Nuchal Translucency Thresholds in Prenatal Screening for Down Syndrome and Trisomy 18

Journal of Obstetrics and Gynaecology Canada

Volumn 31, Issue 3, 2009, Pages 227-235

  Miron, Pierre ^a,b   Côté, Yvan P ^c   Lambert, Jean ^d  

^a MAISONNEUVE ROSEMONT HOSPITAL   (Canada)

^b Prenagen Inc   (Canada)

^c Warnex Medical Laboratories   (Canada)

^d UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

Beta subunit; Chorionic gonadotropin; Down syndrome; Human; Nuchal translucency measurement; Pregnancy associated plasma protein A; Trisomy

Indexed keywords

CHORIONIC GONADOTROPIN BETA SUBUNIT; PREGNANCY ASSOCIATED PLASMA PROTEIN A;

ADULT; ARTICLE; DISEASE MARKER; DOWN SYNDROME; FEMALE; FIRST TRIMESTER PREGNANCY; GESTATION PERIOD; GESTATIONAL AGE; HIGH RISK PREGNANCY; HUMAN; MAJOR CLINICAL STUDY; MATERNAL AGE; NUCHAL TRANSLUCENCY THRESHOLD; PARAMETERS CONCERNING THE FETUS, NEWBORN AND PREGNANCY; PRENATAL SCREENING; PROTEIN DETERMINATION; TRISOMY 18; YOUNG ADULT; CHROMOSOME 18; FETUS ECHOGRAPHY; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; TRISOMY;

ADULT; CHROMOSOMES, HUMAN, PAIR 18; DOWN SYNDROME; FEMALE; HUMANS; MATERNAL AGE; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PREGNANCY TRIMESTER, FIRST; TRISOMY; ULTRASONOGRAPHY, PRENATAL;

EID: 67449096381     PISSN: 17012163     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1701-2163(16)34121-4     Document Type: Article

References (42)

1. Nicolaides K.H., Azar G., Byrne D., Mansur C., Marks K. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. BMJ 1992 Apr 4, 304(6831):867-869.
2. Summers A.M., Langlois S., Wyatt P., Wilson R.D. Prenatal screening for fetal aneuploidy. SOGC Clinical Practice Guideline No. 187, February 2007. J Obstet Gynaecol Can 2007, 29(2):146-179.
3. Viossat P., Cans C., Marchal-Andre D., Althuser M., Tomasella T., Pons J.C., et al. Role of "subtle" ultrasonographic signs during antenatal screening for trisomy 21 during the second trimester of pregnancy: meta-analysis and CPDPN protocol of the Grenoble University Hospital [articled in French]. J Gynecol Obstet Biol Reprod (Paris) 2005 May, 34(3 Pt 1):215-231.
4. Comstock C.H., Malone F.D., Ball R.H., Nyberg D.A., Saade G.R., Berkowitz R.L., et al. Is there a nuchal translucency millimeter measurement above which there is no added benefit from first trimester serum screening?. Am J Obstet Gynecol 2006, 195(3):843-847.
5. Brambati B., Tului L., Bonacchi I., Shrimanker K., Suzuki Y., Grudzinskas J.G. Serum PAPP-A and free beta-hCG are first-trimester screening markers for Down syndrome. Prenat Diagn 1994, 14(11):1043-1047.
6. Zimmermann R., Hucha A., Savoldelli G., Binkert F., Achermann J., Grudzinskas J.G. Serum parameters and nuchal translucency in first trimester screening for fetal chromosomal abnormalities. Br J Obstet Gynaecol 1996 Oct, 103(10):1009-1014.
7. Spencer K., Macri J.N., Aitken D.A., Connor J.M. Free beta-hCG as first-trimester marker for fetal trisomy. Lancet 1992 Jun 13, 339(8807):1480.
8. Spencer K. Aneuploidy screening in the first trimester. Am J Med Genet 2007 Feb 15, 145C(1):18-32.
9. Snijders R.J., Noble P., Sebire N., Souka A., Nicolaides K.H. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet 1998 Aug 1, 352(9125):343-346.
10. Krantz D.A., Hallahan T.W., Macri V.J., Macri J.N. Maternal weight and ethnic adjustment within a first-trimester Down syndrome and trisomy 18 screening program. Prenat Diagn 2005 Aug, 25(8):635-640.
11. Krantz D.A., Hallahan T.W., Orlandi F., Buchanan P., Larsen J.W., Macri J.N. First-trimester Down syndrome screening using dried blood biochemistry and nuchal translucency. Obstet Gynecol 2000 Aug, 96(2):207-213.
12. ISQ La situation démographique au Québec. Bilan 2006. Bibliothèque et archives nationales du Québec 2006, 72-73.
13. Spencer K. Aneuploidy screening in the first trimester. Am J Med Genet 2007 Feb 15, 145(1):18-32.
14. Mennuti M.T., Driscoll D.A. Screening for Down's syndrome-too many choices?. N Engl J Med 2003 Oct 9, 349(15):1471-1473.
15. Wald N.J., Watt H.C., Hackshaw A.K. Integrated screening for Down's syndrome on the basis of tests performed during the first and second trimesters. N Engl J Med 1999 Aug 12, 341(7):461-467.
16. Platt L.D., Greene N., Johnson A., Zachary J., Thom E., Krantz D., et al. Sequential pathways of testing after first-trimester screening for trisomy 21. Obstet Gynecol 2004 Oct, 104(4):661-666.
17. Wright D., Bradbury I., Benn P., Cuckle H., Ritchie K. Contingent screening for Down syndrome is an efficient alternative to non-disclosure sequential screening. Prenat Diagn 2004 Oct, 24(10):762-766.
18. de Graaf I.M., Tijmstra T., Bleker O.P., van Lith J.M. Women's preference in Down syndrome screening. Prenat Diagn 2002 Jul, 22(7):624-629.
19. Sharma G., Gold H.T., Chervenak F.A., McCullough L., Alt A.K., Chasen S.T. Patient preference regarding first-trimester aneuploidy risk assessment. Am J Obstet Gynecol 2005 Oct, 193(4):1429-1436.
20. Sharma G., McCullough L.B., Chervenak F.A. Ethical considerations of early (first vs. second trimester) risk assessment disclosure for trisomy 21 and patient choice in screening versus diagnostic testing. Am J Med Genet 2007 Feb 15, 145(1):99-104.
21. Reddy U.M., Mennuti M.T. Incorporating first-trimester Down syndrome studies into prenatal screening: executive summary of the National Institute of Child Health and Human Development workshop. Obstet Gynecol 2006 Jan, 107(1):167-173.
22. Wald N.J., Rodeck C., Hackshaw A.K., Walters J., Chitty L., Mackinson A.M. 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(2):56-104.
23. Wapner R., Thom E., Simpson J.L., Pergament E., Silver R., Filkins K., et al. First-trimester screening for trisomies 21 and 18. N Engl J Med 2003 Oct 9, 349(15):1405-1413.
24. Malone F.D., Canick J.A., Ball R.H., Nyberg D.A., Comstock C.H., Bukowski R., et al. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med 2005 Nov 10, 353(19):2001-2011.
25. Nicolaides K.H. The 11-13+6 weeks scan. London: Fetal Medicine Foundation 2004, 90.
26. Cicero S., Curcio P., Papageorghiou A., Sonek J., Nicolaides K. Absence of nasal bone in fetuses with trisomy 21 at 11-14 weeks of gestation: an observational study. Lancet 2001 Nov 17, 358(9294):1665-1667.
27. Dagklis T., Plasencia W., Maiz N., Duarte L., Nicolaides K.H. Choroid plexus cyst, intracardiac echogenic focus, hyperechogenic bowel and hydronephrosis in screening for trisomy 21 at 11+0 to 13+6 weeks. Ultrasound Obstet Gynecol 2008 Feb, 31(2):132-135.
28. Sonek J., Borenstein M., Dagklis T., Persico N., Nicolaides K.H. Frontomaxillary facial angle in fetuses with trisomy 21 at 11-13(6) weeks. Am J Obstet Gynecol 2007 Mar, 196(3):271e1-271e4.
29. Jauniaux E., Brown R., Rodeck C., Nicolaides K.H. Prenatal diagnosis of triploidy during the second trimester of pregnancy. Obstet Gynecol 1996 Dec, 88(6):983-989.
30. Jambon A.C., Tillouche N., Valat A.S., Guionnet B., Puech F. Triploidies [article in French]. J Gynecol Obstet Biol Reprod (Paris) 1998 Jan, 27(1):35-43.
31. Iliopoulos D., Vassiliou G., Sekerli E., Sidiropoulou V., Tsiga A., Dimopoulou D., et al. Long survival in a 69, XXX triploid infant in Greece. Genet Mol Res 2005, 4(4):755-759.
32. Spencer K., Aitken D. Factors affecting women's preference for type of prenatal screening test for chromosomal anomalies. Ultrasound Obstet Gynecol 2004 Dec, 24(7):735-739.
33. Spencer K., Spencer C.E., Power M., Moakes A., Nicolaides K.H. 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 2000 Oct, 107(10):1271-1275.
34. Laigaard J., Spencer K., Christiansen M., Cowans N.J., Larsen S.O., Pedersen B.N., et al. ADAM 12 as a first-trimester maternal serum marker in screening for Down syndrome. Prenat Diagn 2006 Oct, 26(10):973-979.
35. Farrell S., Roye C., Crane J., Davis D., Heywood M., Lalonde A., et al. Statement on wait times in obstetrics and gynaecology. SOGC Policy Statement No. 204, March 2008. J Obstet Gynaecol Can 2008 Mar, 30(3):248-270.
36. Dommergues M., Audibert F., Benattar C., Champagne C., Gomel V., Frydman R. Is routine amniocentesis for advanced maternal age still indicated?. Fetal Diagn Ther 2001 Nov-Dec, 16(6):372-377.
37. ACOG Practice Bulletin. Clinical Management Guidelines for Obstetrician-Gynecologists. Prenatal diagnosis of fetal chromosomal abnormalities. Obstet Gynecol 2001 May;97(5 Pt 1):suppl 1-12.
38. Eddleman KA, Malone FD, Sullivan L, Dukes K, Berkowitz RL, Kharbutli Y, et al. Pregnancy loss rates after midtrimester amniocentesis. Obstet Gynecol 2006 Nov;108(5):1067-72.
39. Wilson RD, Langlois S, Johnson JA; SOGC Genetics Committee, CCMG Prenatal Diagnosis Committee. Mid-trimester amniocentesis fetal loss rate. SOGC Committee Opinion No. 194, July 2007. J Obstet Gynaecol Can 2007;29(7):586-95.
40. Wachtel SS, Shulman LP, Sammons D. Fetal cells in maternal blood. Clin Genet 2001 Feb;59(2):74-9.
41. Dennis Lo YM, Chiu RW. Prenatal diagnosis: progress through plasma nucleic acids. Nat Rev Genet 2007 Jan;8(1):71-7.
42. Purwosunu Y, Sekizawa A, Koide K, Okazaki S, Farina A, Okai T. Clinical potential for noninvasive prenatal diagnosis through detection of fetal cells in maternal blood. Taiwan J Obstet Gynecol 2006 Mar;45(1):10-20.