Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11-13 weeks

Prenatal Diagnosis

Volumn 31, Issue 1, 2011, Pages 90-102

  Syngelaki, Argyro ^a,b,c   Chelemen, Teodora ^a,b   Dagklis, Themistoklis ^a   Allan, Lindsey ^a   Nicolaides, Kypros H ^a,b,c  

^a KING S COLLEGE HOSPITAL   (United Kingdom)

^b MEDWAY MARITIME HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE HOSPITAL   (United Kingdom)

Author keywords

Fetal abnormalities; First trimester screening; Nuchal translucency; Prenatal diagnosis; Ultrasound

Indexed keywords

ANEUPLOIDY; ARTICLE; BONE DYSPLASIA; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CLEFT FACE; CORPUS CALLOSUM; CYSTITIS; DIAPHRAGM HERNIA; FEMALE; FETUS (ANATOMY); FETUS DISEASE; FETUS MONITORING; FIRST TRIMESTER PREGNANCY; GASTROSCHISIS; GENE EXPRESSION; GESTATION PERIOD; GYNECOLOGICAL EXAMINATION; HOLOPROSENCEPHALY; HUMAN; INTESTINE OBSTRUCTION; LUNG LESION; NUCHAL TRANSLUCENCY MEASUREMENT; PHENOTYPE; POLYDACTYLY; PRENATAL SCREENING; PRIORITY JOURNAL; PROSPECTIVE STUDY; SPINA BIFIDA; UMBILICAL HERNIA;

ANEUPLOIDY; CONGENITAL ABNORMALITIES; FEMALE; GASTROSCHISIS; GESTATIONAL AGE; HEART DEFECTS, CONGENITAL; HUMANS; KIDNEY; LIMB DEFORMITIES, CONGENITAL; MEDLINE; MUSCULOSKELETAL ABNORMALITIES; NERVOUS SYSTEM MALFORMATIONS; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

CEPHALOCHORDATA;

EID: 78650822014     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2642     Document Type: Article

References (51)

1. Bahado-Singh RO, Wapner R, Thom E, et al. 2005. Elevated first-trimester nuchal translucency increases the risk of congenital heart defects. Am J Obstet Gynecol 192: 1357-1361.
2. Becker R, Wegner RD. 2006. Detailed screening for fetal anomalies and cardiac defects at the 11-13-week scan. Ultrasound Obstet Gynecol 27: 613-618.
3. Bilardo CM, Pajkrt E, de Graaf I, Mol BW, Bleker OP. 1998. Outcome of fetuses with enlarged nuchal translucency and normal karyotype. Ultrasound Obstet Gynecol 11: 401-406.
4. Bricker L, Garcia J, Henderson J, et al. 2000. Ultrasound screening in pregnancy: a systematic review of the clinical effectiveness, cost-effectiveness and women's views. Health Technol Assess 4: 1-193.
5. Bruns RF, Moron AF, Murta CGV, Goncalves LFA, Zamith MM. 2006. The role of nuchal translucency in the screening of congenital heart defects. Arq Bras Cardiol 87: 272-279.
6. Carvalho MH, Brizot ML, Lopes LM, et al. 2002. Detection of fetal structural abnormalities at the 11-14 week ultrasound scan. Prenat Diagn 22: 1-4.
7. Carvalho JS, Mavrides E, Shinebourne AE, Campbell S, Thilaganathan B. 2002. Improving the effectiveness of routine prenatal screening for major congenital heart defects. Heart 88: 387-391.
8. Cavoretto P, Molina F, Poggi S, Davenport M, Nicolaides KH. 2008. Prenatal diagnosis and outcome of echogenic fetal lung lesions. Ultrasound Obstet Gynecol 32: 769-783.
9. Cedergren M, Selbing A. 2006. Detection of fetal structural abnormalities by an 11-14-week ultrasound dating scan in an unselected Swedish population. Acta Obstet Gynecol Scand 85: 912-915.
10. Chaoui R, Benoit B, Mitkowska-Wozniak H, Heling KS, Nicolaides KH. 2009. Assessment of intracranial translucency (IT) in the detection of spina bifida at the 11-13-week scan. Ultrasound Obstet Gynecol 34: 249-252.
11. Chen M, Lam YH, Lee CP, Tang MH. 2004. Ultrasound screening of fetal structural abnormalities at 12 to 14 weeks in Hong Kong. Prenat Diagn 24: 92-97.
12. Chen M, Lee CP, Lam YHH, et al. 2008. Comparison of nuchal and detailed morphology ultrasound examinations in early pregnancy for fetal structural abnormality screening: a randomized controlled trial. Ultrasound Obstet Gynecol 31: 136-146.
13. Dane B, Dane C, Sivri D, Kiray M, Cetin A, Yayla M. 2007. Ultrasound screening for fetal major abnormalities at 11-14 weeks. Acta Obstet Gynecol Scand 86: 666-670.
14. Daskalakis G, Sebire NJ, Jurkovic D, Snijders RJM, Nicolaides KH. 1997. Body stalk anomaly at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 10: 416-418.
15. D'Ottavio G, Mandruzzato G, Meir YJ, Rustico MA, Fischer-Tamaro L, Conoscenti G. 1998. Comparison of first trimester and second trimester screening for fetal anomalies. Ann NY Acad Sci 847: 200-209.
16. Ebrashy A, El Kateb A, Momtaz M, et al. 2010. 13-14-Week fetal anatomy scan: a 5-year prospective study. Ultrasound Obstet Gynecol 35: 292-296.
17. Economides DL, Braithwaite JM. 1998. First trimester ultrasonographic diagnosis of fetal structural abnormalities in a low risk population. Br J Obstet Gynaecol 105: 53-57.
18. Garne E, Dolk H, Loane M, Boyd PA. 2010. EUROCAT website data on prenatal detection rates of congenital anomalies. J Med Screen 17: 97-98.
19. Guariglia L, Rosati P. 2000. Transvaginal sonographic detection of embryonic-fetal abnormalities in early pregnancy. Obstet Gynecol 96: 328-332.
20. Hafner E, Schuchter K, Liebhart E, Philipp K. 1998. Results of routine fetal nuchal translucency measurement at weeks 10-13 in 4233 unselected pregnant women. Prenat Diagn 18: 29-34.
21. Hernadi L, Torocsik M. 1997. Screening for fetal anomalies in the 12th week of pregnancy by transvaginal sonography in an unselected population. Prenat Diagn 17: 753-759.
22. Hyett J, Perdu M, Sharland G, Snijders R, Nicolaides KH. 1999. Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study. BMJ 318: 81-85.
23. Johnson SP, Sebire NJ, Snijders RJM, Tunkel S, Nicolaides KH. 1997. Ultrasound screening for anencephaly at 10-14 weeks of gestestation. Ultrasound Obstet Gynecol 9: 14-16.
24. Kagan KO, Stamboulidou I, Syngelaki A, Cruz J, Nicolaides KH. 2010. The 11-13-week scan: diagnosis and outcome of holoprosencephaly, exomphalos and megacystis. Ultrasound Obstet Gynecol 36: 10-14.
25. Kagan KO, Wright D, Baker A, Sahota D, Nicolaides KH. 2008. 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 31: 618-624.
26. Lachmann R, Chaoui R, Moratalla J, Picciarelli G, Nicolaides KH. 2011. Posterior brain in fetuses with open spina bifida at 11-13 weeks. Prenat Diagn 31(1): 103-106.
27. Liao AW, Sebire NJ, Geerts L, Cicero S, Nicolaides KH. 2003. Megacystis at 10-14 weeks of gestation: chromosomal defects and outcome according to bladder length. Ultrasound Obstet Gynecol 21: 338-341.
28. Mavrides E, Cobian-sanchez F, Tekay A, et al. 2001. Limitations of using first-trimester nuchal translucency measurement in routine screening for major congenital heart defects. Ultrasound Obstet Gynecol 17: 106-110.
29. Michailidis GD, Economides DL. 2001. Nuchal translucency measurement and pregnancy outcome in karyotypically normal fetuses. Ultrasound Obstet Gynecol 17: 102-105.
30. Molina FS, Avgidou K, Kagan KO, Poggi S, Nicolaides KH. 2006. Cystic hygromas, nuchal edema, and nuchal translucency at 11-14 weeks of gestation. Obstet Gynecol 107: 678-683.
31. Muller MA, Clur SA, Timmerman E, Bilardo CM. 2007. Nuchal translucency measurement and congenital heart defects: models association in low-risk pregnancies. Prenat Diagn 27: 164-169.
32. National Collaborating Centre for Women's and Children's Health. 2008. Antenatal Care: Routine Care for the Healthy Pregnant Woman. Clinical Guideline. Commissioned by the National Institute for Clinical Excellence. RCOG Press: London; 218-227.
33. Orvos H, Wayda K, Kozinsky Z, Katona M, Pal A, Szabo J. 2002. Increased nuchal translucency and congenital heart defects in euploid fetuses. The Szeged experience. Eur J Obstet Gynecol Reprod Biol 101: 124-128.
34. Oztekin O, Oztekin D, Tinar S, Adibelli Z. 2009. Ultrasonographic diagnosis of fetal structural abnormalities in prenatal screening at 11-14 weeks. Diagn Interv Radiol 15: 221-225.
35. Pritchard JA. 1966. Fetal swallowing and amniotic fluid volume. Obstet Gynecol 28: 606-610.
36. Rabinowitz R, Peters MT, Vyas S, Campbell S, Nicolaides KH. 1989. Measurement of fetal urine production in normal pregnancy by real-time ultrasonography. Am J Obstet Gynecol 161: 1264-1266.
37. Ren T, Anderson A, Shen W, et al. 2006. Imaging, anatomical, and molecular analysis of callosal formation in the developing human fetal brain. Anat Rec A Discov Mol Cell Evol Biol 288A: 191-204.
38. Robinson HP, Fleming JEE. 1975. A critical evaluation of sonar crown-rump length measurements. Br J Obstet Gynaecol 82: 702-710.
39. Saltvedt S, Almstrom H, Kublickas M, Valentin L, Grunewald C. 2006. Detection ofmalformations in chromosomally normal fetuses by routine ultrasound at 12 or 18 weeks of gestation-a randominsed controlled trial in 39, 572 pregnancies. BJOG 113: 664-674.
40. Schwarzler P, Carvalho JS, Senat MV, et al. 1999. 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. BJOG 106: 1029-1034.
41. Sebire NJ, von Kaisenberg C, Rubio C, Snijders RJM, Nicolaides KH. 1996. Fetal megacystis at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 8: 387-390.
42. Sebire NJ, Snijders RJ, Davenport M, Greenough A, Nicolaides KH. 1997. Fetal nuchal translucency thickness at 10-14 weeks' gestation and congenital diaphragmatic hernia. Obstet Gynecol 90: 943-946.
43. Sepulveda W, Wong AE, Marinez-Ten P, Perez-Pedregosa J. 2010. Retronasal triangle: a sonographic landmark for the screening of cleft palate in the first trimester. Ultrasound Obstet Gynecol 35: 7-13.
44. Sepulveda W, Dezerega V, Be C. 2004. First-trimester sonographic diagnosis of holoprosencephaly: value of the "butterfly" sign. J Ultrasound Med 23: 761-765.
45. Snijders RJ, Noble P, Sebire NJ, Souka AP, Nicolaides KH. 1998. 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 352: 343-346.
46. Souka AP, Von Kaisenberg CS, Hyett JA, Sonek JD, Nicolaides KH. 2005. Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol 192: 1005-1021.
47. Taipale P, Ammala M, Salonen R, Hilesmaa V. 2004. Two-stage ultrasonography in screening for fetal anomalies at 13-14 and 18-22 weeks of gestation. Acta Obstet Gynecol Scand 83: 1141-1146.
48. Westin M, Saltvedt S, Bergman G, Almstro H, Grunewald C, Valentin L. 2006. Is measurement of nuchal translucency thickness a useful screening tool for heart defects? A study of 16, 383 fetuses. Ultrasound Obstet Gynecol 27: 632-639.
49. Westin M, Saltvedt S, Almstro H, Grunewald C, Valentin L. 2007. By how much does increased nuchal translucency increase the risk of adverse pregnancy outcome in chromosomally normal fetuses? A study of 16 260 fetuses derived from an unselected pregnant population. Ultrasound Obstet Gynecol 29: 150-158.
50. Whitlow BJ, Chatzipapas IK, Lazanakis ML, Kadir RA, Economides DL. 1999. The value of sonography in early pregnancy for the detection of fetal abnormalities in an unselected population. BJOG 106: 929-936.
51. Wright D, Kagan KO, Molina FS, Gazzoni A, Nicolaides KH. 2008. A mixture model of nuchal translucency thickness in screening for chromosomal defects. Ultrasound Obstet Gynecol 31: 376-383.