Advanced first trimester screening (AFS): An improved test strategy for the individual risk assessment of fetal aneuploidies and malformations

Archives of Gynecology and Obstetrics

Volumn 276, Issue 2, 2007, Pages 159-166

  Schmidt, Peter ^a   Rom, Joachim ^b   Maul, Holger ^b   Vaske, Bernhard ^a   Hillemanns, Peter ^a   Scharf, Alexander ^b  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

First trimester; Risk calculation; Screening; Trisomy 21; Ultrasonography

Indexed keywords

CHORIONIC GONADOTROPIN BETA SUBUNIT; PREGNANCY ASSOCIATED PLASMA PROTEIN A;

ADULT; ALGORITHM; ANEUPLOIDY; ARTICLE; CENTRAL NERVOUS SYSTEM MALFORMATION; COHORT ANALYSIS; COMPUTER PROGRAM; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; FALSE POSITIVE RESULT; FEMALE; FETUS; FETUS ECHOGRAPHY; FETUS HYDROPS; FETUS MALFORMATION; FIRST TRIMESTER PREGNANCY; GENETIC ANALYSIS; GENETIC RISK; GENETIC SCREENING; GESTATIONAL AGE; HEAD AND NECK MALFORMATION; HUMAN; KIDNEY MALFORMATION; KLINEFELTER SYNDROME; LIMB MALFORMATION; MAJOR CLINICAL STUDY; MALFORMATION SYNDROME; MATERNAL AGE; PREDICTION; PREGNANCY OUTCOME; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; TRIPLOIDY; TRISOMY 18; TRISOMY 21; TURNER SYNDROME;

ALGORITHMS; ANEUPLOIDY; CHORIONIC GONADOTROPIN, BETA SUBUNIT, HUMAN; COHORT STUDIES; FEMALE; FETAL DISEASES; HUMANS; NUCHAL TRANSLUCENCY MEASUREMENT; PREDICTIVE VALUE OF TESTS; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PREGNANCY-ASSOCIATED PLASMA PROTEIN-A; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY;

EID: 34347388040     PISSN: 09320067     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00404-007-0324-6     Document Type: Article

References (22)

1. Shuttleworth GE (1909) Mongolian imbecility. Br Med J 2:661-665
2. Wald NJ, Kennard A, Hackshaw A, McGuire A (1997) Antenatal screening for Down's syndrome. J Med Screen 4(4):181-246 (Review Erratum in: J Med Screen 1998 5(2):110, J Med Screen 1998 5(3):166)
3. Spencer K, Spencer CE, Power M, Moakes A, Nicolaides KH (2000) One stop clinic for assessment of risk for fetal anomalies: a report of the first year of prospective screening for chromosomal anomalies in the first trimester. BJOG 107(10):1271-1275
4. Pandya PP, Snijders RJM, Johnson SJ, Brizot M, Nicolaides KH (1995) Screening for fetal trisomies by maternal age and fetal nuchal translucency thickness at 10-14 weeks of gestation. Br J Obstet Gynaecol 102:957-962
5. Palomaki GE, Haddow JE (1987) Maternal serum alpha-fetoprotein, age, and Down syndrome risk. Am J Obstet Gynecol 156(2):460-463
6. Nicolaides KH, Sebire N, Snijders RJM (1999) Die Ultraschalluntersuchung der 11.-14. Schwangerschaftswoche. Pathenon, Birmingham
7. Schmidt P (2004) Unterschiedliche Risikoberechnung bei hochaufflliger NT-Messung: Betrachtung der verschiedenen Kalkulationsprogramme. Presentation on the 120th congress of the northern German society of obstetrics and gynecology (Norddeutsche Gesellschaft für Gynäkologie und Geburtshilfe, NGGG), Rostock, Germany
8. 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
9. Snijders RJM, 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 10-14 weeks of gestation. Lancet 351:343-346
10. Nicolaides KH, Azar G, Byrne D, Mansur C, Marks K (1992) Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. Br Med J 304:867-889
11. Wald N, Stone R, Cuckle HS, Grudzinskas JG, Barkai G, Brambati B, Teisner B, Fuhrmann W (1992) First trimester concentrations of pregnancy associated plasma protein A and placental protein 14 in Down's syndrome. Br Med J 305:28
12. Wald NJ, Hackshaw AK (1997) Combining ultrasound and biochemistry in first-trimester screening for Down's syndrome. Prenat Diagn 17(9):821-829
13. Tanner M (2002) The scientific definition of obesity and its dangers. West J Med 176:23-28
14. http://www.fetalmedicine.com/f-books11-14.htm, accessed 13 July 2004
15. Schmidt P, Scharf A (2006) Advanced first trimester screening-a critical review of the fundamental studies and suggestions for improvement. Geburtshilfe Frauenheilkd 67:S1-S183
16. Braithwaite JM, Morris RW, Economides DL (1996) Nuchal translucency measurements: frequency distribution and changes with gestation in a general population. Br J Obstet Gynaecol 103:1201-1204
17. Pandya PP, Kondylios A, Hilbert L, Snijders RJM, Nicolaides KH (1998) Chromosomal defects and outcome in 1,015 fetuses with increased nuchal translucency. Ultrasound Obstet Gynecol 11:391-400
18. Brady AF, Pandya PP, Yuksel B, Greenough A, Patton MA, Nicolaides KH (1998) Outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-14 weeks' gestation. J Med Genet 35:222-224
19. Hyett JA, Perdu M, Sharland GK, Snijders RJM, Nicolaides KH (1999) Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study. Br Med J 318:81-85
20. Sebire NJ, Snijders RJM, Davenport M, Greenough A, Nicolaides KH (1994) First-trimester diagnosis of fetal congenital heart disease by transvaginal ultrasonography. Obstet Gynecol 84:69-72
21. Makrydimas G, Souka A, Skentou H, Lolis D, Nicolaides KH (2001) Osteogenesis imperfecta and other skeletal dysplasias present with increased nuchal translucency in the first trimester: two case-reports and review of the literature. Am J Med Genet 98(2):117-120
22. Frenz JP, Spranger S, Schröder W (2004) Auffällige Nackentransparenz und unauffälliger Karyotyp. Wie viele Feten sind trotzdem erkrankt und um welche Erkrankungen handelt es sich? Congress report from 120th congress of the northern German society of obstetrics and gynecology (Norddeutsche Gesellschaft für Gynäkologie und Geburtshilfe, NGGG), Rostock, Germany, p 109