Improved prenatal aneuploidy screening using the novel advanced first-trimester screening algorithm: A multicenter study of 10,017 pregnancies

Journal of Clinical Ultrasound

Volumn 36, Issue 7, 2008, Pages 397-402

  Schmidt, Peter ^a   Hörmansdörfer, Cindy ^a   Pruggmayer, Michael ^b   Schütte, Christian ^c   Neumann, Armin ^d   Gerritzen, Andreas ^e   Vaske, Bernhard ^a   Hillemanns, Peter ^f   Scharf, Alexander ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b Institute for Prenatal Diagnostic and Human Genetics (HumGen)   (Germany)

^c Civic Hospital Links der Weser ^*  (Germany)

^d Klinikum Links der Weser   (Germany)

^e Medizinisches Labor Bremen   (Germany)

^f UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Advanced first trimester screening; Nuchal translucency; Risk assessment; Sonography; Trisomy 21

Indexed keywords

CHORIONIC GONADOTROPIN BETA SUBUNIT; PREGNANCY ASSOCIATED PLASMA PROTEIN A;

ADOLESCENT; ADULT; ADVANCED FIRST TRIMESTER SCREENING; ALGORITHM; ANALYTIC METHOD; ANEUPLOIDY; ARTICLE; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DOWN SYNDROME; FALSE POSITIVE RESULT; FEMALE; FETUS; FETUS MALFORMATION; HUMAN; HUMAN CELL; KARYOTYPING; MAJOR CLINICAL STUDY; MATERNAL AGE; MULTICENTER STUDY; NICOLAIDES METHOD; NUCHAL TRANSLUCENCY MEASUREMENT; PRENATAL SCREENING; RISK ASSESSMENT; SCORING SYSTEM; SENSITIVITY ANALYSIS; TRISOMY 21;

ADOLESCENT; ADULT; ALGORITHMS; ANEUPLOIDY; CHORIONIC GONADOTROPIN, BETA SUBUNIT, HUMAN; CROWN-RUMP LENGTH; FEMALE; FETAL DISEASES; GENETIC SCREENING; HUMANS; MATERNAL AGE; NUCHAL TRANSLUCENCY MEASUREMENT; PREDICTIVE VALUE OF TESTS; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PREGNANCY-ASSOCIATED PLASMA PROTEIN-A; RETROSPECTIVE STUDIES; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; YOUNG ADULT;

EID: 50249111413     PISSN: 00912751     EISSN: 10970096     Source Type: Journal    
DOI: 10.1002/jcu.20509     Document Type: Article

References (25)

1. Krampl E, Wertaschnigg D, Husslein P. Down-Syndrom-Screening im ersten Trimenon. Geburtsh Frauenheilk 2002;62:843.
2. Schuchter K, Wald N, Hackshaw AK, et al. The distribution of nuchal translucency at 10-13 weeks of pregnancy. Prenat Diagn 1997;18:281.
3. Wapner R, Thom E, Simpson JL, et al. First-trimester screening for trisomy-21 and 18. N Engl J Med 2003;349:1405.
4. Nicolaides KH, Sebire N, Snijders RJM. Die Ultraschalluntersuchung der 11.-14. Schwangerschaftswoche. Birmingham: Pathenon Publishing; 1999.
5. Biagotti R, Petri E, Cariati E. Humerus and femur length in fetuses with Down syndrome pregnancies. Prenat Diagn 1994;14:429.
6. Bromley B, Doubilet P, Frigoletto FD Jr, et al. Is fetal hyperechoic bowel on second-trimester sonogram an indication for amniocentesis? Obstet Gynecol 1994;83:647.
7. Simpson JM, Cook A, Sharland G. The significance of echogenic foci in the fetal heart: a prospective study of 228 cases. Ultrasound Obstet Gynecol 1996;8:225.
8. Snijders RJM, Shawa L, Nicolaides KH. Fetal choroid plexus cysts and trisomy 18: assessment of risk based on ultrasound findings and maternal age. Prenat Diagn 1994;14:1119.
9. Wickstrom EA, Thangavelu M, Parilla BV, et al. A prospective study of the association between isolated fetal pyelectasis and chromosomal abnormality. Obstet Gynecol 1996;88:379.
10. Cicero S, Curcio P, Papageorghiou A, et al. Absence of nasal bone in fetuses with trisomy 21 at 11-14 weeks of gestation: an observational study. Lancet 2001;358:1665.
11. Snijders RJM, Sundberg K, Holzgreve W, et al. Maternal age and gestation-specific risk for trisomy 21. Ultrasound Obstet Gynecol 1999;14:167.
12. Palomaki GE, Haddow JE. Maternal serum alphafetoprotein, age, and Down syndrome risk. Am J Obstet Gynecol 1987;156:460.
13. Snijders RJM, Hohnson S, Sebire NJ, et al. First trimester ultrasound screening for chromosomal defects. Ultrasound Obstet Gynecol 1996;216.
14. Schmidt P, Scharf A. Advanced firsttrimester screening - a critical review of the fundamental studies and suggestions for improvement [abstract]. Geburtsh Frauenheilk 2006;67:S1.
15. Schmidt P, Rom J, Maul H, et al. Advanced first trimester screening (AFS) - an improved test strategy for the individual risk assessment of fetal aneuploidies and malformations. Arch Gynecol Obstet 2007;276:159.
16. Schmidt P, Staboulidou I, Elsässer M, et al. How imprecise may the measurement of fetal nuchal translucency be without worsening the first-trimester screening? Fetal Diagn Ther (in press).
17. Wald NJ, Hackshaw AK. Combining ultrasound and biochemistry in first-trimester screening for Down's syndrome. Prenat Diagn 1997;17:821.
18. Nicolaides KH, Azar G, Byrne D, et al. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. Br Med J 1992;304:867.
19. Snijders RJM, Noble P, Sebire N, et al. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal translucency thickness at 10-14 weeks of gestation. Lancet 1998;352:343.
20. Schmidt P, Pruggmayer M, Steinborn A, et al. Are nuchal translucency, pregnancy associated plasma protein-A or free-beta-human chorionic gonadotropin depending on maternal age? A multicenter study of 8116 pregnancies. Arch Gynecol Obstet 2007;276:259.
21. Spencer K, Souter V, Tul N, et al. Screening program for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free β-human chorionic gonadotropin an pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 1999;13:231.
22. Scharf A, Schmidt P. Comparison of the risk calculation for trisomy 21 according to Nicolaides with a novel software. Geburtsh Frauenheilk 2002;63:148.
23. Schmidt P, Staboulidou I, Soergel P, et al. Comparison of Nicolaides' risk evaluation for Down's syndrome with a novel software: an analysis of 1,463 cases. Arch Gynecol Obstet 2007;275:469.
24. Hoermansdoerfer C, Schmidt P, Hillemanns P, et al. The prenatal detection of trisomy 13, 18, and 21: comparison of the advanced first trimester screening (AFS) with the first trimester screening according to Nicolaides [in German]. Z Geburtshilfe Neonatol 2007;211:234.
25. Soergel P, Pruggmayer M, Schwerdtfeger R, et al. Screening for trisomy 21 with maternal age, fetal nuchal translucency and maternal serum biochemistry at 11-14 weeks: a regional experience from Germany. Fetal Diagn Ther 2006;21:264.