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DOI: 10.1055/s-0030-1263302
Clinical Value of the 11- to 13+6-Week Sonogram for Detection of Congenital Malformations: A Review
Publikationsverlauf
Publikationsdatum:
10. August 2010 (online)
ABSTRACT
We sought to determine the clinical value of the 11- to 13+6-week ultrasound evaluation for diagnosis of congenital abnormalities. A literature search was conducted for publications concerning the use of the 11- to 13+6-week ultrasound evaluation for prenatal diagnosis of congenital abnormalities. Series with more than 1000 cases published in the English language were selected. The reported data were integrated and a pooled analysis was performed to provide meaningful clinical interpretations. Our analysis of data from 36,237 pregnancies generated by eight centers suggests that the overall detection rate of major congenital anomalies during the 11- to 13+6-week ultrasound evaluation is 29% (95% confidence interval 25 to 33). Prenatal diagnosis at these stages of development could improve if evaluations are implemented in accordance to very well delineated protocols.
KEYWORDS
Prenatal ultrasonography - fetal malformations - fetal anatomy - prenatal diagnosis - first trimester ultrasound
REFERENCES
- 1 D'Ottavio G, Mandruzzato G, Meir Y J et al.. Comparisons of first and second trimester screening for fetal anomalies. Ann N Y Acad Sci. 1998; 847 200-209
- 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
- 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
- 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
- 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
- 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
- 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 gestation—a randomised controlled trial in 39,572 pregnancies. BJOG. 2006; 113 664-674
- 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
- 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 Nicolaides K H. The 11–13+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
- 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
- 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
- 17 Rottem S. IRONFAN—a 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 28 McAuliffe F M, Trines J, Nield L E, Chitayat D, Jaeggi E, Hornberger L K. Early fetal echocardiography—a reliable prenatal diagnosis tool. Am J Obstet Gynecol. 2005; 193 (3 Pt 2) 1253-1259
- 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
- 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
- 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
- 32 Allan L. Prenatal diagnosis of structural cardiac defects. Am J Med Genet C Semin Med Genet. 2007; 145C 73-76
- 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
- 34 Carvalho J S. Fetal heart scanning in the first trimester. Prenat Diagn. 2004; 24 1060-1067
- 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
- 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
- 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
- 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
- 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
- 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
- 42 Jauniaux E. Diagnosis and management of early non-immune hydrops fetalis. Prenat Diagn. 1997; 17 1261-1268 (Review)
- 43 Malone F D, Canick J A, Ball R H First- and Second-Trimester Evaluation of Risk (FASTER) Research Consortium et al. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med. 2005; 353 2001-2011
- 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
- 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
- 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
- 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
Antoni BorrellM.D.
Prenatal Diagnosis Unit. Institute of Gynecology, Obstetrics and Neonatology, Hospital Clinic, Maternitat Campus
Sabino Arana 1, 08028 Barcelona, Catalonia, Spain
eMail: aborrell@clinic.ub.es