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Sonographic detection of open spina bifida in the first trimester: review of the literature

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Abstract

In the beginnings, sonographic diagnosis of open spina bifida (OSB) relied on the meticulous scanning of the fetal vertebrae for abnormalities but many defects were missed. After the mid-1980s, however, with the description of the intracranial findings in the second trimester (the “lemon sign” and the “banana sign”), the prenatal diagnosis of OSB was enhanced. In the last 2 decades, there has been widespread uptake of routine ultrasound examination in the first trimester of pregnancy with the purpose of the measurement of fetal crown-rump length to determine gestational age, to screen for trisomy 21 and other aneuploidies, mainly with the nuchal translucency, and for diagnosis of many major abnormalities. Many papers were published focusing on early diagnosis of myelomeningocele (MMC), and the objective of this review is to summarize the different techniques described regarding prenatal diagnosis of OSB in the first trimester of pregnancy.

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References

  1. Tulp NP (1716) Observationes Medicae, 5th edn. Lodewijk Elzevir, Leiden

    Google Scholar 

  2. Campbell S, Pryse-Davies J, Coltart TM, Seller MJ, Singer JD (1975) Ultrasound in the diagnosis of spina bifida. Lancet 1065–1068

  3. Wald NJ, Cuckle H, Brock JH, Peto R, Polani PE, Woodford FP (1977) Maternal serum-alphafetoprotein 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 i:1323–1332

    Google Scholar 

  4. Bianchi D, Crombleholme TM, D’Alton ME, et Malone FD (2010). Chapter 19: Myelomeningocele. Fetol 2nd Ed 151–165

  5. Nicolaides KH, Campbell S, Gabbe SG, Guidetti R (1986) Ultrasound screening for spina bifida: cranial and cerebellar signs. Lancet 2(8498):72–74

    Article  CAS  PubMed  Google Scholar 

  6. Rossi AC, Prefumo F (2013) Accuracy of ultrasonography at 11–14 weeks of gestation for detection of fetal structural anomalies: a systematic review. Obstet Gynecol 122(6):1160–1167

    Article  PubMed  Google Scholar 

  7. Van Mieghem T, Hindryckx A, Van Calsteren K (2015) Early fetal anatomy screening: who, what, when and why? Curr Opin Obstet Gynecol 27(2):143–150

    Article  PubMed  Google Scholar 

  8. Engels AC, Joyeux L, Brantner C, De Keersmaecker B, De Catte L, Baud D, Deprest J, Van Mieghem T (2016) Sonographic detection of central nervous system defects in the first trimester of pregnancy. Prenat Diagn 36(3):266–273

    Article  CAS  PubMed  Google Scholar 

  9. 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(3):249–252

    Article  CAS  PubMed  Google Scholar 

  10. Sebire NJ, Noble PL, Thorpe-Beeston JG, Snijders RJ, Nicolaides KH (1997) Presence of the ‘lemon’ sign in fetuses with spina bifida at the 10-14-week scan. Ultrasound Obstet Gynecol 10(6):403–405

    Article  CAS  PubMed  Google Scholar 

  11. Chen FC, Gerhardt J, Entezami M, Chaoui R, Henrich W (2015) Detection of spina bifida by first trimester screening-results of the prospective multicenter Berlin IT-study. Ultraschall Med. doi:10.1055/s-0034-1399483

  12. Chaoui R, Nicolaides KH (2011) 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 38(6):609–612

    Article  CAS  PubMed  Google Scholar 

  13. Fong KW, Toi A, Okun N, Al-Shami E, Menezes RJ (2011) Retrospective review of diagnostic performance of intracranial translucency in detection of open spina bifida at the 11-13-week scan. Ultrasound Obstet Gynecol 38(6):630–634

    Article  CAS  PubMed  Google Scholar 

  14. Karl K, Kagan KO, Chaoui R (2012) Intra- and interoperator reliability of manual and semi-automated measurements of intracranial translucency. Ultrasound Obstet Gynecol 39(2):164–168

    Article  CAS  PubMed  Google Scholar 

  15. Papastefanou I, Souka AP, Pilalis A, Panagopoulos P, Kassanos D (2011) Fetal intracranial translucency and cisterna magna at 11 to 14 weeks : reference ranges and correlation with chromosomal abnormalities. Prenat Diagn 31(12):1189–1192

    Article  CAS  PubMed  Google Scholar 

  16. Egle D, Strobl I, Weiskopf-Schwendinger V, Grubinger E, Kraxner F, Mutz-Dehbalaie IS, Strasak A, Scheier M (2011) Appearance of the fetal posterior fossa at 11 + 3 to 13 + 6 gestational weeks on transabdominal ultrasound examination. Ultrasound Obstet Gynecol 38(6):620–624

    Article  CAS  PubMed  Google Scholar 

  17. Mangione R, Dhombres F, Lelong N, Amat S, Atoub F, Friszer S, Khoshnood B, Jouannic JM (2013) Screening for fetal spina bifida at the 11-13-week scan using three anatomical features of the posterior brain. Ultrasound Obstet Gynecol 42(4):416–420

    CAS  PubMed  Google Scholar 

  18. Fong KW, Dengler J, Toi A, Menezes RJ, Karimzad Y, Okun N (2014) Prospective study of intracranial translucency and the posterior brain in normal fetuses at the 11- to 13-week scan. J Ultrasound Med 33(8):1373–1379

    Article  PubMed  Google Scholar 

  19. Kappou D, Papastefanou I, Pilalis A, Kavalakis I, Kassanos D, Souka AP (2015) Towards detecting open spina bifida in the first trimester: the examination of the posterior brain. Fetal Diagn Ther 37(4):294–300

    Article  PubMed  Google Scholar 

  20. Orlandi E, Rossi C, Perino A, Cucinella G, Orlandi F (2016) Prospective sonographic detection of spina bifida at 11-14 weeks and systematic literature review. J Matern Fetal Neonatal Med 29(14):2363–2367

    PubMed  Google Scholar 

  21. Garcia-Posada R, Eixarch E, Sanz M, Puerto B, Figueras F, Borrell A (2013) Cisterna magna width at 11-13 weeks in the detection of posterior fossa anomalies. Ultrasound Obstet Gynecol 41(5):515–520

    Article  CAS  PubMed  Google Scholar 

  22. Lachmann R, Chaoui R, Moratalla J, Picciarelli G, Nicolaides KH (2011) Posterior brain in fetuses with open spina bifida at 11 to 13 weeks. Prenat Diagn 31(1):103–106

    Article  PubMed  Google Scholar 

  23. Iuculano A, Zoppi MA, Piras A, Arras M, Monni G (2014) Brain stem/brain stem occipital bone ratio and the four-line view in nuchal translucency images of fetuses with open spina bifida. J Matern Fetal Neonatal Med 1–4

  24. Lachmann R, Picciarelli G, Moratalla J et al (2010) Frontomaxillary facial angle in fetuses with spina bifida at 11–13 weeks’ gestation. Ultrasound Obstet Gynecol 36(3):268–271

    Article  CAS  PubMed  Google Scholar 

  25. Simon EG, Arthuis CJ, Haddad G, Bertrand P, Perrotin F (2015) Biparietal/transverse abdominal diameter ratio ≤ 1: potential marker for open spina bifida at 11–13-week scan. Ultrasound Obstet Gynecol 45(3):267–272

    Article  CAS  PubMed  Google Scholar 

  26. Buisson O, De Keersmaecker B, Senat MV, Bernard JP, Moscoso G, Ville Y (2002) Sonographic diagnosis of spina bifida at 12 weeks: heading towards indirect signs. Ultrasound Obstet Gynecol 19:290–292

    Article  CAS  PubMed  Google Scholar 

  27. Finn M, Sutton D, Atkinson S, Ransome K, Sujenthrian P, Ditcham V, Wakefield P, Meagher S (2011) The aqueduct of Sylvius: a sonographic landmark for neural tube defects in the first trimester. Ultrasound Obstet Gynecol 38:640–645

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Obstetrics Division, Fetal Medicine Unit, Hospital Italiano de Buenos Aires, Potosí 4135, C1199ACI, Buenos Aires, Argentina

    César Meller, Horacio Aiello & Lucas Otaño

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  1. César Meller
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  2. Horacio Aiello
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  3. Lucas Otaño
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Correspondence to César Meller.

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Meller, C., Aiello, H. & Otaño, L. Sonographic detection of open spina bifida in the first trimester: review of the literature. Childs Nerv Syst 33, 1101–1106 (2017). https://doi.org/10.1007/s00381-017-3443-9

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  • DOI: https://doi.org/10.1007/s00381-017-3443-9

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