(6): 704 - 709. 10.1515/tjb-2022-0004
Vancouver	KILERCIK M,YOZGAT İ,Serdar M,aksungar f,Göğüş Ş,solak s,Kaya Z,Yayla M,Serteser M What are the predominant parameters for Down syndrome risk estimation in firsttrimester screening: a data mining study. Türk Biyokimya Dergisi. 2022; 47(6): 704 - 709. 10.1515/tjb-2022-0004
IEEE	KILERCIK M,YOZGAT İ,Serdar M,aksungar f,Göğüş Ş,solak s,Kaya Z,Yayla M,Serteser M "What are the predominant parameters for Down syndrome risk estimation in firsttrimester screening: a data mining study." Türk Biyokimya Dergisi, 47, ss.704 - 709, 2022. 10.1515/tjb-2022-0004
ISNAD	KILERCIK, MELTEM vd. "What are the predominant parameters for Down syndrome risk estimation in firsttrimester screening: a data mining study". Türk Biyokimya Dergisi 47/6 (2022), 704-709. https://doi.org/10.1515/tjb-2022-0004