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Am J Perinatol 2011; 28(2): 117-124
DOI: 10.1055/s-0030-1263302
© Thieme Medical Publishers

Clinical Value of the 11- to 13+6-Week Sonogram for Detection of Congenital Malformations: A Review

Antoni Borrell1 , Julian N. Robinson2 , Joaquin Santolaya-Forgas3
  • 1Prenatal Diagnosis Unit, Institute of Gynecology, Obstetrics and Neonatology, Hospital Clinic, Barcelona, Catalonia, Spain
  • 2Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts
  • 3Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, UMDNJ-Robert Wood Johnson Medical School, New Brunswick, New Jersey
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Publikationsdatum:
10. August 2010 (online)

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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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    PubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    PubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    PubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 11 Nicolaides K H. The 11–13+6 weeks scan. Available at: http://www.fetalmedicine.com/fmf/FMF-English.pdf Accessed 5/3/2010
    PubMedSuche in Google Scholar
  • 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
    Thieme ConnectPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    PubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    PubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 32 Allan L. Prenatal diagnosis of structural cardiac defects.  Am J Med Genet C Semin Med Genet. 2007;  145C 73-76
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 34 Carvalho J S. Fetal heart scanning in the first trimester.  Prenat Diagn. 2004;  24 1060-1067
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 42 Jauniaux E. Diagnosis and management of early non-immune hydrops fetalis.  Prenat Diagn. 1997;  17 1261-1268 (Review)
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    PubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar
  • 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
    CrossrefPubMedSuche in Google Scholar

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