Clinical value of the 11- to 13+6-week sonogram for detection of congenital malformations: A review

American Journal of Perinatology

Volumn 28, Issue 2, 2011, Pages 117-123

  Borrell, Antoni ^a   Robinson, Julian N ^b   Santolaya Forgas, Joaquin ^c  

^a HOSPITAL CLÍNIC   (Spain)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

Author keywords

fetal anatomy; fetal malformations; first trimester ultrasound; prenatal diagnosis; Prenatal ultrasonography

Indexed keywords

ACRANIA; BRAIN MALFORMATION; CLINICAL EVALUATION; CONGENITAL DIAPHRAGM HERNIA; CONGENITAL HEART MALFORMATION; CONGENITAL HYDROCEPHALUS; CONGENITAL MALFORMATION; DANDY WALKER SYNDROME; DEVELOPMENTAL STAGE; ECHOGRAPHY; ENCEPHALOCELE; ESOPHAGUS ATRESIA; EXENCEPHALY; FETUS HYDROPS; FETUS MALFORMATION; FIRST TRIMESTER PREGNANCY; FLATFOOT; FLUID BALANCE; GASTROSCHISIS; HOLOPROSENCEPHALY; HUMAN; HYDRONEPHROSIS; HYGROMA; KIDNEY AGENESIS; KIDNEY POLYCYSTIC DISEASE; LIMB MALFORMATION; MECKEL SYNDROME; MEGABLADDER; NUCHAL TRANSLUCENCY MEASUREMENT; OLIGOHYDRAMNIOS; OMPHALOCELE; PHOCOMELIA; POLYDACTYLY; PREGNANCY; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PYELECTASIS; REVIEW; SPINA BIFIDA; THORAX MALFORMATION; URINARY TRACT OBSTRUCTION;

CONGENITAL ABNORMALITIES; FEMALE; HUMANS; PREGNANCY; PREGNANCY TRIMESTER, FIRST; SENSITIVITY AND SPECIFICITY; ULTRASONOGRAPHY, PRENATAL;

EID: 79551508630     PISSN: 07351631     EISSN: 10988785     Source Type: Journal    
DOI: 10.1055/s-0030-1263302     Document Type: Review

References (50)

1. D'Ottavio G, Mandruzzato G, Meir Y J. et al. Comparisons of first and second trimester screening for f (Pubitemid 28370315)
2. Whitlow B J., Chatzipapas I K., Lazanakis M L., Kadir R A., Economides D L. The value of sonography in early pregnancy for the detection of fetal abnormalities in an unselected population. Br J Obstet Gynaecol 1999 106 929-936 (Pubitemid 29415623)
3. Carvalho M H., Brizot M L., Lopes L M., Chiba C H., Miyadahira S, Zugaib M. Detection of fetal structural abnormalities at the 11-14 week ultrasound scan. Prenat Diagn 2002 22 1-4 (Pubitemid 34146039)
4. Taipale P, Ammälä M, Salonen R, Hiilesmaa V. Two-stage ultrasonography in screening for fetal anomalies at 13-14 and 18-22 weeks of gestation. Acta Obstet Gynecol Scand 2004 83 1141-1146 (Pubitemid 39626189)
5. Souka A P., Pilalis A, Kavalakis I et al. Screening for major structural abnormalities at the 11- to 14-week ultrasound scan. Am J Obstet Gynecol 2006 194 393-396 (Pubitemid 43183690)
6. Cedergren M, Selbing A. Detection of fetal structural abnormalities by an 11-14-week ultrasound dating scan in an unselected Swedish population. Acta Obstet Gynecol Scand 2006 85 912-915 (Pubitemid 44114948)
7. Saltvedt S, Almström H, Kublickas M, Valentin L, Grunewald C. Detection of malformations in chromosomally normal fetuses by routine ultrasound at 12 or 18 weeks of gestationa randomised controlled trial in 39,572 pregnancies. BJOG 2006 113 664-674 (Pubitemid 43781697)
8. Dane B, Dane C, Sivri D, Kiray M, Cetin A, Yayla M. Ultrasound screening for fetal major abnormalities at 11-14 weeks. Acta Obstet Gynecol Scand 2007 86 666-670 (Pubitemid 46801801)
9. Weiner Z, Goldstein I, Bombard A, Applewhite L, Itzkovits-Eldor J. Screening for structural fetal anomalies during the nuchal translucency ultrasound examination. Am J Obstet Gynecol 2007 197 181 e1-e5
10. Chen M, Lee C P., Lam Y H. et al. Comparison of nuchal and detailed morphology ultrasound examinations in early pregnancy for fetal structural abnormality screening: a randomized controlled trial. Ultrasound Obstet Gynecol 2008 31 136-146 discussion 146
11. +6 weeks scan. Available at: http://www.fetalmedicine.com/fmf/FMF-English.pdf Accessed 5/3/2010
12. Borrell A, Robinson J N., Santolaya-Forgas J. Report on the 11- to 13 + 6-week ultrasound evaluation as a screening test for trisomy 21 in singleton pregnancies. Am J Perinatol 2009 26 703-710
13. Bekker M N. A normal 20-week scan of a euploid fetus with a history of first-trimester increased nuchal translucency: caution or reassurance? Ultrasound Obstet Gynecol 2007 30 8-10 (Pubitemid 47074845)
14. Senat M V., Bussières L, Couderc S et al. Long-term outcome of children born after a first-trimester measurement of nuchal translucency at the 99th percentile or greater with normal karyotype: a prospective study. Am J Obstet Gynecol 2007 196 53.e1-e6
15. Bilardo C M., Müller M A., Zikulnig L, Schipper M, Hecher K. 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 (Pubitemid 32417441)
16. Westin M, Saltvedt S, Almström H, Grunewald C, Valentin L. 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 2007 29 150-158 (Pubitemid 46326587)
17. Rottem S. IRONFANa sonographic window into the natural history of fetal anomalies. International Registry of the Onset of Fetal Anomalies. Ultrasound Obstet Gynecol 1995 5 361-363
18. Johnson S P., Sebire N J., Snijders R J., Tunkel S, Nicolaides K H. Ultrasound screening for anencephaly at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 1997 9 14-16 (Pubitemid 27160619)
19. Bernard J P., Suarez B, Rambaud C, Muller F, Ville Y. Prenatal diagnosis of neural tube defect before 12 weeks' gestation: direct and indirect ultrasonographic semeiology. Ultrasound Obstet Gynecol 1997 10 406-409 (Pubitemid 28055018)
20. Matias A, Huggon I, Areias J C., Montenegro N, Nicolaides K H. Cardiac defects in chromosomally normal fetuses with abnormal ductus venosus blood flow at 10-14 weeks. Ultrasound Obstet Gynecol 1999 14 307-310 (Pubitemid 30032352)
21. Murta C GV, Moron A F., Avila M AP, Weiner C P. Application of ductus venosus Doppler velocimetry for the detection of fetal aneuploidy in the first trimester of pregnancy. Fetal Diagn Ther 2002 17 308-314
22. Zoppi M A., Putzolu M, Ibba R M., Floris M, Monni G. First-trimester ductus venosus velocimetry in relation to nuchal translucency thickness and fetal karyotype. Fetal Diagn Ther 2002 17 52-57 (Pubitemid 34102562)
23. Haak M C., Twisk J W., Bartelings M M., Gittenberger-de Groot A C., van Vugt J M. Ductus venosus flow velocities in relation to the cardiac defects in first-trimester fetuses with enlarged nuchal translucency. Am J Obstet Gynecol 2003 188 727-733 (Pubitemid 36332441)
24. Favre R, Cherif Y, Kohler M et al. The role of fetal nuchal translucency and ductus venosus Doppler at 11-14 weeks of gestation in the detection of major congenital heart defects. Ultrasound Obstet Gynecol 2003 21 239-243 (Pubitemid 36390708)
25. Toyama J M., Brizot M L., Liao A W. et al. Ductus venosus blood flow assessment at 11 to 14 weeks of gestation and fetal outcome. Ultrasound Obstet Gynecol 2004 23 341-345 (Pubitemid 38530298)
26. Maiz N, Plasencia W, Dagklis T, Faros E, Nicolaides K. Ductus venosus Doppler in fetuses with cardiac defects and increased nuchal translucency thickness. Ultrasound Obstet Gynecol 2008 31 256-260
27. Zhou Q C., Zhang J, Zhang M, Peng Q H., Cao D M., Wang X Y. Utilising ductus venosus Doppler waveform and four-chamber view to screen for foetal cardiac malformation in early second trimester of pregnancy. Chin Med J (Engl) 2005 118 1791-1796 (Pubitemid 41645496)
28. McAuliffe F M., Trines J, Nield L E., Chitayat D, Jaeggi E, Hornberger L K. Early fetal echocardiographya reliable prenatal diagnosis tool. Am J Obstet Gynecol 2005 193 3 Pt 2 1253-1259 (Pubitemid 41285529)
29. Oh C, Harman C, Baschat A A. Abnormal first-trimester ductus venosus blood flow: a risk factor for adverse outcome in fetuses with normal nuchal translucency. Ultrasound Obstet Gynecol 2007 30 192-196 (Pubitemid 47266023)
30. 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 (Pubitemid 37542168)
31. Makrydimas G, Sotiriadis A, Huggon I C. et al. Nuchal translucency and fetal cardiac defects: a pooled analysis of major fetal echocardiography centers. Am J Obstet Gynecol 2005 192 89-95 (Pubitemid 40164225)
32. Allan L. Prenatal diagnosis of structural cardiac defects. Am J Med Genet C Semin Med Genet 2007 145C 73-76 (Pubitemid 46427655)
33. Huggon I C., Ghi T, Cook A C., Zosmer N, Allan L D., Nicolaides K H. Fetal cardiac abnormalities identified prior to 14 weeks' gestation. Ultrasound Obstet Gynecol 2002 20 22-29 (Pubitemid 34748245)
34. Carvalho J S. Fetal heart scanning in the first trimester. Prenat Diagn 2004 24 1060-1067 (Pubitemid 40053029)
35. Sebire N J., Snijders R J., Davenport M, Greenough A, Nicolaides K H. Fetal nuchal translucency thickness at 10-14 weeks' gestation and congenital diaphragmatic hernia. Obstet Gynecol 1997 90 943-946 (Pubitemid 27510135)
36. Liao A W., Sebire N J., Geerts L, Cicero S, Nicolaides K H. Megacystis at 10-14 weeks of gestation: chromosomal defects and outcome according to bladder length. Ultrasound Obstet Gynecol 2003 21 338-341 (Pubitemid 36555110)
37. Bronshtein M, Amit A, Achiron R, Noy I, Blumenfeld Z. The early prenatal sonographic diagnosis of renal agenesis: techniques and possible pitfalls. Prenat Diagn 1994 14 291-297 (Pubitemid 24133827)
38. 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 31 132-135
39. Sepulveda W, Sebire N J., Souka A, Snijders R JM, Nicolaides K H. Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation. Am J Obstet Gynecol 1997 176 316-319 (Pubitemid 27107915)
40. Ngo C, Viot G, Aubry M C. et al. First-trimester ultrasound diagnosis of skeletal dysplasia associated with increased nuchal translucency thickness. Ultrasound Obstet Gynecol 2007 30 221-226 (Pubitemid 47266027)
41. Iskaros J, Jauniaux E, Rodeck C. Outcome of nonimmune hydrops fetalis diagnosed during the first half of pregnancy. Obstet Gynecol 1997 90 321-325 (Pubitemid 27357918)
42. Jauniaux E. Diagnosis and management of early non-immune hydrops fetalis. Prenat Diagn 1997 17 1261-1268 (Review) (Pubitemid 28059698)
43. Malone F D., Canick J A., Ball R H. et al, First- and Second-Trimester Evaluation of Risk (FASTER) Research Consortium. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med 2005 353 2001-2011 (Pubitemid 41609093)
44. Molina F S., Avgidou K, Kagan K O., Poggi S, Nicolaides K H. Cystic hygromas, nuchal edema, and nuchal translucency at 11-14 weeks of gestation. Obstet Gynecol 2006 107 678-683
45. 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 196 271.e1-e4
46. Ville Y. Nuchal translucency in the first trimester of pregnancy: ten years on and still a pain in the neck? Ultrasound Obstet Gynecol 2001 18 5-8 (Pubitemid 32664643)
47. Haak M C., Bartelings M M., Jackson D G., Webb S, van Vugt J M., Gittenberger-de Groot A C. Increased nuchal translucency is associated with jugular lymphatic distension. Hum Reprod 2002 17 1086-1092 (Pubitemid 34411150)
48. Bekker M N., Twisk J W., Bartelings M M., Gittenberger-de Groot A C., van Vugt J M. Temporal relationship between increased nuchal translucency and enlarged jugular lymphatic sac. Obstet Gynecol 2006 108 846-853 (Pubitemid 44498244)
49. Kharrat R, Yamamoto M, Roume J et al. Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness. Prenat Diagn 2006 26 369-372
50. Zamora J, Abraira V, Muriel A, Khan K, Coomarasamy A. Meta-Disc: a software for meta-analysis of test accuracy data. BMC Med Res Methodol 2006 6 31