Screening of chromosome anomalies during the first trimester;Screening auf chromosomenanomalien im ersten trimenon

Gynakologisch-geburtshilfliche Rundschau

Volumn 45, Issue 2, 2005, Pages 86-92

  Krampl, Elisabeth ^a  

^a UNIV KLIN FÜR FRAUENHEILKUNDE   (Austria)

Author keywords

Chromosome anomalies, ultrasound screening; Down syndrome; Trisomy 21

Indexed keywords

CHORIONIC GONADOTROPIN; PREGNANCY ASSOCIATED PLASMA PROTEIN A;

BLOOD FLOW; CHROMOSOME ABERRATION; CYSTITIS; DOWN SYNDROME; DUCTUS VENOSUS; FACIAL BONE; FETUS ECHOGRAPHY; FIRST TRIMESTER PREGNANCY; HOLOPROSENCEPHALY; HUMAN; MATERNAL SERUM; MAXILLA; MOTHER; NOSE MALFORMATION; OMPHALOCELE; POLYDACTYLY; PRACTICE GUIDELINE; QUALITY CONTROL; REVIEW; SECOND TRIMESTER PREGNANCY; TRISOMY 18; TRISOMY 21;

EID: 17944377527     PISSN: 10188843     EISSN: None     Source Type: Journal    
DOI: 10.1159/000083783     Document Type: Review

References (62)

1. Al-Mufti R, et al: Investigation of maternal blood enriched for fetal cells: Role in screening and diagnosis of fetal trisomies. Am J Med Genet 1999;85:66-75.
2. Bianchi DW: Circulating fetal DNA: Its origin and diagnostic potential - A review. Placenta 2004;25(Suppl A):S93-S101.
3. Tabor A, et al: Randomised controlled trial of genetic amniocentesis in 4,606 low-risk women. Lancet 1986;i:1287-1293.
4. Nicolaides K, et al: Comparison of chorionic villus sampling and amniocentesis for fetal karyotyping at 10-13 weeks' gestation. Lancet 1994;344:435-439.
5. Sundberg K, et al: Randomised study of risk of fetal loss related to early amniocentesis versus chorionic villus sampling. Lancet 1997;350:697-703.
6. Snijders RJ, et al: Maternal age-specific risks for trisomies at 9-14 weeks' gestation. Prenat Diagn 1994;14:543-552.
7. Snijders RJ, Sebire NJ, Nicolaides KH: Maternal age and gestational age-specific risk for chromosomal defects. Fetal Diagn Ther 1995; 10:356-367.
8. Souka AP, et al: Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 2001;18:9-17.
9. Nicolaides KH, et al: Fetal nuchal translucency: Ultrasound screening for chromosomal defects in first trimester of pregnancy. BMJ 1992;304:867-869.
10. Herman A, et al: Comparison between disclosure and non-disclosure approaches for trisomy 21 screening tests. Hum Reprod 2002;17:1358-1362.
11. Wojdemann KR, et al: Quality assessment in prospective nuchal translucency screening for Down syndrome. Ultrasound Obstet Gynecol 2001;18:641-644.
12. Snijders RJ, et al: First-trimester trisomy screening: Nuchal translucency measurement training and quality assurance to correct and unify technique. Ultrasound Obstet Gynecol 2002;19:353-359.
13. Brizot ML, et al: Maternal serum pregnancy-associated plasma protein A and fetal nuchal translucency thickness for the prediction of fetal trisomies in early pregnancy. Obstet Gynecol 1994;84:918-922.
14. Spencer K, et al: A screening program for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein A. Ultrasound Obstet Gynecol 1999;13:231-237.
15. Krantz DA, et al: First-trimester Down syndrome screening using dried blood biochemistry and nuchal translucency. Obstet Gynecol 2000;96:207-213.
16. Bindra R, et al: One-stop clinic for assessment of risk for trisomy 21 at 11-14 weeks: A prospective study of 15,030 pregnancies. Ultrasound Obstet Gynecol 2002;20:219-225.
17. Spencer K, et al: 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;107:1271-1275.
18. Spencer K, et al: 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.
19. Schuchter K, et al: The first trimester 'combined test' for the detection of Down syndrome pregnancies in 4,939 unselected pregnancies. Prenat Diagn 2002;22:211-215.
20. Wapner R, et al: First-trimester screening for trisomies 21 and 18. N Engl J Med 2003;349:1405-1413.
21. Tul N, et al: 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 1999;19:1035-1042.
22. Spencer K, et al: 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 2000;20:411-416.
23. Spencer K, et al: Screening for triploidy by fetal nuchal translucency and maternal serum free beta-hCG and PAPP-A at 10-14 weeks of gestation. Prenat Diagn 2000;20:495-499.
24. Farkas LG, Katie MJ, Forrest CR: Surface anatomy of the face in Down's syndrome: Anthropometric proportion indices in the craniofacial regions. J Craniofac Surg 2001;12:519-524, discussion 525-526.
25. Keeling JW, Hansen BF, Kjaer I: Pattern of malformations in the axial skeleton in human trisomy 21 fetuses. Am J Med Genet 1997;68:466-471.
26. Stempfle N, et al: Skeletal abnormalities in fetuses with Down's syndrome: A radiographic post-mortem study. Pediatr Radiol 1999;29:682-688.
27. Larose C, et al: Comparison of fetal nasal bone assessment by ultrasound at 11-14 weeks and by postmortem X-ray in trisomy 21: A prospective observational study. Ultrasound Obstet Gynecol 2003;22:27-30.
28. Cicero S, et al: Absence of nasal bone in fetuses with trisomy 21 at 11-14 weeks of gestation: An observational study. Lancet 2001;358:1665-1667.
29. Otano L, et al: Association between first trimester absence of fetal nasal bone on ultrasound and Down syndrome. Prenat Diagn 2002;22:930-932.
30. Paz JE, et al: Previous miscarriage and still-birth as risk factors for other unfavourable outcomes in the next pregnancy. Br J Obstet Gynaecol 1992;99:808-812.
31. Zoppi MA, et al: Absence of fetal nasal bone and aneuploidies at first-trimester nuchal translucency screening in unselected pregnancies. Prenat Diagn 2003;23:496-500.
32. Orlandi F, et al: Measurement of nasal bone length at 11-14 weeks of pregnancy and its potential role in Down syndrome risk assessment. Ultrasound Obstet Gynecol 2003;22:36-39.
33. Viora E, et al: Ultrasound evaluation of fetal nasal bone at 11 to 14 weeks in a consecutive series of 1,906 fetuses. Prenat Diagn 2003;23: 784-787.
34. Senat MV, et al: Intra- and interoperator variability in fetal nasal bone assessment at 11-14 weeks of gestation. Ultrasound Obstet Gynecol 2003;22:138-141.
35. Wong SF, Choi H, Ho LC: Nasal bone hypoplasia: Is it a common finding amongst chromosomally normal fetuses of southern Chinese women? Gynecol Obstet Invest 2003;56:99-101.
36. Cicero S, et al: Nasal bone hypoplasia in trisomy 21 at 15-22 weeks' gestation. Ultrasound Obstet Gynecol 2003;21:15-18.
37. Cicero S, et al: Absent nasal bone at 11-14 weeks of gestation and chromosomal defects. Ultrasound Obstet Gynecol 2003;22:31-35.
38. Cicero S, et al: Learning curve for sonographic examination of the fetal nasal bone at 11-14 weeks. Ultrasound Obstet Gynecol 2003;22: 135-137.
39. Cicero S, et al: Integrated ultrasound and biochemical screening for trisomy 21 using fetal nuchal translucency, absent fetal nasal bone, free beta-hCG and PAPP-A at 11 to 14 weeks. Prenat Diagn 2003;23:306-310.
40. Sebire NJ, et al: Screening for trisomy 21 in twin pregnancies by maternal age and fetal nuchal translucency thickness at 10-14 weeks of gestation. Br J Obstet Gynaecol 1996;103:999-1003.
41. Pandya PP, et al: Nuchal translucency thickness and crown-rump length in twin pregnancies with chromosomally abnormal fetuses. J Ultrasound Med 1995;14:565-568.
42. Maymon R, et al: Comparison of nuchal translucency measurement and second-trimester triple serum screening in twin versus singleton pregnancies. Prenat Diagn 1999;19:727-731.
43. Sebire NJ, et al: Early prediction of severe twin-to-twin transfusion syndrome. Hum Reprod 2000;15:2008-2010.
44. Sebire NJ, et al: Increased nuchal translucency thickness at 10-14 weeks of gestation as a predictor of severe twin-to-twin transfusion syndrome. Ultrasound Obstet Gynecol 1997;10: 86-89.
45. Maymon R, et al: The feasibility of nuchal translucency measurement in higher order multiple gestations achieved by assisted reproduction. Hum Reprod 1999;14:2102-2105.
46. Snijders RJ, et al: 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;352:343-346.
47. Theodoropoulos P, et al: Evaluation of first-trimester screening by fetal nuchal translucency and maternal age. Prenat Diagn 1998;18:133-137.
48. Thilaganathan B, et al: First trimester nuchal translucency: Effective routine screening for Down's syndrome. Br J Radiol 1999;72:946-948.
49. Schwarzler P, et al: Screening for fetal aneuploidies and fetal cardiac abnormalities by nuchal translucency thickness measurement at 10-14 weeks of gestation as part of routine antenatal care in an unselected population. Br J Obstet Gynaecol 1999;106:1029-1034.
50. O'Callaghan SP, et al: First trimester ultrasound with nuchal translucency measurement for Down syndrome risk estimation using software developed by the Fetal Medicine Foundation, United Kingdom - The first 2,000 examinations in Newcastle, New South Wales, Australia. Aust NZ J Obstet Gynaecol 2000;40:292-295.
51. Brizot ML, et al: First-trimester screening for chromosomal abnormalities by fetal nuchal translucency in a Brazilian population. Ultrasound Obstet Gynecol 2001;18:652-655.
52. Gasiorek-Wiens A, et al: Screening for trisomy 21 by fetal nuchal translucency and maternal age: A multicenter project in Germany, Austria and Switzerland. Ultrasound Obstet Gynecol 2001;18:645-648.
53. Sau KLBADMA: Screening for trisomy 21: The significance of a positive second trimester serum screen in women screen negative after a nuchal translucency scan. J Obstet Gynaecol 2001;21:145-148.
54. Zoppi MA, et al: Fetal nuchal translucency screening in 12,495 pregnancies in Sardinia. Ultrasound Obstet Gynecol 2001;18:649-651.
55. Prefumo F, Thilaganathan B: Agreement between predicted risk and prevalence of Down syndrome in first trimester nuchal translucency screening. Prenat Diagn 2002;22:917-918.
56. Chasen ST, et al: First-trimester screening for aneuploidy with fetal nuchal translucency in a United States population. Ultrasound Obstet Gynecol 2003;22:149-151.
57. Roberts LJ, et al: First trimester fetal nuchal translucency: Problems with screening the general population. Part 1. Br J Obstet Gynaecol 1995;102:381-385.
58. Bewley S, et al: First trimester fetal nuchal translucency: Problems with screening the general population. Part 2. Br J Obstet Gynaecol 1995;102:386-388.
59. Kornman LH, et al: 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 1996;16:797-805.
60. Haddow JE, et al: Screening of maternal serum for fetal Down's syndrome in the first trimester. N Engl J Med 1998;338:955-961.
61. Crossley JA, et al: Combined ultrasound and biochemical screening for Down's syndrome in the first trimester: A Scottish multicentre study. BJOG 2002;109:667-676.
62. Wald NJ, et al: First and second trimester antenatal screening for Down's syndrome: The results of the Serum, Urine and Ultrasound Screening Study (SURUSS). Health Technol Assess 2003;7:1-77.