A new approach to calculating the risk of chromosomal abnormalities with first-trimester screening data

Ultraschall in der Medizin

Volumn 29, Issue 6, 2008, Pages 639-645

  Merz, E ^a,b,d   Thode, C ^b   Alkier, A ^b   Elben, B ^b   Hackeloer B J ^b   Hansmann, M ^b   Huesgen, G ^b   Kozlowski, P ^b   Pruggmaler, M ^b   Wellek, S ^c  

^a Nordwest Hospital   (Germany)

^b FMF Germany   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d KRANKENHAUS NORDWEST   (Germany)

Author keywords

First trimester; Free HCG; Nuchal translucency; PAPP A; Screening

Indexed keywords

CHORIONIC GONADOTROPIN; PREGNANCY ASSOCIATED PLASMA PROTEIN A;

ALGORITHM; ARTICLE; CHROMOSOME ABERRATION; CROWN RUMP LENGTH; FETUS; FIRST TRIMESTER PREGNANCY; GENETIC RISK; GENETIC SCREENING; GERMANY; HUMAN; MAJOR CLINICAL STUDY; MATERNAL AGE; NUCHAL TRANSLUCENCY MEASUREMENT; PRENATAL DIAGNOSIS; RISK ASSESSMENT; TRISOMY 21;

CHROMOSOME ABERRATIONS; CROWN-RUMP LENGTH; FEMALE; FETAL DEVELOPMENT; GERMANY; GESTATIONAL AGE; HUMANS; MATERNAL AGE; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS; REFERENCE VALUES; RISK ASSESSMENT; RISK FACTORS; SAMPLE SIZE; ULTRASONOGRAPHY, PRENATAL;

EID: 58449123919     PISSN: 01724614     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1027958     Document Type: Article

References (36)

1. 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: 867-889
2. Snijders RJM, Noble P, Souka A 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; 351: 343-346
3. Snijders RJ, Sebire NJ, Nayar R et al. Increased nuchal translucency in trisomy 13 fetuses at 10-14 weeks of gestation. Am J Med Genet 1999; 86: 205-207
4. Spencer K, Heath V, Flack N et al. First trimester maternal serum AFP and total hCG in aneuploidies other than trisomy 21. Prenat Diagn 2000; 20: 635-639
5. Gasiorek-Wiens A, Tercanli S, Kozlowski P et al. Screening for trisomy 21 by fetal nuchal translucency and maternal age: a multicenter project in Germany, Austria and Switzerland. Ultrasound Obstet Gynecol 2001; 18: 645-648
6. Eiben B, Alkier R, Denk R et al. On the perinatal risk precision in the first trimester of pregnancy in relation to nuchal translucency and biochemical analysis of maternal serum. Clin Lab 2002; 48: 421-423
7. Nicolaides KH. Nuchal translucency and other first-trimester sonographic markers of chromosomal anomalies. Am J Obstet Gynecol 2004; 191: 45-67
8. Nicolaides KH, Spencer K, Avgidou K et al. Multicenter study of first-trimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening. Ultrasound Obstet Gynecol 2005; 25: 221-226
9. Spencer K, Heath V, El-Sheikhah A et al. Ethnicity and the need for correction of biochemical and ultrasound markers of chromosomal anomalies in the first trimester: a study of Oriental, Asian and Afro-Caribbean populations. Prenatal Diagnosis 2005; 25: 365-369
10. Malone FD, Canick JA, Ball RH et al. First- and Second-Trimester Evaluation of Risk (FASTER) Research Consortium. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med 2005; 353: 2001-2011
11. Wald NJ, Rodeck C, Hackshaw AK et al. First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). J Med Screen 2003; 10: 56-104. Erratum in: J Med Screen 2006; 13: 51-52
12. Witters I, Fryns JR. Fetal nuchal translucency thickness. Genet Couns 2007; 18: 1-7
13. Kagan KO, Wright D, Maiz N et al. Screening for trisomy 18 by maternal age, fetal nuchal translucency, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 2008; 32: 488-492
14. Kagan KO, Wright D, Baker A et al. 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: 618-624
15. Hyett JA, Perdu M, Sharland GK et al. Using fetal nuchal translucency to screen for congenital cardial defects at 10-14 weeks of gestation: population based cohort study. Br Med J 1999; 318: 81-85
16. Galindo A, Comas C, Martínez JM et al. Cardiac defects in chromosomally normal fetuses with increased nuchal translucency at 10-14 weeks of gestation. J Matern Fetal Neonatal Med 2003; 13: 163-170
17. Souka AP, Snijders RJ, Novakov A et al. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 1998; 11: 391-400
18. Souka AP, Krampl E, Bakalis S et al. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 2001; 18: 9-17
19. Souka AP, von Kaisenberg CS, Hyett JA et al. Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol 2005; 192: 1005-1021. Review. Erratum in: Am J Obstet Gynecol 2005; 192: 2096
20. Merz E. First trimester screening - a new algorithm for risk calculation of chromosomal anomalies developed by FMF Germany. Ultraschall in Med 2007; 28: 270-272
21. Merz E, Thode C, Wellek S et al. Fetal Medicine Foundation Germany (FMF-D): a new approach to calculating the risk of chromosomal abnormalities with first-trimester screening data (11 + 1 to 14 + 0 weeks). Ultrasound Obstet Gynecol 2007; 30: 542-543
22. Wellek S, Merz E. Age-related reference ranges for growth parameters. Meth Inform Med 1995; 34: 523-528
23. Snijders RJ, Sundberg K, Holzgreve W et al. Maternal age- and gestation-specific risk for trisomy 21. Ultrasound Obstet Gynecol 1999; 13: 167-170
24. Snijders RJM, Sebire NJ, Cuckle H et al. Maternal age and gestational age-specific risks for chromosomal defects. Fetal Diagn Ther 1995; 10: 356-367
25. Merz E, Thode Ch, Wellek S et al. First Trimester Screening in Europe: Comparison of the Algorithm of Fetal Medicine Foundation Germany (FMF-D) with the Algorithm of Fetal Medicine Foundation England (FMF-UK). Ultrasound Obstet Gynecol 2008; 32: 264
26. Statistical Yearbook 2007. Wiesbaden, Germany: Federal Statistical Office
27. Wright D, Kagan KO, Molina FS et al. A mixture model of nuchal translucency thickness in screening for chromosomal defects. Ultrasound Obstet Gynecol 2008; 31: 376-383
28. Sonek JD, Nicolaides KH. Prenatal ultrasonographic diagnosis of nasal bone abnormalities in three fetuses with Down syndrome. Am J Obstet Gynecol 2002; 186: 139-141
29. Cicero S, Avgidou K, Rembouskos G et al. Nasal bone in first-trimester screening for trisomy 21. Am J Obstet Gynecol 2006; 195: 109-114
30. Borrell A, Gonce A, Martinez JM et al. Firsttrimester screening for Down syndrome with ductus venosus Doppler studies in addition to nuchal translucency and serum markers. Prenat Diagn 2005; 25: 901-905
31. Maiz N, Plasencia W, Dagklis T et al. Ductus venosus Doppler in fetuses with cardiac defects and increased nuchal translucency thickness. Ultrasound Obstet Gynecol 2008; 31: 256-260
32. Faiola S, Tsoi E, Huggon IC et al. Likelihood ratio for trisomy 21 in fetuses with tricuspid regurgitation at the 11 to 13 + 6-week scan. Ultrasound Obstet Gynecol 2005; 26: 22-27
33. Falcon O, Auer M, Gerovassili A et al. Screening for trisomy 21 by fetal tricuspid regurgitation, nuchal translucency and maternal serum free beta-hCG and PAPP-A at 11 + 0 to 13 + 6 weeks. Ultrasound Obstet Gynecol 2006; 27: 151-155
34. Sonek J, Borenstein M, Downing C et al. Frontomaxillary facial angles in screening for trisomy 21 at 14-23 weeks' gestation. Am J Obstet Gynecol 2007; 197: 160.e1-160.5
35. Borenstein M, Persico N, Kagan KO et al. Frontomaxillary facial angle in screening for trisomy 21 at 11 + 0 to 13 + 6 weeks. Ultrasound Obstet Gynecol 2008; 32: 5-11
36. Nicolaides KH. First-trimester screening for chromosomal abnormalities. Semin Perinatol 2005; 29: 190-194