Performance of first-trimester combined test for Down syndrome in different maternal age groups: Reason for adjustments in screening policy?

Prenatal Diagnosis

Volumn 31, Issue 13, 2011, Pages 1241-1245

  Engels, Melanie A J ^a   Heijboer, A C ^a   Blankenstein, Marinus A ^a   van Vugt, John M G ^a,b  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Down syndrome; First trimester screening; Free hCG; Invasive testing; Maternal age; Nuchal translucency thickness; PAPP A

Indexed keywords

CHORIONIC GONADOTROPIN BETA SUBUNIT; PREGNANCY ASSOCIATED PLASMA PROTEIN A;

ADULT; AGE DISTRIBUTION; AGED; ANEUPLOIDY; ARTICLE; CHROMOSOME DELETION; CHROMOSOME INVERSION; CHROMOSOME TRANSLOCATION; DIAGNOSTIC TEST; DOWN SYNDROME; EDWARDS SYNDROME; FALSE POSITIVE RESULT; FEMALE; FETUS; FIRST TRIMESTER COMBINED TEST; HEALTH CARE POLICY; HORMONE BLOOD LEVEL; HUMAN; MAJOR CLINICAL STUDY; MATERNAL AGE; MOSAICISM; NEWBORN SCREENING; NUCHAL TRANSLUCENCY MEASUREMENT; PATAU SYNDROME; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RETROSPECTIVE STUDY; SEX CHROMOSOME ABERRATION; TRIPLOIDY; TURNER SYNDROME;

ADULT; AGE FACTORS; BIOLOGICAL MARKERS; CHORIONIC GONADOTROPIN, BETA SUBUNIT, HUMAN; DOWN SYNDROME; FALSE POSITIVE REACTIONS; FEMALE; HUMANS; MIDDLE AGED; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PREGNANCY-ASSOCIATED PLASMA PROTEIN-A; PRENATAL DIAGNOSIS; RETROSPECTIVE STUDIES; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY;

EID: 82255192321     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2873     Document Type: Article

References (28)

1. Cunningham CC, Sloper T. 1977. Parents of Down's syndrome babies: their early needs. Child Care Health Dev 3: 325-347.
2. Egan JFX, Benn P, Borgida AF, Rodis JF, Campbell WA, Vintzileos AM. 2000. Efficacy of screening for fetal Down syndrome in the United States States from 1974-1997. Obstet Gynecol 96: 979-985.
3. Gebb J, Dar P. 2009. Should the first-trimester aneuploidy screen be maternal age adjusted? Screening by absolute risk versus risk adjusted to maternal age. Prenat Diagn 29: 245-247.
4. Go AT, Hupkes HW, Lomecky M, Twisk J, Blankenstein JM, van Vugt JM. 2005. Evaluation of a programme for the prenatal screening for Down's syndrome by ultrasonographic nuchal translucency measurement and serum determinations in the first trimester of pregnancy. Ned Tijdschr Geneeskd 149: 2795-2799.
5. Helm DT, Miranda S, Chedd NA. 1998. Prenatal diagnosis of Down syndrome: mothers' reflections on supports needed from diagnosis to birth. Ment Retard 36: 55-61.
6. Hörmansdörfer C, Golatta M, Scharf A, Hillemans P, Schmidt P. 2011. Age-independent first-trimester screening for Down syndrome: analysis of three modified software programs with 6, 508 pregnancies. Arch Gynecol Obstet 283: 749-754.
7. Kagan KO, Wright D, Baker A, Sahota D, Nicolaides KH. 2008. Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 31: 618-624.
8. Kleinveld JH, Timmermans DRM, van de Berg M, van Eijk JThM, van Vugt JMG, van der Wal G. 2008. Does offering prenatal screening influence pregnant women's attitudes regarding prenatal testing? Comm Genet 11: 368-374.
9. Linskens IH, Levitus M, Frans A, et al. 2009. Performance of free beta-human chorionic gonadotrophin (free beta-hCG) and pregnancy associated plasma protein-A (PAPP-A) analysis between Delfia Xpress and AutoDelfia systems in NLD. Clin Chem Lab Med 47: 222-226.
10. Nicolaides KH, Spencer K, Avgidou K, Faiola S, Falcon O. 2005. Multicenter study of first-trimester screeningfor trisomy 21 in 75821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening. Ultrasound Obstet Gynecol 25: 221-226.
11. Resta RG. 2005. 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 counselling. Am J Med Gen 133A: 31-36.
12. Reynolds TM, Nix AB, Dunstand FD, Dawson AJ. 1993. Age-specific detection and false-positive rates: An aid to counselling in Down syndrome screening. Am J Obstet Gynecol 81: 447-450.
13. Schielen PCJI, van Leeuwen-Spruijt M, Belmouden I, Elvers LH, Jonker M, Loeber JG. 2006. Multi-centre First-trimester screening for Down syndrome in the Netherlands in routine clinical practice. Prenat Diagn 26: 711-718.
14. Schmidt P, Hörmansdörfer C, Pruggemayer M, et al. 2008. Improved prenatal aneuploidy screening using the novel advanced first-trimester screening algorithm: a multicenter study of 10, 017 pregnancies. J Clin Ultrasound 36: 397-402.
15. Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH. 1998. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal translucency thickness at 10-14weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet 352: 343-346.
16. Snijders RJM, Sundberg K, Holzgreve W, Henry G, Nicolaides KH. 1999. Maternal age- and gestation-specific risk for trisomy 21. Ultrasound Obstet Gynecol 13: 167-170.
17. Spencer K. 2001. Age related detection and false positive rates when screening for Down syndrome in the first trimester using fetal nuchal translucency and maternal serum free beta hCG and PAPP-A. Brit J Obstet Gynecol 108: 1043-1046.
18. Spencer K. 2007. Aneuploidy screening in the first-trimester. Am J Med Genet Part C Semin Med Genet 145C: 18-32.
19. Spencer K, Spencer CE, Power M, Dawson C, Nicolaides KH. 2003. Screening for chromosomal abnormalities in the first-trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three prospective experience. BJOG 110: 281-286.
20. Van den Berg M, Timmermans DRM, Kleinveld A, Garcia E, van Vugt JMG, van der Wal G. 2005a. Accepting or declining the offer of prenatal screening for congenital defects: test uptake and women's reasons. Prenat Diagn 25: 84-90.
21. Van den Berg M, Timmermans DRM, Kleinveld A, et al. 2007. Are counsellors attitudes influencing pregnant women's attitudes and decisions about prenatal screening? Prenat Diagn 27: 518-524.
22. Van den Berg M, Timmermans DRM, Knol DL, et al. 2008. Understanding pregnant women's decision making concerning prenatal screening. Health Psych 27: 430-437.
23. Van den Berg M, Timmermans DRM, ten Kate LP, van Vugt JMG, van der Wal G. 2005b. Are pregnant women making informed choices about prenatal screening? Genet Med 7: 332-338.
24. Van den Berg M, Timmermans DR, ten Kate LP, van Vugt JM, van der Wal G. 2006. Informed decision making in the context of prenatal screening. Patient Educ Couns 63: 110-117.
25. Wald NJ, Rodeck C, Hackshaw AK, Rudnicka A. 2005. SURUSS in perspective. Semin Perinatol 29: 225-235.
26. Wapner R, Thom E, Simpson JL, et al. 2003. First-trimester screening for trisomies 13 and 18. New Engl J Med 349: 1405-1413.
27. Wortelboer EJ, Koster MPH, Stoutenbeek P, et al. 2009. First-trimester Down syndrome screening performance in the Dutch population; how to achieve further improvement? Prenat Diagn 29: 588-592.
28. Yildirim A, Yildirim MS. 2010. Hopelessness of mothers who have children with Down syndrome. Genet Couns 21: 375-380.