First trimester screening for Down syndrome using nuchal translucency, maternal serum pregnancy-associated plasma protein A, free-β human chorionic gonadotrophin, placental growth factor, and α-fetoprotein

Prenatal Diagnosis

Volumn 35, Issue 7, 2015, Pages 709-716

  Huang, Tianhua ^a   Dennis, Alan ^a   Meschino, Wendy S ^a,b   Rashid, Shamim ^a   Mak Tam, Ellen ^a   Cuckle, Howard ^c  

^a NORTH YORK GENERAL HOSPITAL   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c NewYork Presbyterian Hospital   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN; CHORIONIC GONADOTROPIN; FREE BETA CHORIONIC GONADOTROPIN; PLACENTAL GROWTH FACTOR; PREGNANCY ASSOCIATED PLASMA PROTEIN A; UNCLASSIFIED DRUG; BIOLOGICAL MARKER; CHORIONIC GONADOTROPIN BETA SUBUNIT; PLACENTA PROTEIN;

ADULT; ARTICLE; CASE CONTROL STUDY; COMPARATIVE STUDY; CONTROLLED STUDY; DOWN SYNDROME; ETHNICITY; FEMALE; FERTILIZATION IN VITRO; FIRST TRIMESTER PREGNANCY; FIRST TRIMESTER PREGNANCY COMBINED SCREENING; GESTATIONAL AGE; HUMAN; KERNEL METHOD; MAJOR CLINICAL STUDY; MATERNAL AGE; MATERNAL SERUM SCREENING TEST; NUCHAL TRANSLUCENCY MEASUREMENT; PRENATAL SCREENING; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SMOKING; BLOOD; EVALUATION STUDY; LABORATORY DIAGNOSIS; METABOLISM; MULTIVARIATE ANALYSIS; NORMAL DISTRIBUTION; PREGNANCY; STATISTICAL MODEL;

ADULT; ALPHA-FETOPROTEINS; BIOMARKERS; CASE-CONTROL STUDIES; CHORIONIC GONADOTROPIN, BETA SUBUNIT, HUMAN; DOWN SYNDROME; FALSE POSITIVE REACTIONS; FEMALE; HUMANS; MATERNAL SERUM SCREENING TESTS; MODELS, STATISTICAL; MULTIVARIATE ANALYSIS; NORMAL DISTRIBUTION; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PREGNANCY PROTEINS; PREGNANCY TRIMESTER, FIRST; PREGNANCY-ASSOCIATED PLASMA PROTEIN-A; RETROSPECTIVE STUDIES;

EID: 84933678894     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4597     Document Type: Article

References (49)

1. Okun N, Summers AM, Hoffman B, et al. Prospective experience with integrated prenatal screening and first trimester combined screening for trisomy 21 in a large Canadian urban center. Prenat Diagn 2008;28:987-92.
2. Wright D, Syngelaki A, Bradbury I, et al. First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing. Fetal Diagn Ther 2014;35:118-26.
3. Cuckle HS, Malone FD, Wright D, et al. Contingent screening for Down syndrome--results from the FaSTER trial. Prenat Diagn 2008;28:89-94.
4. 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.
5. Poon LC, Syngelaki A, Akolekar R, et al. Combined screening for preeclampsia and small for gestational age at 11-13 weeks. Fetal Diagn Ther 2013;33:16-27.
6. Cuckle HS. Screening for pre-eclampsia--lessons from aneuploidy screening. Placenta 2011;32(Suppl):S42-8.
7. Baer RJ, Norton ME, Shaw GM, et al. Risk of selected structural abnormalities in infants after increased nuchal translucency measurement. Am J Obstet Gynecol 2014;211:675.e1-19.
8. Agarwal A, Sayres LC, Cho MK, et al. Commercial landscape of noninvasive prenatal testing in the United States. Prenat Diagn 2013;33:521-31.
9. Walsh JM, Goldberg JD. Fetal aneuploidy detection by maternal plasma DNA sequencing: a technology assessment. Prenat Diagn 2013;33:514-20.
10. Langlois S, Brock JA, Genetics Committee. Current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma. J Obstet Gynaecol Can 2013;35:177-81.
11. Bromley B, Shipp TD, Lyons J, et al. Detection of fetal structural anomalies in a basic first-trimester screening program for aneuploidy. J Ultrasound Med 2014;33:1737-45.
12. Cuckle H, Benn P, Pergament E. Maternal cfDNA screening for Down syndrome-a cost sensitivity analysis. Prenat Diagn 2013;33:636-42.
13. Okun N, Teitelbaum M, Huang T, et al. The price of performance: a cost and performance analysis of the implementation of cell-free fetal DNA testing for Down syndrome in Ontario, Canada. Prenat Diagn 2014;34:350-6.
14. Nicolaides KH, Syngelaki A, Poon LC, et al. First-trimester contingent screening for trisomies 21, 18 and 13 by biomarkers and maternal blood cell-free DNA testing. Fetal Diagn Ther 2014;35:185-92.
15. Davis C, Cuckle H, Yaron Y. Screening for Down syndrome - incidental diagnosis of other aneuploidies. Prenat Diagn 2014;34:1044-8.
16. Malone FD, Canick JA, Ball RH, et al. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med 2005;353:2001-11.
17. Bredaki FE, Wright D, Matos P, et al. First-trimester screening for trisomy 21 using alpha-fetoprotein. Fetal Diagn Ther 2011;30:215-8.
18. Wald NJ, Bestwick JP, George LM, et al. Antenatal screening for Down syndrome using serum placental growth factor with the combined, quadruple, serum integrated and integrated tests. PLoS One 2012;7:e46955.
19. Donalson K, Turner S, Morrison L, et al. Maternal serum placental growth factor and α-fetoprotein testing in first trimester screening for Down syndrome. Prenat Diagn 2013;33:457-61.
20. Kagan KO, Hoopmann M, Abele H, et al. First-trimester combined screening for trisomy 21 with different combinations of placental growth factor, free β-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 2012;40:530-5.
21. Cowans NJ, Stamatopoulou A, Spencer K. First trimester maternal serum placental growth factor in trisomy 21 pregnancies. Prenat Diagn 2010;30:449-53.
22. Koster MP, Wortelboer EJ, Stoutenbeek P, et al. Modeling Down syndrome screening performance using first-trimester serum markers. Ultrasound Obstet Gynecol 2011;38:134-9.
23. Pandya P, Wright D, Syngelaki A, et al. Maternal serum placental growth factor in prospective screening for aneuploidies at 8-13 weeks' gestation. Fetal Diagn Ther 2012;31:87-93.
24. Johnson J, Pastuck M, Metcalfe A, et al. First-trimester Down syndrome screening using additional serum markers with and without nuchal translucency and cell-free DNA. Prenat Diagn 2013;33:1044-9.
25. Springer D, Zima T, Arnostová L. Stability of free beta-hCG in the routine screening of Down syndrome in the first trimester of pregnancy. Prague Med Rep 2008;109:134-41.
26. Cowans NJ, Stamatopoulou A, Hellström J, et al. PAPP-A and free β-hCG stability in first trimester serum using PerkinElmer AutoDELFIA and DELFIA Xpress systems. Prenat Diagn 2010;30:127-32.
27. Muller F, Doche C, Ngo S, et al. Stability of free beta-subunit in routine practice for trisomy 21 maternal serum screening. Prenat Diagn 1999;19:85-6.
28. Cowans NJ, Alfthan H, Stenman UH, et al. Stability of first trimester placental growth factor in serum and whole blood. Prenat Diagn 2011;31:1193-7.
29. Royston P, Thompson SG. Model-based screening by risk with application to Down's syndrome. Stat Med 1992;11:257-68.
30. Cuckle H, Aitken D, Goodburn S, et al. UK National Down's Syndrome Screening Programme, Laboratory Advisory Group. Age-standardisation when target setting and auditing performance of Down syndrome screening programmes. Prenat Diagn 2004;24:851-6.
31. Cuckle HS, Wald NJ, Thompson SG. Estimating a woman's risk of having a pregnancy associated with Down's syndrome using her age and serum alpha-fetoprotein level. Br J Obstet Gynaecol 1987;94:387-402.
32. Cuckle H. Down syndrome fetal loss rate in early pregnancy. Prenat Diagn 1999;19:1177-9.
33. Zaragoza E, Akolekar R, Poon LC, et al. Maternal serum placental growth factor at 11-13 weeks in chromosomally abnormal pregnancies. Ultrasound Obstet Gynecol 2009;33:382-6.
34. Nicolaides KH, Wright D, Poon LC, et al. First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol 2013;42:41-50.
35. Wald NJ, Kennard A, Hackshaw AK. First trimester serum screening for Down's syndrome. Prenat Diagn 1995;15:1227-40.
36. Spencer K, Crossley JA, Aitken DA, et al. Temporal changes in maternal serum biochemical markers of trisomy 21 across the first and second trimester of pregnancy. Ann Clin Biochem 2002;39(Pt 6):567-76.
37. Spencer K, Crossley JA, Aitken DA, et al. The effect of temporal variation in biochemical markers of trisomy 21 across the first and second trimesters of pregnancy on the estimation of individual patient-specific risks and detection rates for Down's syndrome. Ann Clin Biochem 2003;40(Pt 3):219-31.
38. Cuckle HS, Benn PA. Multianalyte. Maternal serum screening for chromosomal defects. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Milunsky A, Milunsky JM (eds), 6th ed. Wiley-Blackwell: Chichester; 2010. p 771-818.
39. Akolekar R, Beta J, Picciarelli G, et al. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2014. DOI:10.1002/uog.14636.
40. Enzensberger C, Pulvermacher C, Degenhardt J, et al. Fetal loss rate and associated risk factors after amniocentesis, chorionic villus sampling and fetal blood sampling. Ultraschall Med 2012;33:E75-9.
41. Gil MM, Akolekar R, Quezada MS, et al. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis. Fetal Diagn Ther 2014;35:156-73.
42. Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol 2013;42:15-33.
43. Beulen L, Grutters JP, Faas BH, et al. The consequences of implementing non-invasive prenatal testing in Dutch national health care: a cost-effectiveness analysis. Eur J Obstet Gynecol Reprod Biol 2014;182C:53-61.
44. Cuckle H, Benn P, Pergament E. Maternal cfDNA screening for Down syndrome-a cost sensitivity analysis. Prenat Diagn 2013;33:636-42.
45. Morris S, Karlsen S, Chung N, et al. Model-based analysis of costs and outcomes of non-invasive prenatal testing for Down's syndrome using cell free fetal DNA in the UK National Health Service. PLoS One 2014;9(4):e93559. DOI:10.1371/journal.pone.0093559.
46. Nicolaides KH. A model for a new pyramid of prenatal care based on the 11 to 13weeks' assessment. Prenat Diagn 2011;31:3-6.
47. Bujold E, Roberge S, Nicolaides KH. Low-dose aspirin for prevention of adverse outcomes related to abnormal placentation. Prenat Diagn 2014;34:642-8.
48. Roberge S, Nicolaides KH, Demers S, et al. Prevention of perinatal death and adverse perinatal outcome using low-dose aspirin: a meta-analysis. Ultrasound Obstet Gynecol 2013;41:491-9.
49. Sonek JD, Cuckle HS. What will be the role of first trimester-ultrasound if cell-free DNA screening for aneuploidy becomes routine? Ultrasound Obstet Gynecol 2014;44:621-30.