The role of fetal nuchal translucency in prenatal screening

Current Opinion in Obstetrics and Gynecology

Volumn 14, Issue 6, 2002, Pages 577-585

  Snijders, Rosalinde ^a   Smith, Eric ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Audit; Counselling; First trimester screening; Nasal bone; Nuchal translucency; Trisomy 21

Indexed keywords

CONGENITAL HEART MALFORMATION; ECHOCARDIOGRAPHY; FETUS; FETUS ECHOGRAPHY; FETUS MALFORMATION; FIRST TRIMESTER PREGNANCY; GENETIC DISORDER; HUMAN; PRENATAL SCREENING; PRIORITY JOURNAL; QUALITY CONTROL; QUANTITATIVE ANALYSIS; REVIEW; SECOND TRIMESTER PREGNANCY; SPONTANEOUS ABORTION;

BIOLOGICAL MARKERS; CHROMOSOME ABERRATIONS; DOWN SYNDROME; FEMALE; GENETIC COUNSELING; HUMANS; MASS SCREENING; NECK; PATIENT ACCEPTANCE OF HEALTH CARE; PREGNANCY; PREGNANCY TRIMESTER, FIRST; ULTRASONOGRAPHY, PRENATAL;

EID: 0036908671     PISSN: 1040872X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001703-200212000-00002     Document Type: Review

References (57)

1. Bilardo CM, Muller MA, Paijkrt E. Outcome of fetuses with increased nuchal translucency. Curr Opin Obstet Gynecol 2001; 13:169-174.
2. Gasiorek-Wiens A, Tercanli S, Kozlowski P, 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. An important example of a large multicentre study that demonstrates that with a standardized approach in measuring fetal NT optimal results can be achieved.
3. Zoppi MA, Ibba RM, Floris M, Monni G. Fetal nuchal translucency screening in 12 495 pregnancies in Sardinia. Ultrasound Obstet Gynecol 2001; 18:649-651. An important example of a large single-centre study that demonstrates that with a standardized approach in measuring fetal NT optimal results can be achieved.
4. Michailidis GD, Spencer K, Economides DL. The use of nuchal translucency measurement and second trimester biochemical markers in screening for Down's syndrome. Br J Obstet Gynaecol 2001; 108:1047-1052.
5. Brizot ML, Carvalho MH, Liao AW, et al. First-trimester screening for chromosomal abnormalities by fetal nuchal translucency in a Brazilian population. Ultrasound Obstet Gynecol 2001; 18:652-655. A single centre study that provides important data, not only on the efficacy of first trimester screening, but also on the different impact that screening may have depending on the cultural background.
6. Crossley JA, Aitken DA, Cameron AD, et al. Combined ultrasound and biochemical screening for Down's syndrome in the first trimester: A Scottish multicentre study. Br J Obstet Gynaecol 2002; 109:667-676. A multicentre study that demonstrates that first trimester screening is effective and feasible, although data support the recommendation that, with adequate training and quality control, results can be improved.
7. Wayda K, Kereszturi A, Orvos H, et al. Four years experience of first-trimester nuchal translucency screening for fetal aneuploidies with increasing regional availability. Acta Obstet Gynecol Scand 2001; 80:1104-1109.
8. Panburana P, Ajjimakorn S, Tungkajiwangoon P. First trimester Down syndrome screening by nuchal translucency in a Thai population. Int J Gynaecol Obstet 2001; 75:311-312.
9. Rozenberg P, Malagrida L, Cuckle H, et al. Down's syndrome screening with nuchal translucency at 12(+0)-14(+0) weeks and maternal serum markers at 14(+1)-17(+0) weeks: A prospective study. Hum Reprod 2002; 17:1093-1098.
10. Schuchter K, Hafner E, Stangl G, et al. Sequential screening for trisomy 21 by nuchal translucency measurement in the first trimester and maternal serum biochemistry in the second trimester in a low-risk population. Ultrasound Obstet Gynecol 2001; 18:23-25.
11. Herman A, Dreazen E, Maymon R, et al. Implementation of nuchal translucency image-scoring method during ongoing audit. Ultrasound Obstet Gynecol 1999; 14:388-392.
12. Snijders RJ, Thom EA, Zachary JM, 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. Wojdemann KR, Christiansen M, Sundberg K, et al. Quality assessment in prospective nuchal translucency screening for Down syndrome. Ultrasound Obstet Gynecol 2001; 18:641-644.
14. Paul C, Krampl E, Skentou C, et al. Measurement of fetal nuchal translucency thickness by three-dimensional ultrasound. Ultrasound Obstet Gynecol 2001; 18:481-484.
15. Eppel W, Worda C, Frigo P, Lee A. Three- versus two-dimensional ultrasound for nuchal translucency thickness measurements: Comparison of feasibility. Prenat Diagn 2001; 21:596-601.
16. Clementschitsch G, Hasenohrl G, Schaffer H, Steiner H. Comparison between two- and three-dimensional ultrasound measurements of nuchal translucency. Ultrasound Obstet Gynecol 2001; 18:475-480.
17. Michailidis GD, Papageorgiou P, Economides DL. Assessment of fetal anatomy in the first trimester using two- and three-dimensional ultrasound. Br J Radiol 2002; 75:215-219.
18. Jou HJ, Wu SC, Li TC, et al. Relationship between fetal nuchal translucency and crown-rump length in an Asian population. Ultrasound Obstet Gynecol 2001; 17:111-114.
19. Thilagananathan B, Khare M, Williams B, Wathen NC. Influence of ethnic origin on nuchal translucency screening for Down's syndrome. Ultrasound Obstet Gynecol 1998; 12:112-114.
20. Chen M, Hang Lam Y, Hoi Yin Tang M, et al. The effect of ethnic origin on nuchal translucency at 10-14 weeks of gestation. Prenat Diagn 2002; 22:576-578.
21. Wald NJ, Watt HC, Hackshaw AK. Integrated screening for Down's syndrome on the basis of tests performed during the first and second trimesters. N Engl J Med 1999; 341:461-467.
22. Spencer K, Spencer CE, Power M, 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. Br J Obstet Gynaecol 2000; 107:1271-1275.
23. Cicero S, Curcio P, Papageorghiou A, 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. Important observational data that may enhance the efficacy of first trimester screening.
24. Hutchon D. Absence of nasal bone and detection of trisomy 21 [comment]. Lancet 2002; 359:1343.
25. Monni G, Zoppi MA, Ibba RM. Absence of nasal bone and detection of trisomy 21 [comment]. Lancet 2002; 359:1343.
26. Wald N. First trimester nuchal translucency screening. J Ultrasound Med 2002; 21:481.
27. Members of the Faster Trial. First trimester nuchal translucency screening. J Ultrasound Med 2002; 21:481-483.
28. Chasen ST, Skupski DW, Chervenak FA, McCullough LB. First trimester nuchal translucency screening. J Ultrasound Med 2002; 21:483-486.
29. Cuckle H. Time for a total shift to first trimester screening for Down's syndrome. Lancet 2001; 358:1658-1659.
30. Pajkrt E, Mol BWJ, Bleker OP, Bilardo CM. Pregnancy outcome and nuchal translucency measurements in fetuses with a normal karyotype. Prenat Diagn 1999; 19:1104-1108.
31. Souka AP, Krampl E, Bakalis S, et al. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 2001; 18:9-17. The data collected in this ongoing study from the FMF, London still provide the largest set of data on anomalies observed in fetuses with increased NT and normal karyotype. Furthermore, the paper gives a comprehensive overview of the literature on this subject.
32. Hiippala A, Eronen M, Taipale P, et al. Fetal nuchal translucency and normal chromosomes: A long-term follow-up study. Ultrasound Obstet Gynecol 2001; 8:18-22. An important study that provides detail on the long-term outcome of pregnancies with increased NT.
33. Senat MV, De Keersmaecker B, Audibert F, et al. Pregnancy outcome in fetuses with increased nuchal translucency and normal karyotype. Prenat Diagn 2002; 22:345-349. An important study that provides detail on the long-term outcome of pregnancies with increased NT.
34. Haak MC, Bartelings MM, Jackson DG, et al. Increased nuchal translucency is associated with jugular lymphatic distension. Hum Reprod 2002; 17:1086-1092. The findings from this study provide an important addition to the list of possible aetiological mechanisms underlying increased fetal NT.
35. Hyett J, Perdu M, Sharland G, et al. Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: Population based cohort study. BMJ 1999; 318:81-85.
36. Ghi T, Huggon IC, Zosmer N, Nicolaides KH. Incidence of major structural cardiac defects associated with increased nuchal translucency but normal karyotype. Ultrasound Obstet Gynecol 2001; 18:610-614. A large study on the efficacy of fetal NT screening for cardiac defects.
37. Mavrides E, Cobian-Sanchez F, Tekay A, et al. Limitations of using first-trimester nuchal translucency measurement in routine screening for major congenital heart defects. Ultrasound Obstet Gynecol 2001; 17:106-110. A large study on the efficacy of fetal NT screening for cardiac defects.
38. Orvos H, Wayda K, Kozinszky Z, et al. Increased nuchal translucency and congenital heart defects in euploid fetuses. The Szeged experience. Eur J Obstet Gynecol Reprod Biol 2002; 101:124-128. A large study on the efficacy of fetal NT screening for cardiac defects.
39. Haak MC, Bartelings MM, Gittenberger-De Groot AC, Van Vugt JM. Cardiac malformations in first-trimester fetuses with increased nuchal translucency: Ultrasound diagnosis and postmortem morphology. Ultrasound Obstet Gynecol 2002; 20:14-21. An important study to evaluate the possibility of reliably diagnosing cardiac defects in the first trimester.
40. Huggon IC, Ghi T, Cook AC, et al. Fetal cardiac abnormalities identified prior to 14 weeks' gestation. Ultrasound Obstet Gynecol 2002; 20:22-29. An important study to evaluate the possibility of reliably diagnosing cardiac defects in the first trimester.
41. Bilardo CM, Muller MA, Zikulnig L, et al. Ductus venosus studies in fetuses at high risk for chromosomal or heart abnormalities: Relationship with nuchal translucency measurement and fetal outcome. Ultrasound Obstet Gynecol 2001; 17:288-294. A study assessing the possible contribution of Doppler velocimetry in first trimester screening.
42. Mavrides E, Sairam S, Hollis B, Thilaganathan B. Screening for aneuploidy in the first trimester by assessment of blood flow in the ductus venosus. Br J Obstet Gynaecol 2002; 109:1015-1019.
43. Viora E, Sciarrone A, Bastonero S, et al. Increased nuchal translucency in the first trimester as a sign of osteogenesis imperfecta. Am J Med Genet 2002; 109:336-337.
44. Makrydimas G, Souka A, Skentou H, et al. Osteogenesis imperfecta and other skeletal dysplasias presenting with increased nuchal translucency in the first trimester. Am J Med Genet 2001; 98:117-120.
45. Johnson JM, Babul-Hirji R, Chitayat D. First-trimester increased nuchal translucency and fetal hypokinesia associated with Zellweger syndrome. Ultrasound Obstet Gynecol 2001; 17:344-346.
46. de Jong-Pleij EA, Stoutenbecek P, van der Mark-Batseva NN, et al. The association of spinal muscular atrophy type II and increased nuchal translucency. Ultrasound Obstet Gynecol 2002; 19:312-313.
47. Tercanli S, Miny P, Siebert MS, et al. Fanconi anemia associated with increased nuchal translucency detected by first-trimester ultrasound. Ultrasound Obstet Gynecol 2001; 17:160-162.
48. Souka AP, Bower S, Geerts L, et al. Blackfan-Diamond anemia and dyserythropoietic anemia presenting with increased nuchal translucency at 12 weeks of gestation. Ultrasound Obstet Gynecol 2002; 20:197-199.
49. Souka AP, Krampl E, Geerts L, Nicolaides KH. Congenital lymphedema presenting with increased nuchal translucency at 13 weeks of gestation. Prenat Diagn 2002; 22:91-92.
50. Souka AP, Skentou H, Geerts L, et al. Congenital nephrotic syndrome presenting with increased nuchal translucency in the first trimester. Prenat Diagn 2002; 22:93-95.
51. Masturzo B, Hyett JA, Kalache KD, et al. Increased nuchal translucency as a prenatal manifestation of congenital adrenal hyperplasia. Prenat Diagn 2001; 21:314-316.
52. Zoppi MA, Ibba RM, Putzolu M, et al. Nuchal translucency and the acceptance of invasive prenatal chromosomal diagnosis in women aged 35 years and older. Obstet Gynecol 2001; 97:916-920. A comprehensive study to assess acceptance and action on results from first trimester screening.
53. De Graaf IM, Tijmstra T, Bleker OP, Van Lith JM. Womens' preference in Down syndrome screening. Prenat Diagn 2002; 22:624-629. This study provides preliminary data on womens' preferences with respect to the timing of screening.
54. De Vigan C, Vodovar V, Goujard J, et al. Mothers' knowledge of screening for trisomy 21 in 1999: A survey in Paris maternity units. Eur J Obstet Gynecol Reprod Biol 2002; 104:14-20.
55. Williams C, Alderson P, Farsides B. Dilemmas encountered by health practitioners offering nuchal translucency screening: A qualitative case study. Prenat Diagn 2002; 22:216-220.
56. Carvalho MH, Brizot ML, Lopes LM, et al. Detection of fetal structural abnormalities at the 11-14 week ultrasound scan. Prenat Diagn 2002; 22:1-4. An important study providing details on the efficacy of prenatal ultrasound screening for fetal anomalies at different stages of pregnancy.
57. Bilardo CM. Increased nuchal translucency and normal karyotype: Coping with uncertainty. Ultrasound Obstet Gynecol 2001; 17:99-101.