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Screening for fetal spina bifida by ultrasound examination in the first trimester of pregnancy using fetal biparietal diameter

  • Jean-Pierre Bernard
    Correspondence
    Reprints: Jean-Pierre Bernard, MD, Maternité et médecine materno-foetale, CHU Necker-Enfants Malades, AP-HP, 149, rue de Sèvres 75015 Paris, France
    Affiliations
    Centre Hospitalo-Universitaire (CHU) Necker-Enfants Malades, AP-HP, Université Paris Descartes, and Société Française pour l'Amélioration des Pratiques Echographiques (SFAPE), Paris, France

    Centre européen de diagnostic et d'explorations de la femme (C.E.D.E.F.), Le Chesnay, France
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  • Howard S. Cuckle
    Affiliations
    Columbia University Medical Center, New York, NY
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  • Julien J. Stirnemann
    Affiliations
    Centre Hospitalo-Universitaire (CHU) Necker-Enfants Malades, AP-HP, Université Paris Descartes, and Société Française pour l'Amélioration des Pratiques Echographiques (SFAPE), Paris, France
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  • Laurent J. Salomon
    Affiliations
    Centre Hospitalo-Universitaire (CHU) Necker-Enfants Malades, AP-HP, Université Paris Descartes, and Société Française pour l'Amélioration des Pratiques Echographiques (SFAPE), Paris, France
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  • Yves Ville
    Affiliations
    Centre Hospitalo-Universitaire (CHU) Necker-Enfants Malades, AP-HP, Université Paris Descartes, and Société Française pour l'Amélioration des Pratiques Echographiques (SFAPE), Paris, France
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      Objective

      Prenatal screening for aneuploidies is best achieved in the first trimester when there is no reliable screening test for spina bifida. Early ultrasound features may be too complex for routine screening. We assessed screening potential of simple and reproducible fetal biometric measurements at 11-14 weeks of gestation.

      Study Design

      A total of 34,951 unselected consecutive pregnancies included 18 with spina bifida. Another 28 cases were referred for assessment. Biometric measurements were expressed in multiples of the median for crown-rump length.

      Results

      Biparietal diameter (BPD) was smaller in spina bifida (P < .0001). In all, 22 of 44 (50%) cases with spina bifida aperta had a BPD <5th centile. BPD was independent of maternal adiposity and smoking status.

      Conclusion

      Simple and reproducible BPD at 11-14 weeks of gestation could detect half the cases of open fetal spina bifida by identifying 5% of pregnancies for expert scanning in first- and second-trimester examinations of the fetal spine and cranium.

      Key words

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      References

        • Garne E.
        • Dolk H.
        • Loane M.
        • Boyd P.A.
        EUROCAT website data on prenatal detection rates of congenital anomalies.
        J Med Screen. 2010; 17: 97-98
        • Cuckle H.
        • Wald N.
        • Brock D.
        Screening for neural-tube defects.
        Lancet. 1980; 1: 600
        • Nicolaides K.H.
        • Campbell S.
        • Gabbe S.G.
        • Guidetti R.
        Ultrasound screening for spina bifida: cranial and cerebellar signs.
        Lancet. 1986; 2: 72-74
        • Salomon L.J.
        • Alfirevic Z.
        • Berghella V.
        • et al.
        Practice guidelines for performance of the routine mid-trimester fetal ultrasound scan.
        Ultrasound Obstet Gynecol. 2011; 37: 116-126
        • Buisson O.
        • De Keersmaecker B.
        • Senat M.V.
        • Bernard J.P.
        • Moscoso G.
        • Ville Y.
        Sonographic diagnosis of spina bifida at 12 weeks: heading towards indirect signs.
        Ultrasound Obstet Gynecol. 2002; 19: 290-292
        • Chaoui R.
        • Benoit B.
        • Mitkowska-Wozniak H.
        • Heling K.S.
        • Nicolaides K.H.
        Assessment of intracranial translucency (IT) in the detection of spina bifida at the 11-13-week scan.
        Ultrasound Obstet Gynecol. 2009; 34: 249-252
        • Lachmann R.
        • Picciarelli G.
        • Moratalla J.
        • Greene N.
        • Nicolaides K.H.
        Frontomaxillary facial angle in fetuses with spina bifida at 11-13 weeks' gestation.
        Ultrasound Obstet Gynecol. 2010; 36: 268-271
        • Fong K.W.
        • Toi A.
        • Okun N.
        • Al-Shami E.
        • Menezes R.J.
        Retrospective review of diagnostic performance of intracranial translucency in detection of open spina bifida at the 11-13-week scan.
        Ultrasound Obstet Gynecol. 2011; 38: 630-634
        • Mangione R.
        • Lelong N.
        • Fontanges M.
        • et al.
        Visualization of intracranial translucency at the 11-13-week scan is improved after specific training.
        Ultrasound Obstet Gynecol. 2011; 38: 635-639
        • 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
        • Salomon L.J.
        • Bernard J.P.
        • Duyme M.
        • Dorion A.
        • Ville Y.
        Revisiting first-trimester fetal biometry.
        Ultrasound Obstet Gynecol. 2003; 22: 63-66
        • Wald N.
        • Cuckle H.
        • Boreham J.
        • Stirrat G.
        Small biparietal diameter of fetuses with spina bifida: implications for antenatal screening.
        Br J Obstet Gynaecol. 1980; 87: 219-221
        • Rahim R.R.
        • Cuckle H.S.
        • Sehmi I.K.
        • Jones R.G.
        Ultrasound dating policy in maternal serum screening for Down's syndrome.
        Prenat Diagn. 2002; 22: 1181-1184
        • Cuckle H.
        • Thornton J.
        Antenatal diagnosis and management of neural tube defects.
        in: Levene M.I. Fetal and neonatal neurology and neurosurgery. Churchill Livingstone, London1995: 295-309
        • Perni S.C.
        • Chervenak F.A.
        • Kalish R.B.
        • et al.
        Intraobserver and interobserver reproducibility of fetal biometry.
        Ultrasound Obstet Gynecol. 2004; 24: 654-658
        • Verburg B.O.
        • Mulder P.G.H.
        • Hofman A.
        • Jaddoe V.W.V.
        • Witteman J.C.M.
        • Steegers E.A.P.
        Intra- and interobserver reproducibility study of early fetal growth parameters.
        Prenat Diagn. 2008; 28: 323-331
        • Sunden B.
        On the diagnostic value of ultrasound in obstetrics and gynecology.
        Acta Obstet Gynecol Scand. 1964; 43: 1-191
        • Laurence K.M.
        • Turnbull A.C.
        • Harris R.
        • Jennison R.F.
        • Ruoslahti E.
        • Seppälä M.
        Antenatal diagnosis of spina bifida.
        Lancet. 1973; 2: 860
        • Wald N.J.
        • Cuckle H.
        • Brock J.H.
        • Peto R.
        • Polani P.E.
        • Woodford F.P.
        Maternal serum-alpha-fetoprotein measurement in antenatal screening for anencephaly and spina bifida in early pregnancy: report of UK collaborative study on alpha-fetoprotein in relation to neural-tube defects.
        Lancet. 1977; 1: 1323-1332
        • Boyd P.
        • DeVigan C.
        • Khoshnood B.
        • et al.
        Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome.
        BJOG. 2008; 115: 689-696
        • Sepulveda W.
        • Wong A.E.
        • Fauchon D.E.
        Fetal spinal anomalies in a first-trimester sonographic screening program for aneuploidy.
        Prenat Diagn. 2010; 31: 107-114
        • Salvador J.
        • Arigita M.
        • Carreras E.
        • Lladonosa A.
        • Borell A.
        Evolution of prenatal detection of neural tube defects in pregnant population of the city of Barcelona from 1992 to 2006.
        Prenat Diagn. 2011; 31: 1184-1188
        • Syngelaki A.
        • Chelemen T.
        • Dagklis T.
        • Allan L.
        • Nicolaides K.H.
        Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11-13 weeks.
        Prenat Diagn. 2011; 31: 90-102
        • Finn M.
        • Sutton D.
        • Atkinson S.
        • et al.
        The aqueduct of Sylvius: a sonographic landmark for neural tube defects in the first trimester.
        Ultrasound Obstet Gynecol. 2011; 38: 640-645
        • Egle D.
        • Strobl I.
        • Weiskopf-Schwendinger V.
        • et al.
        Appearance of the fetal posterior fossa at 11 + 3 to 13 + 6 gestational weeks on transabdominal ultrasound examination.
        Ultrasound Obstet Gynecol. 2011; 38: 620-624
        • Chaoui R.
        • Nicolaides K.H.
        Detecting open spina bifida at the 11-13-week scan by assessing intracranial translucency and the posterior brain region: mid-sagittal or axial plane?.
        Ultrasound Obstet Gynecol. 2011; 38: 609-612
        • Cuckle H.
        • Benn P.
        Multianalyte maternal serum screening for chromosomal defects.
        in: Milunsky A. Milunsky J. Genetic disorders and the fetus: diagnosis, prevention and treatment. Johns Hopkins University Press, Baltimore2010: 771-818
        • Bredaki F.E.
        • Poon L.C.
        • Birdir C.
        • Escalante D.
        • Nicolaides K.H.
        First-trimester screening for neural tube defects using alpha-fetoprotein.
        Fetal Diagn Ther. 2012; 31: 109-114
        • Kyle P.M.
        • Harman C.R.
        • Evans J.A.
        • et al.
        Life without amniocentesis: elevated maternal serum alpha-fetoprotein in the Manitoba program 1986-91.
        Ultrasound Obstet Gynecol. 1994; 4: 199-204