First-trimester combined ultrasound and biochemical screening for Down syndrome in routine clinical practice

Prenatal Diagnosis

Volumn 24, Issue 10, 2004, Pages 774-780

  Stenhouse, E J ^b   Crossley, J A ^a   Aitken, D A ^a   Brogan, K ^b   Cameron, A D ^b   Connor, J M ^a  

^a Yorkhill Hospitals   (United Kingdom)

^b QUEEN MOTHER S HOSPITAL   (United Kingdom)

Author keywords

Down syndrome; First trimester; Free beta human chorionic gonadotrophin; Nuchal translucency; Pregnancy associated plasma protein A; Prenatal screening

Indexed keywords

CHORIONIC GONADOTROPIN BETA SUBUNIT; PREGNANCY ASSOCIATED PLASMA PROTEIN A;

ADULT; ARTICLE; CHEMICAL ANALYSIS; CHROMOSOME ABERRATION; CLINICAL PRACTICE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; DOWN SYNDROME; FEMALE; FETUS ECHOGRAPHY; FIRST TRIMESTER PREGNANCY; GESTATIONAL AGE; HUMAN; IMMUNOASSAY; MAJOR CLINICAL STUDY; MATERNAL AGE; MATERNAL SERUM; PRENATAL SCREENING; PRIORITY JOURNAL; RISK ASSESSMENT; SECOND TRIMESTER PREGNANCY; SENSITIVITY AND SPECIFICITY; TRISOMY 13; TRISOMY 18;

ADOLESCENT; ADULT; BIOLOGICAL MARKERS; CHORIONIC GONADOTROPIN, BETA SUBUNIT, HUMAN; DOWN SYNDROME; FALSE POSITIVE REACTIONS; FEMALE; GESTATIONAL AGE; HUMANS; MIDDLE AGED; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PREGNANCY-ASSOCIATED PLASMA PROTEIN-A; PRENATAL DIAGNOSIS; RISK ASSESSMENT;

EID: 7944238272     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.980     Document Type: Article

References (33)

1. Aitken DA, Crossley JA, Spencer K. 2002. Prenatal screening for neural tube defects and aneuploidy. In Emery and Rimoin's Principles and Practice of Medical Genetics (4th edn), Rimoin DL, Connor JM, Pyeruitz RE, Korf BR (eds). Churchill Livingstone: London; 763-801.
2. Berry E, Aitken DA, Crossley JA, Macri JN, Connor JM. 1997. Screening for Down's syndrome: changes in marker levels and detection rates between the first and second trimesters. Br J Obstet Gynaecol 104: 811-817.
3. Bindra R, Heath V, Liao A, Spencer K, Nicolaides KH. 2002. One stop clinic for assessment of risk for trisomy 21 at 11-14 weeks: a prospective study of 15030 pregnancies. Ultrasound Obstet Gynaecol 20: 219-225.
4. Brambati B, Lanzani A, Tului L. 1991. Ultrasound and biochemical assessment of first trimester pregnancy. In The Embryo: Normal and Abnormal Development and Growth, Chapman M, Grudzinskas JG, Chard T (eds). Springer-Verlag: New York; 181-194.
5. Crossley JA, Aitken DA, Cameron AD, Connor JM. 2000. Quality assessment of ultrasound nuchal translucency measurements. Eur J Ultrasound 11(Suppl. 1): S19-S20.
6. Crossley JA, Aitken DA, Cameron AD, McBride E, Connor JM. 2002. Combined ultrasound and biochemical screening for Down's syndrome in the first trimester: a Scottish multicentre study. Br J Obstet Gynaecol 109: 667-676.
7. Cuckle H. 2001. Time for a total shift to first trimester screening for Down's syndrome. Lancet 358: 1658-1659.
8. Cuckle H, Aitken D, Goodburn S, Senior B, Spencer K, Standing S. 2004. Age standardisation for monitoring performance in Down's syndrome screening programmes. Prenat Diagn (in press).
9. Cuckle HS, Wald NJ, Thomson SG. 1987. Estimating a woman's risk of having a pregnancy with Down's syndrome using her age and serum alphafetoprotein level. Br J Obstet Gynaecol 94: 1111-1112.
10. De Basio P, Siccardi M, Volpe G, Famularo L, Santi F, Canini S. 1999. First trimester screening for Down syndrome using nuchal translucency measurements with free beta hCG and PAPP-A between 10 and 13 weeks of pregnancy. Prenat Diagn 19: 360-363.
11. De Graaf IM, Pakkrt E, Bilardo CM, Leschot NJ, Cuckle HS, Van Lith JMM. 1999. Early pregnancy screening of fetal aneuploidy with serum markers and nuchal translucency. Prenat Diagn 19: 458-462.
12. Forest JC, Masse J, Moutquin JM. 1997. Screening for Down syndrome during first trimester: a prospective study using free beta human chorionic gonadotrophin and pregnancy associated plasma protein A. Clin Biochem 30: 333-338.
13. Haddow JE, Palomaki GE, Knight GJ, Williams J, Miller WA, Johnson A. 1998. Screening of maternal serum for fetal Down's syndrome in the first trimester. N Engl J Med 338: 955-961.
14. Hook E. 1992. Prevalence, risks and recurrence. In Prenatal Diagnosis and Screening, Brock DJH, Rodeck CH, Ferguson-Smith MA (eds). Churchill Livingstone: Edinburgh; 351-395.
15. Kornman LH, Morssink LP, Beekhuis JR, De Wolf BT, Heringa MP, Mantingh A. 1996. Nuchal translucency cannot be used as a screening test for chromosomal abnormalities in the first trimester of pregnancy in a routine ultrasound practice. Prenat Diagn 16: 797-805.
16. Krantz DA, Hallahan TW, Orlandi F, Buchanan P, Larsen JW, Macri JN. 2000. First trimester Down syndrome screening using dried blood biochemistry and nuchal translucency. Obstet Gynecol 96: 207-213.
17. Krantz DA, Larsen JW, Buchanan PD, Macri JN. 1996. First trimester Down syndrome screening: free beta-human chorionic gonadotropin and pregnancy-associated plasma protein A. Am J Obstet Gynaecol 174: 612-616.
18. Malone FD, D'Alton ME. 2003. First trimester sonographic screening for Down syndrome. Obstet Gynecol 102: 1066-1079.
19. Morris JK, Wald NJ, Watt HC. 1999. Fetal loss in Down syndrome pregnancies. Prenat Diagn 19: 142-145.
20. Muller F, Benattar C, Audibert F, Roussel N, Dreux S, Cuckle H. 2003. First trimester screening for Down syndrome in France combining fetal nuchal translucency measurement and biochemical markers. Prenat Diagn 23: 833-836.
21. Nicolaides KH, Azar G, Byrne D, Mansur C, Marks K. 1992. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. BMJ 304: 867-869.
22. Nicolaides KH, Sebire NJ, Snijders RJM. 1999. Nuchal translucency and chromosomal defects. In The 11-14 Week Scan: The Diagnosis of Fetal Abnormalities, Nicolaides KH (ed.). Parthenon Publishing: Carnforth, UK pp 3-65.
23. Orlandi F, Damiani G, Hallahan TW, Krantz DA, Macri JN. 1997. First trimester screening for fetal aneuploidy: biochemistry and nuchal translucency. Ultrasound Obstet Gynecol 10: 381-386.
24. Schuchter K, Hafner E, Stangl G, Metzenbauer M, Hofinger D, Philipp K. 2002. The first trimester "combined test" for the detection of Down syndrome pregnancies in 4939 unselected pregnancies. Prenat Diagn 22: 211-215.
25. Snijders RJM, Holzgrieve W, Cuckle H, Nicolaides KH. 1994. Maternal age-specific risks for trisomies at 9-14 weeks gestation. Prenat Diagn 14: 543-552.
26. Spencer K, Macri JN, Aitken DA, Connor JM. 1992. Free beta hCG as a first trimester marker of fetal trisomy. Lancet 339: 1480.
27. Spencer K, Ong C, Skentou H, Liao AW, Nicolaides K. 2000. Screening for trisomy 13 by fetal nuchal translucency and maternal serum free beta-hCG and PAPP-A at 10-14 weeks of gestation. Prenat Diagn 20: 411-416.
28. Spencer K, Soutar V, Tul N, Snijders R, Nicolaides KH. 1999. A screening program for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free beta human chorionic gonadotrophin and pregnancy associated plasma protein A. Ultrasound Obstet Gynecol 13: 231-237.
29. Spencer K, Spencer CE, Power M, Dawson C, Nicolaides KH. 2003. 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 110: 281-286.
30. Stenhouse EJ, Crossley JA, Eddowes H, Aitken DA, Cameron AD. 2002. The quality control of nuchal translucency measurement during routine first trimester screening for Down's syndrome. J Obstet Gynaecol 22(Suppl. 1): S39.
31. Tul N, Spencer K, Noble P, Chan C, Nicolaides K. 1999. Screening for trisomy 18 by fetal nuchal translucency and maternal serum free beta-hCG and PAPP-A at 10-14 weeks of gestation. Prenat Diagn 19: 1035-1042.
32. Wald NJ, George L, Smith D, Densem JW, Petterson K. 1996. Serum screening for Down's syndrome between 8 and 14 weeks of pregnancy. International Prenatal Screening Research Group. Br J Obstet Gynaecol 103: 407-412.
33. Wapner R, Thom E, Simpson JL, et al. 2003. First-trimester screening for trisomies 21 and 18. N Engl J Med 349: 1405-1413.