Skip to main content
Top
Published in: Child's Nervous System 7/2017

01-07-2017 | Focus Session

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

Authors: César Meller, Horacio Aiello, Lucas Otaño

Published in: Child's Nervous System | Issue 7/2017

Login to get access

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.
Literature
1.
go back to reference Tulp NP (1716) Observationes Medicae, 5th edn. Lodewijk Elzevir, Leiden Tulp NP (1716) Observationes Medicae, 5th edn. Lodewijk Elzevir, Leiden
2.
go back to reference Campbell S, Pryse-Davies J, Coltart TM, Seller MJ, Singer JD (1975) Ultrasound in the diagnosis of spina bifida. Lancet 1065–1068 Campbell S, Pryse-Davies J, Coltart TM, Seller MJ, Singer JD (1975) Ultrasound in the diagnosis of spina bifida. Lancet 1065–1068
3.
go back to reference 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 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
4.
go back to reference Bianchi D, Crombleholme TM, D’Alton ME, et Malone FD (2010). Chapter 19: Myelomeningocele. Fetol 2nd Ed 151–165 Bianchi D, Crombleholme TM, D’Alton ME, et Malone FD (2010). Chapter 19: Myelomeningocele. Fetol 2nd Ed 151–165
5.
go back to reference Nicolaides KH, Campbell S, Gabbe SG, Guidetti R (1986) Ultrasound screening for spina bifida: cranial and cerebellar signs. Lancet 2(8498):72–74CrossRefPubMed Nicolaides KH, Campbell S, Gabbe SG, Guidetti R (1986) Ultrasound screening for spina bifida: cranial and cerebellar signs. Lancet 2(8498):72–74CrossRefPubMed
6.
go back to reference 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):1160–1167CrossRefPubMed 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):1160–1167CrossRefPubMed
7.
go back to reference Van Mieghem T, Hindryckx A, Van Calsteren K (2015) Early fetal anatomy screening: who, what, when and why? Curr Opin Obstet Gynecol 27(2):143–150CrossRefPubMed Van Mieghem T, Hindryckx A, Van Calsteren K (2015) Early fetal anatomy screening: who, what, when and why? Curr Opin Obstet Gynecol 27(2):143–150CrossRefPubMed
8.
go back to reference 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):266–273CrossRefPubMed 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):266–273CrossRefPubMed
9.
go back to reference 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):249–252CrossRefPubMed 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):249–252CrossRefPubMed
10.
go back to reference 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):403–405CrossRefPubMed 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):403–405CrossRefPubMed
11.
go back to reference 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 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.
go back to reference 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):609–612CrossRefPubMed 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):609–612CrossRefPubMed
13.
go back to reference 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):630–634CrossRefPubMed 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):630–634CrossRefPubMed
14.
go back to reference 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):164–168CrossRefPubMed 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):164–168CrossRefPubMed
15.
go back to reference 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):1189–1192CrossRefPubMed 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):1189–1192CrossRefPubMed
16.
go back to reference 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):620–624CrossRefPubMed 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):620–624CrossRefPubMed
17.
go back to reference 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):416–420PubMed 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):416–420PubMed
18.
go back to reference 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):1373–1379CrossRefPubMed 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):1373–1379CrossRefPubMed
19.
go back to reference 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):294–300CrossRefPubMed 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):294–300CrossRefPubMed
20.
go back to reference 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):2363–2367PubMed 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):2363–2367PubMed
21.
go back to reference 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):515–520CrossRefPubMed 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):515–520CrossRefPubMed
22.
go back to reference 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):103–106CrossRefPubMed 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):103–106CrossRefPubMed
23.
go back to reference 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 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.
go back to reference 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):268–271CrossRefPubMed 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):268–271CrossRefPubMed
25.
go back to reference 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):267–272CrossRefPubMed 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):267–272CrossRefPubMed
26.
go back to reference 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 19:290–292CrossRefPubMed 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 19:290–292CrossRefPubMed
27.
go back to reference 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 38:640–645CrossRefPubMed 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 38:640–645CrossRefPubMed
Metadata
Title
Sonographic detection of open spina bifida in the first trimester: review of the literature
Authors
César Meller
Horacio Aiello
Lucas Otaño
Publication date
01-07-2017
Publisher
Springer Berlin Heidelberg
Published in
Child's Nervous System / Issue 7/2017
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI
https://doi.org/10.1007/s00381-017-3443-9

Other articles of this Issue 7/2017

Child's Nervous System 7/2017 Go to the issue