Screening for adverse pregnancy outcome at early gestational age

Clinica Chimica Acta

Volumn 411, Issue 21-22, 2010, Pages 1547-1552

  Hourrier, Sophie ^a   Salomon, Laurent J ^a   Dreux, Sophie ^b   Muller, Françoise ^b,c  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c University of Paris Ile de France Ouest   (France)

Author keywords

Adverse pregnancy outcome; Down syndrome screening; First trimester; Maternal serum markers; Trisomy 21

Indexed keywords

ADVERSE OUTCOME; ANEUPLOIDY; CHROMOSOME ABERRATION; COST EFFECTIVENESS ANALYSIS; DOWN SYNDROME; FETUS DISEASE; FETUS WASTAGE; FIRST TRIMESTER PREGNANCY; GENETIC DISORDER; GESTATIONAL AGE; HUMAN; INTRAUTERINE GROWTH RETARDATION; MATERNAL SERUM; NUCHAL TRANSLUCENCY MEASUREMENT; PATIENT COUNSELING; PREECLAMPSIA; PREGNANCY COMPLICATION; PREGNANCY OUTCOME; PREMATURE LABOR; PRENATAL SCREENING; PRIORITY JOURNAL; REVIEW; TRISOMY 21;

BIOLOGICAL MARKERS; FEMALE; HUMANS; PREGNANCY; PREGNANCY COMPLICATIONS; PREGNANCY OUTCOME; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS;

EID: 77956460084     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2010.06.024     Document Type: Review

References (89)

1. Cuckle H. Established markers in second trimester maternal serum. Early Hum Dev 1996, 47 Suppl:S27-S29.
2. Muller F., Bussieres L. Maternal serum markers for fetal trisomy 21 screening. Eur J Obstet Gynecol Reprod Biol 1996, 65:3-6.
3. Spencer K., Souter V., Tul N., Snijders R., Nicolaides K. A screening program for trisomy 21 at 10-14weeks using fetal nuchal translucency, maternal serum free β-human chorionic gonadotropin and pregnancy associated plasma protein-A. Ultrasound Obstet Gynecol 1999, 13:231-237.
4. Cuckle H. Biochemical screening for Down syndrome. Eur J Obstet Gynecol Reprod Biol 2000, 92:97-101.
5. Benacerraf B.R., Barss V.A., Laboda L.A. A sonographic sign for the detection in the second trimester of the fetus with Down's syndrome. Am J Obstet Gynecol 1985, 151:1078-1079.
6. Vintzileos A.M., Egan J.F. Adjusting the risk for trisomy 21 on the basis of second-trimester ultrasonography. Am J Obstet Gynecol 1995, 172:837-844.
7. Nyberg D.A., Luthy D.A., Resta R.G., Nyberg B.C., Williams M.A. Age-adjusted ultrasound risk assessment for fetal Down's syndrome during the second trimester: description of the method and analysis of 142 cases. Ultrasound Obstet Gynecol 1998, 12:8-14.
8. Winter T.C., Uhrich S.B., Souter V.L., Nyberg D.A. The "genetic sonogram": comparison of the index scoring system with the age-adjusted US risk assessment. Radiology 2000, 215:775-782.
9. Nyberg D.A., Souter V.L. Sonographic markers of fetal trisomies: second trimester. J Ultrasound Med 2001, 20:655-674.
10. Bromley B., Lieberman E., Shipp T.D., Benacerraf B.R. The genetic sonogram: a method of risk assessment for Down syndrome in the second trimester. J Ultrasound Med 2002, 21:1087-1096.
11. Bahado-Singh R., Shahabi S., Karaca M., Mahoney M.J., Cole L., Oz U.A. The comprehensive midtrimester test: high-sensitivity Down syndrome test. Am J Obstet Gynecol 2002, 186:803-808.
12. Schluter P.J., Pritchard G. Mid trimester sonographic findings for the prediction of Down syndrome in a sonographically screened population. Am J Obstet Gynecol 2005, 192:10-16.
13. Tul N., Spencer K., Noble P., Chan C., Nicolaides K.H. Screening for trisomy 18 by fetal nuchal translucency and maternal serum free β-hCG and pregnancy associated plasma protein-A at 10-14weeks of gestation. Prenat Diagn 1999, 19:1035-1042.
14. Spencer K., Ong C., Skentou H., Liao A.W., Nicolaides K.H. Screening for trisomy 13 by fetal nuchal translucency and maternal serum free beta hCG and pregnancy associated plasma protein A at 10-14weeks of gestation. Prenat Diagn 2000, 20:411-416.
15. Spencer K., Liao A.W., Skentou H., Cicero S., Nicolaides K.H. Screening for triploidy by fetal nuchal translucency and maternal serum freeβ Human chorionic gonadotropin and pregnancy associated plasma protein-A at 10-14 weeks of gestation. Prenat Diagn 2000, 20:495-499.
16. Spencer K., Spencer C.E., Power M., Dawson C., Nicolaides K.H. 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. BJOG 2003, 110:281-286.
17. Avgidou K., Papageorghiou A., Bindra R., Spencer K., Nicolaides K.H. Prospective first-trimester screening for trisomy 21 in 30, 564 pregnancies. Am J Obstet Gynecol 2005, 192:1761-1767.
18. Nicolaides K.H., Spencer K., Avgidou K., Faiola S., Falcon O. Multitcenter 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.
19. Heckerling P.S., Verp M.S., Hadro T.A. Preferences of pregnant women for amniocentesis or chorionic villus sampling for prenatal testing: comparison of patients' choices and those of a decision-analytic model. J Clin Epidemiol 1994, 47:1215-1228.
20. Kandel I., Merrick J. Late termination of pregnancy. Professional dilemmas. Sci World J 2003, 3:903-912.
21. Ville Y. Prima facie. Ultrasound Obstet Gynecol 2010, 35:1-3.
22. Chaoui R., Nicolaides K.H. From nuchal translucency to intracranial translucency: towards the early detection of spina bifida. Ultrasound Obstet Gynecol 2010, 35:133-138.
23. Nicolaides K.H. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol 2004, 191:45-67.
24. Salomon L.J., Bernard M., Amarsy R., Bernard J.P., Ville Y. The impact of crown rump length measurement error on combined Down syndrome screening: a simulation study. Ultrasound Obstet Gynecol 2009, 33:506-511.
25. Snijders R.J.M., 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 10-14weeks of gestation. Lancet 1998, 352:343-346.
26. Souka A.P., von Kaisenberg C.S., Hyett J.A., Sonek J.D., Nicolaides K.H. Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol 2005, 192:1005-1021.
27. Makrydimas G., Sotiriadis A., Ioannidis J.P. Screening performance of first-trimester nuchal translucency for major cardiac defects: a meta-analysis. Am J Obstet Gynecol 2003, 189:1330-1335.
28. Souka A.P., Snidjers R.J.M., Novakov A., Soares W., Nicolaides K.H. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency at 10-14weeks of gestation. Ultrasound Obstet Gynecol 1998, 11:391-400.
29. Souka A.P., Krampl E., Bakalis S., Heath V., Nicolaides K.H. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 2001, 18:9-17.
30. Michailidis G.D., Economides D.L. Nuchal translucency measurement and pregnancy outcome in karyotypically normal fetuses. Ultrasound Obstet Gynecol 2001, 17:102-105.
31. Spencer K. Aneuploidy screening in the first trimester. Am J Med Genet C Semin Med Genet 2007, 145c:18-32.
32. Hook E.B. Prevalence, risks and recurrence. Prenatal diagnosis and screening 1992, 351-392. Churchill Livingstone, Edinburg. D.H.J. Brock, C.H. Rodeck, M.A. Ferguson-Smith (Eds.).
33. Egan J.F., Benn P., Borgida A.F., Rodis J.F., Campbell W.A., Vintzileos A.M. Efficacy of screening for fetal Down syndrome in the United States from 1974 to 1997. Obstet Gynecol 2000, 96:979-985.
34. Snijders R.J.M., Sebire N.J., Nicolaides K.H. Maternal age and gestational age specific risks for chromosomal defects. Fetal Diag Ther 1995, 10:356-357.
35. Aitken D.A., Crossley J.A., Spencer K. Prenatal screening for neural tube defects and aneuploidy. Principles and practice of medical genetics 2002, 763-801. Churchill Livingstone, London. D.L. Rimoin (Ed.).
36. Spencer K., Staboulidou I., De Jesus Cruz J., Karagiannis G., Nicolaides K.H. Maternal serum screening marker levels in women with a previous aneuploidy pregnancy. Prenat Diagn 2009, 29:1242-1243.
37. Muller F., Forestier F., Dingeon B., et al. Second trimester trisomy 21 maternal serum marker screening. Results of a countrywide study of 854, 902 patients. Prenat Diagn 2002, 22:925-929.
38. Bindra R., Heath V., Liao A., Spencer K., Nicolaides K.H. One-stop clinic for assessment of risk for trisomy 21 at 11-14weeks: a prospective study of 15 030 pregnancies. Ultrasound Obstet Gynecol 2002, 20:219-225.
39. Kagan K.O., Wright D., Baker A., Sahota D., Nicolaides K.H. 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.
40. Souka A.P., Pilalis A., Kavalakis Y., Kosmas Y., Antsaklis P., Antsaklis A. Assessment of fetal anatomy at the 11-14-week ultrasound examination. Ultrasound Obstet Gynecol 2004, 24:730-734.
41. Wortelboer E.J., Koster M.P., Stoutenbeek P., et al. First-trimester Down syndrome screening performance in the Dutch population; how to achieve further improvement?. Prenat Diagn 2009, 29:588-592.
42. Wapner R., Thom E., Simpson J.L., et al. First-trimester screening for trisomies 21 and 18. N Engl J Med 2003, 349:1405-1413.
43. Wald N.J., Huttly W.J., Hackshaw A.K. Antenatal screening for Down's syndrome with the quadruple test. Lancet 2003, 361:835-836.
44. Malone F.D., Canick J.A., Ball R.H., et al. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med 2005, 353:2001-2011.
45. 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, 10:56-104.
46. Breathnach F.M., Malone F.D. Screening for aneuploidy in first- and second-trimester: is there an optimal paradigm?. Curr Opin Obstet Gynecol 2007, 19:176-182. (review).
47. 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, 24:762-766.
48. Cuckle H., Benn P., Wright D. Down syndrome screening in the first and/or second trimester: model predicted performance using meta-analysis parameters. Semin Perinatol 2005, 29:252-257.
49. Ball R.H., Caughey A.B., Malone F.D., et al. First- and second-trimester evaluation of risk for Down syndrome. Obstet Gynecol 2007, 110:10-17.
50. Reddy U.M., Wapner R.J. Comparison of first and second trimester aneuploidy risk assessment. Clin Obstet Gynecol 2007, 50:442-453.
51. Wald N.J., Rudnicka A.R., Bestwick J.P. Sequential and contingent prenatal screening for Down syndrome. Prenat Diagn 2006, 26:769-777.
52. Palomaki G.E., Steinort K., Knight G.J., Haddow J.E. Comparing three screening strategies for combining first- and second-trimester Down syndrome markers. Obstet Gynecol 2006, 107:367-375.
53. Maiz N., Valencia C., Kagan F.O., Wright D., Nicolaides K.H. Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13weeks of gestation. Ultrasound Obstet Gynecol 2009, 33:512-517.
54. Kagan K.O., Valencia C., Livanos P., Wright D., Nicolaides K.H. Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11+0 to 13+6weeks of gestation. Ultrasound Obstet Gynecol 2009, 33:18-22.
55. Spencer K., Tul N., Nicolaides K.H. Maternal serum free beta-hCG and PAPP-A in fetal sex chromosome defects in the first trimester. Prenat Diagn 2000, 20:390-394.
56. Urban M., Hartung J. Ultrasonographic and clinical appearance of a 22-week-old fetus with Brachmann-de Lange syndrome. Am J Med Genet 2001, 102:73-75.
57. Huang W.H., Porto M. Abnormal first-trimester fetal nuchal translucency and Cornelia De Lange syndrome. Obstet Gynecol 2002, 99:956-958.
58. Aitken D.A., Ireland M., Berry E., et al. Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies. Prenat Diagn 1999, 19:706-710.
59. Arbuzova S., Nikolenko M., Krantz D., Hallahan T., Macri J. Low first-trimester pregnancy-associated plasma protein-A and Cornelia de Lange syndrome. Prenat Diagn 2003, 23:864.
60. Spencer K., Kagan K.O., Nicolaides K.H. Screening for trisomy 21 in twin pregnancies in the first trimester: an update of the impact of chorionicity on maternal serum markers. Prenat Diagn 2008, 28:49-52.
61. Fisk N.M., Bennett P.R. Prenatal determination of chorionicity and zygosity. Multiple pregnancy 1995, 56-67. (London). R.H. Ward, M. Whittle (Eds.).
62. Spencer K., Staboulidou I., Nicolaides K.H. First trimester aneuploidy screening in the presence of a vanishing twin: implications for maternal serum markers. Prenat Diagn 2010, 30:235-240.
63. Spencer K., Nicolaides K.H. Screening for trisomy 21 in twins using first trimester ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years experience. BJOG 2003, 110:276-280.
64. Gekas J., Gagné G., Bujold E., et al. Comparison of different strategies in prenatal screening for Down's syndrome: cost effectiveness analysis of computer simulation. BMJ 2009, 338:b138.
65. Mulvey S., Zachariah R., McIlwaine K., Wallace E.M. Do women prefer to have screening tests for Down syndrome that have the lowest screen-positive rate or the highest detection rate?. Prenat Diagn 2003, 23:828-832.
66. Spencer K., Aitken D. Factors affecting women's preference for type of prenatal screening test for chromosomal anomalies. Ultrasound Obstet Gynecol 2004, 24.
67. Nicolaides K.H., Chervenak F.A., McCullough L.B., Avgidou K., Papageorghiou A. Evidence-based obstetric ethics and informed decision-making by pregnant women about invasive diagnosis after first-trimester assessment of risk for trisomy 21. Am J Obstet Gynecol 2005, 193:322-326.
68. Sibai B., Dekker G., Kupferminc M. Pre-eclampsia. Lancet 2005, 365:785-799.
69. Ong C.Y.T., Liao A.W., Spencer K., Munim S., Nicolaides K.H. First trimester maternal serum free human chorionic gonadotropin and pregnancy associated plasma protein A as predictors of pregnancy complications. BJOG 2000, 107:1265-1267.
70. Yaron Y., Ochshorn Y., Heifetz S., Lehavi O., Sapir Y., Orr-Urtreger A. First trimester maternal serum free human chorionic gonadotropin as a predictor of adverse pregnancy outcome. Fetal Diagn Ther 2002, 17:352-356.
71. Smith G.C., Shah I., Crossley J.A., et al. Pregnancy-associated plasma protein A and alpha-fetoprotein and prediction of adverse perinatal outcome. Obstet Gynecol 2006, 107:161-166.
72. Dugoff L., Hobbins J.C., Malone F.D., et al. First-trimester maternal serum PAPP-A and free-beta subunit human chorionic gonadotropin concentrations and nuchal translucency are associated with obstetric complications: a population-based screening study (the FASTER Trial). Am J Obstet Gynecol 2004, 191:1446-1451.
73. Spencer C.A., Allen V.M., Flowerdew G., Dooley K., Dodds L. Low levels of maternal serum PAPP-A in early pregnancy and the risk of adverse outcomes. Prenat Diagn 2008, 28:1029-1036.
74. Kang J.H., Farina A., Park J., et al. Down syndrome biochemical markers and screening for pre-eclampsia at first and second trimester: correlation with the week of onset and the severity. Prenat Diagn 2008, 28:704-709.
75. Spencer K., Cowans N., Avigdou K., Molina F., Nicolaides K.H. First-trimester biochemical markers of aneuploidy and the prediction of small-for-gestational age fetuses. Ultrasound Obstet Gynecol 2008, 31:15-19.
76. Goetzl L., Krantz D., Simpson J.L., et al. Pregnancy-associated plasma protein A, free beta-hCG, nuchal translucency, and risk of pregnancy loss. Obstet Gynecol 2004, 104:30-36.
77. Cuckle H.S., Arbuzova S., Spencer K., et al. Frequency and clinical consequences of extremely high maternal serum PAPP-A levels. Prenat Diagn 2003, 23:385-388.
78. Tul N., Pusenjak S., Osredkar J., Spencer K., Novak-Antolic Z. Predicting complications of pregnancy with first-trimester maternal serum free-betahCG, PAPP-A and inhibin-A. Prenat Diagn 2003, 23:990-996.
79. Papageorghiou A.T., Yu C.T., Nicolaides K.H. The role of uterine artery Doppler in predicting adverse pregnancy outcome. Best Pract Res Clin Obstet Gynaecol 2004, 18:383-396.
80. Spencer K., Yu C.K., Cowans N.J., Otigbah C., Nicolaides K.H. Prediction of pregnancy complications by first-trimester maternal serum PAPP-A and free beta-hCG and with second-trimester uterine artery Doppler. Prenat Diagn 2005, 25:949-953.
81. Poon L.C., Stratieva V., Piras S., Piri S., Nicolaides K.H. Hypertensive disorders in pregnancy: combined screening by uterine artery Doppler, blood pressure and serum PAPP-A at 11-13weeks. Prenat Diagn 2010, 30:216-223.
82. Nicolaides K.H., Bindra R., Turan O.M., et al. A novel approach to first-trimester screening for early pre-eclampsia combining serum PP-13 and Doppler ultrasound. Ultrasound Obstet Gynecol 2006, 27:13-17.
83. Krantz D., Goetzl L., Simpson J.L., et al. Association of extreme first-trimester free human chorionic gonadotropin-b, pregnancy-associated plasma protein A, and nuchal translucency with intrauterine growth restriction and other adverse pregnancy outcomes. Am J Obstet Gynecol 2004, 191:1452-1458.
84. Goetzinger K.R., Singla A., Gerkowicz S., Dicke J.M., Gray D.L., Odibo A.O. The efficiency of first-trimester serum analytes and maternal characteristics in predicting fetal growth disorders. Am J Obstet Gynecol 2009, 201:412.e1-6.
85. Spencer K., Cowans N.J., Avigdou K., Nicolaides K. First-trimester ultrasound and biochemical markers of aneuploidy and the prediction of impending fetal death. Ultrasound Obstet Gynecol 2006, 28:637-643.
86. Rissanen A., Niemimaa M., Suonpää M., Ryynänen M., Heinonen S. First trimester Down's syndrome screening shows high detection rate for trisomy 21, but poor performance in structural abnormalities-regional outcome results. Fetal Diagn Ther 2007, 22:45-50.
87. Cuckle H.S., Sehmi I.K., Jones R.G., Mason G. Low maternal serum PAPP-A and fetal viability. Prenat Diagn 1999, 19:788-790.
88. Smith G.C., Crossley J.A., Aitken D.A., et al. First-trimester placentation and the risk of antepartum stillbirth. JAMA 2004, 292:2249-2254.
89. Steer P. The epidemiology of preterm labour. BJOG 2005, 112:1-3.