Journal List > Korean J Obstet Gynecol > v.53(12) > 1006367

Korean J Obstet Gynecol. 2010 Dec;53(12):1041-1046. Korean.
Published online December 21, 2010.  https://doi.org/10.5468/kjog.2010.53.12.1041
Copyright © 2010 Korean Society of Obstetrics and Gynecology
Prenatal screening for Down syndrome
Eui Jung, M.D.
Department of Obstetrics and Gynecology, Kyung Hee University School of Medicine, Seoul, Korea.

Corresponding author (Email: eui2536@hotmail.com )
Received October 14, 2010; Accepted November 04, 2010.

Abstract

In the past decades, numerous markers and strategies for Down syndrome screening have been developed. With the recent acceptance of first trimester and integrated screening as a part of routine clinical practice, there are now a variety of accepted screening protocols for Down syndrome. These choices can be confusing both to patients and clinicians. First trimester screening is at least as accurate as traditional second trimester screening and provides results earlier. Combining first and second trimester results increases the sensitivity and specificity of screening and reduces the number of women requiring invasive testing. However, the decision to screen and to perform invasive confirmative testing is a personal one that may be influenced by the presence or absence of a family history of aneuploidy or genetic disorders and by the woman's obstetrical and medical history, attitudes and beliefs about termination of pregnancy, education, religious beliefs, and economic concerns. The purpose of this article is to outline the various options in prenatal screening, and their individual advantages and disadvantages.

Keywords: Down syndrome; Prenatal screening

Tables


 Table 1
Down syndrome screening tests and false positive rate8
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Table 2
Combined first-trimester screening prospective study outcomes (5% false positive rate)
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Table 3
Down Syndrome screening tests and detection rates (5% false positive rate)
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References
1. Merkatz IR, Nitowsky HM, Macri JN, Johnson WE. An association between low maternal serum alpha-fetoprotein and fetal chromosomal abnormalities. Am J Obstet Gynecol 1984;148:886–894.
2. ACOG Committee on Practice Bulletins. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol 2007;109:217–227.
3. Cuckle H. Biochemical screening for Down syndrome. Eur J Obstet Gynecol Reprod Biol 2000;92:97–101.
4. 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;13:231–237.
5. Benn PA. Advances in prenatal screening for Down syndrome: I. general principles and second trimester testing. Clin Chim Acta 2002;323:1–16.
6. Benn PA, Gainey A, Ingardia CJ, Rodis JF, Egan JF. Second trimester maternal serum analytes in triploid pregnancies: correlation with phenotype and sex chromosome complement. Prenat Diagn 2001;21:680–686.
7. Saller DN Jr, Canick JA, Oyer CE. The detection of non-immune hydrops through second-trimester maternal serum screening. Prenat Diagn 1996;16:431–435.
8. Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM. 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.
9. Nicolaides KH, Snijders RJ, Gosden CM, Berry C, Campbell S. Ultrasonographically detectable markers of fetal chromosomal abnormalities. Lancet 1992;340:704–707.
10. 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;353:2001–2011.
11. Dugoff L, Hobbins JC, Malone FD, Porter TF, Luthy D, Comstock CH, et al. First-trimester maternal serum PAPP-A and free-beta subunit human chorionic gonadotropin concentrations and nuchal translucency are associated with obstetric complications: a population-based screening study (the FASTER Trial). Am J Obstet Gynecol 2004;191:1446–1451.
12. Smith GC, Shah I, Crossley JA, Aitken DA, Pell JP, Nelson SM, et al. Pregnancy-associated plasma protein A and alpha-fetoprotein and prediction of adverse perinatal outcome. Obstet Gynecol 2006;107:161–166.
13. Spencer K, Wallace EM, Ritoe S. Second-trimester dimeric inhibin-A in Down's syndrome screening. Prenat Diagn 1996;16:1101–1110.
14. Wald NJ, Kennard A, Hackshaw A, McGuire A. Antenatal screening for Down's syndrome. Health Technol Assess 1998;2:I–iv. 1–112.
15. Groome NP, Evans LW. Does measurement of inhibin have a clinical role? Ann Clin Biochem 2000;37(Pt 4):419–431.
16. Breathnach FM, Malone FD, Lambert-Messerlian G, Cuckle HS, Porter TF, Nyberg DA, et al. First- and second-trimester screening: detection of aneuploidies other than Down syndrome. Obstet Gynecol 2007;110:651–657.
17. Wald NJ, Watt HC, Hackshaw AK. Integrated screening for Down's syndrome on the basis of tests performed during the first and second trimesters. N Engl J Med 1999;341:461–467.
18. Cuckle H, Benn P, Wright D. Down syndrome screening in the first and/or second trimester: model predicted performance using meta-analysis parameters. Semin Perinatol 2005;29:252–257.
19. 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.
20. Knight GJ, Palomaki GE, Neveux LM, Smith DE, Kloza EM, Pulkkinen AJ, et al. Integrated serum screening for Down syndrome in primary obstetric practice. Prenat Diagn 2005;25:1162–1167.
21. Platt LD, Greene N, Johnson A, Zachary J, Thom E, Krantz D, et al. Sequential pathways of testing after first-trimester screening for trisomy 21. Obstet Gynecol 2004;104:661–666.
22. Spencer K. Screening for trisomy 21 in twin pregnancies in the first trimester: does chorionicity impact on maternal serum free beta-hCG or PAPP-A levels? Prenat Diagn 2001;21:715–717.
23. Neveux LM, Palomaki GE, Knight GJ, Haddow JE. Multiple marker screening for Down syndrome in twin pregnancies. Prenat Diagn 1996;16:29–34.
24. 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;349:1405–1413.
25. 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. BJOG 2003;110:281–286.
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