Combined screening test for trisomy 21 – is it as efficient as we believe?

References

[1] Spencer K, Spencer CE, Power M, Dawson C, Nicolaides KH. Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years prospective experience. Br J Obstet Gynaecol. 2003;110:281–6.10.1046/j.1471-0528.2003.02246.xSearch in Google Scholar

[2] Nicolaides KH, Spencer K, Avgidou K, Faiola S, Falcon O. Multicenter study of first trimester screening for trisomy 21 in 75821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening. Ultrasound Obstet Gynecol. 2005;25:221–6.10.1002/uog.1860Search in Google Scholar PubMed

[3] Kagan KO, Wright D, Baker A, Sahota D, Nicolaides KH. 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. 2008;31:618–24.10.1002/uog.5331Search in Google Scholar PubMed

[4] Wald NJ, Rodeck C, Hackshaw AK, Rudnicka A. SURUSS in perspective. Semin Perinatol 2005;29:225–35.10.1053/j.semperi.2005.05.006Search in Google Scholar PubMed

[5] Go AT, Hupkes HW, Lomecky M, Twisk J, Blankenstein JM, van Vugt JM. 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 2005;149:2795–9.Search in Google Scholar

[6] Engels MAJ, Heijboer AC, Blankenstein MA, Van Vugt JMG. Performance of first-trimester combined test for Down syndrome in different maternal age groups: reason for adjustments in screening policy? Prenat Diagn 2011;31:1241–5.10.1002/pd.2873Search in Google Scholar PubMed

[7] Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2015;45:249–66.10.1002/uog.14791Search in Google Scholar PubMed

[8] Everett TR, Chitty LS. Cell-free fetal DNA: the new tool in Fetal Medicine. Ultrasound Obstet Gynecol. 2015;45:499–507.10.1002/uog.14746Search in Google Scholar PubMed PubMed Central

[9] Zhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, et al. Noninvasive prenatal testing for trisomy 21, 18 and 13-clinical experience from 146,958 pregnancies. Ultrasound Obstet Gynecol. 2015;45:530–8.10.1002/uog.14792Search in Google Scholar PubMed

[10] Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 2011;31:7–15.10.1002/pd.2637Search in Google Scholar PubMed

[11] Wiechec M, Knafel A, Nocun A, Matyszkiewicz A, Juszczak M, Wiercinska E, et al. How effective is first-trimester screening for Trisomy 21 based on Ultrasound only? Fetal Diagn Ther. 2016;39:105–12.10.1159/000434632Search in Google Scholar PubMed

[12] Abele H, Wagner P, Sonek J, Hoopmann M, Brucker S, Artunc-Ulkumen B, et al. First trimester ultrasound screening for Down syndrome based on maternal age, fetal nuchal translucency and different combinations of the additional markers nasal bone, tricuspid and ductus venosus flow. Prenat Diagn. 2015;35:1182–6.10.1002/pd.4664Search in Google Scholar PubMed

[13] Wapner R, Thom E, Simpson JL, Pergament E, Silver R, Filkins K, et al. First-trimester screening for trisomies 21 and 18. N Engl J Med. 2003;349:1405–13.10.1056/NEJMoa025273Search in Google Scholar PubMed

[14] Gebb J, Dar P. Should the first-trimester aneuploidy screen be maternal age adjusted? Screening by absolute risk versus risk adjusted to maternal age. Prenat Diagn. 2009;29:245–7.10.1002/pd.2157Search in Google Scholar PubMed

[15] Schmidt P, Hörmansdörfer C, Golatta M, Scharf A. Analysis of the distribution shift of detected aneuploidies by age independent first trimester screening. Arch Gynecol Obstet. 2010;281:393–9.10.1007/s00404-009-1137-6Search in Google Scholar PubMed

[16] Engels MA, Twisk JW, Blankenstein MA, van Vugt JM. Age independent first trimester screening for Down syndrome: improvement in test performance. Prenat Diagn. 2013;33:884–8.10.1002/pd.4153Search in Google Scholar PubMed

[17] Liao A, Sebire N, Geerts L, Cicero C, Nicolaides KH. Megacystis at 10–14 weeks of gestation: chromosomal defects and outcome according to bladder length. Ultrasound Obstet Gynecol. 2003;21:338–41.10.1002/uog.81Search in Google Scholar PubMed

[18] Kagan KO, Staboulidou I, Syngelaki A, Cruz J, Nicolaides KH. The 11–13-week scan diagnosis and outcome of holoprosencephaly, exomphalos and megacystis. Ultrasound Obstet Gynecol. 2010;36:10–4.10.1002/uog.7646Search in Google Scholar PubMed

[19] Tørring N, Petersen OB, Uldbjerg N. Ten years of experience with first-trimester screening for fetal aneuploidy employing biochemistry from gestational weeks 6+0 to 13+6. Fetal Diagn Ther. 2015;37:51–7.10.1159/000362665Search in Google Scholar PubMed

[20] Kotarski J, Wielgos M. Rekomendacje Polskiego Towarzystwa Ginekologicznego dotyczące postępowania w zakresie diagnostyki prenatalnej. Ginekol Pol 2009;80:390–3.Search in Google Scholar

[21] American Institute of Ultrasound in Medicine. AIUM practice guideline for the performance of obstetric ultrasound examinations. J Ultrasound Med. 2010;29:157–66.10.7863/jum.2010.29.1.157Search in Google Scholar PubMed

[22] Fetal Echocardiography Task Force; American Institute of Ultrasound in Medicine Clinical Standards Committee; American College of Obstetricians and Gynecologists; Society for Maternal-Fetal Medicine. AIUM practice guideline for the performance of fetal echocardiography. J Ultrasound Med. 2011;30:127–36.10.7863/jum.2011.30.1.127Search in Google Scholar PubMed

[23] 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;7:1–77.10.3310/hta7110Search in Google Scholar PubMed

[24] 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;353:2001–11.10.1056/NEJMoa043693Search in Google Scholar PubMed

[25] Lee FK, Chen LC, Cheong ML, Chou CY, Tsai MS. First trimester combined test for Down syndrome screening in unselected pregnancies-a report of a 13-year experience. Taiwan J Obstet Gynecol. 2013;52:523–6.10.1016/j.tjog.2013.10.012Search in Google Scholar PubMed

[26] Nicolaides, KH, Wright D, Poon LC, Syngelaki A, Gil MM. First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol. 2013;42;41–50.10.1002/uog.12511Search in Google Scholar PubMed

[27] Avgidou K, Papageorghiou A, Bindra R, Spencer K, Nicolaides KH. Prospective first-trimester screening for trisomy 21 in 30,564 pregnancies. Am J Obstet Gynecol. 2005;192:1761–7.10.1016/j.ajog.2005.03.021Search in Google Scholar PubMed

[28] Wapner RJ. First trimester screening: the BUN study. Semin Perinatol. 2005;29:236–9.10.1053/j.semperi.2005.05.013Search in Google Scholar PubMed

[29] Lau GW, Feldman DS, Morales CM, Smith D, Edwards R, Williams J 3rd. First-trimester aneuploidy screening: is there a maternal age at which it loses effectiveness? J Reprod Med. 2014;59:443–7.Search in Google Scholar

[30] Centini G, Rosignoli L, Scarinci R, Faldini E, Morra C, Centini G, Petraglia F. Re-evaluation of risk for Down syndrome by means of the combined test in pregnant women of 35 years or more. Prenat Diagn. 2005;25:133–6.10.1002/pd.1036Search in Google Scholar PubMed

[31] Nicolaides KH, Wright D, Poon LC, Syngelaki A, Gil MM. First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol. 2013;42;41–50.10.1002/uog.12511Search in Google Scholar