Sonoembryology and early prenatal diagnosis of neural anomalies

Prenatal Diagnosis

Volumn 29, Issue 4, 2009, Pages 312-325

  Blaas, H G K ^a   Eik Nes, S H ^a  

^a NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

Author keywords

Acrania; Anencephaly; Embryonic and foetal central nervous system; Encephalocele; First trimester anomalies; Foetal ultrasound; Holoprosencephaly; Hydrocephaly; Neural anomalies; Spina bifida

Indexed keywords

ACRANIA; ANATOMY; ANENCEPHALUS; CENTRAL NERVOUS SYSTEM; CENTRAL NERVOUS SYSTEM MALFORMATION; DANDY WALKER SYNDROME; DISEASE MARKER; EARLY DIAGNOSIS; ECHOENCEPHALOGRAPHY; EMBRYO DEVELOPMENT; EMBRYOLOGY; ENCEPHALOCELE; EXENCEPHALY; FIRST TRIMESTER PREGNANCY; HOLOPROSENCEPHALY; HUMAN; HYDROCEPHALUS; MEDICAL LITERATURE; NEURAL TUBE DEFECT; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; SKULL MALFORMATION; SPINA BIFIDA; SPINE MALFORMATION; THREE DIMENSIONAL IMAGING;

ANENCEPHALY; BRAIN; CENTRAL NERVOUS SYSTEM; DANDY-WALKER SYNDROME; ENCEPHALOCELE; FEMALE; GESTATIONAL AGE; HOLOPROSENCEPHALY; HUMANS; HYDROCEPHALUS; NERVOUS SYSTEM MALFORMATIONS; NEURAL TUBE DEFECTS; PREGNANCY; SPINAL DYSRAPHISM; ULTRASONOGRAPHY, PRENATAL;

CEPHALOCHORDATA;

EID: 64849103137     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2170     Document Type: Review

References (90)

1. Achiron R, Achiron A, Lipitz S, Mashiach S, Goldman B. 1994. Holoprosencephaly: alobar. Fetus 4: 7422/9-12.
2. Achiron R, Achiron A, Yagel S. 1993. First trimester transvaginal sonographic diagnosis of Dandy-Walker malformation. J Clin Ultrasound 21: 62-64.
3. Becker R, Mende B, Stiemer B, Entezami M. 2000. Sonographic markers of exencephaly at 9 + 3 weeks of gestation. Ultrasound Obstet Gynecol 16: 582-584.
4. Berg S, Torp H, Blaas H-GK. 2000. Accuracy of in-vitro volume estimation of small structures using three-dimensional ultrasound. Ultrasound Med Biol 26: 425-432.
5. Bernard JP, Suarez B, Rambaud C, Muller F, Ville Y. 1997. Prenatal diagnosis of neural tube defect before 12 weeks' gestation: direct and indirect ultrasonographic semeiology. Ultrasound Obstet Gynecol 10: 406-409.
6. Blaas H-GK. 1999. The embryonic examination. Ultrasound studies on the development of the human embryo. Thesis. National Center for Fetal Medicine, Dept Ob & Gyn Norwegian University of Science and Technology: Trondheim.
7. Blaas H. 2000. Picture of the month. Holoprosencephaly at 10 weeks 2 days (CRL 33 mm). Ultrasound Gynecol Obstet 15: 86-87.
8. Blaas H-G, Eik-Nes SH. 1996. Ultrasound assessment of early brain development. In Ultrasound and Early Pregnancy, Jurkovic D, Jauniaux E (eds). The Parthenon Publishing Group: New York, London; 3-18.
9. Blaas H-G, Eik-Nes SH. 1999a. Das Zentralnervensystem. Die normale Entwicklung und die Entwicklung von Anomalien-Ultraschalldiagnostik in der Frühschwangerschaft. Gynäkologe 32: 181-191.
10. Blaas H-G, Eik-Nes SH. 1999b. First-trimester diagnosis of fetal malformations. In Fetal Medicine: Basic Science and Clinical Practice, Rodeck C, Whittle M (eds). Harcourt Brace: London, Chapter 49.
11. Blaas H-GK, Eik-Nes SH. 2002. The description of the early development of the human central nervous system using two- and threedimensional ultrasound. In The Newborn Brain-Neuroscience and Clinical Applications, Hanson M, Lagercrantz H (eds). Cambridge University Press: Cambridge; 278-288.
12. Blaas H-GK, Eik-Nes SH. 2008. Chapter 4: Ultrasound assessment of normal fetal brain development. In Fetal and Neonatal Neurology and Neurosurgery (4th edn), Levine M, Chervenak F, Whittle M (eds). Churchill Livingstone: London.
13. Blaas H-G, Eik-Nes SH, Berg S, Torp H. 1998a. In-vivo threedimensional ultrasound reconstructions of embryos and early fetuses. Lancet 352: 1182-1186.
14. Blaas H-G, Eik-Nes SH, Bremnes JB. 1998b. Embryonic growth. A longitudinal biometric ultrasound study. Ultrasound Obstet Gynecol 12: 346-354.
15. Blaas H-G, Eik-Nes SH, Kiserud T, Berg S, Angelsen B, Olstad B. 1995a. Three-dimensional imaging of the brain cavities in human embryos. Ultrasound Obstet Gynecol 5: 228-232.
16. Blaas H-G, Eik-Nes SH, Kiserud T, Hellevik LR. 1995b. Early development of the hindbrain: a longitudinal ultrasound study from 7 to 12 weeks of gestation. Ultrasound Obstet Gynecol 5: 151-160.
17. Blaas H-G, Eik-Nes SH, Kiserud T, Hagen CBVD, Smedvig E. 1992. Lissencephaly, type 1. Fetus 2: 7422/1-4.
18. Blaas H-G, Eik-Nes SH, Kiserud T, Hellevik LR. 1994. Early development of the forebrain and midbrain: a longitudinal ultrasound study from 7 to 12 weeks of gestation. Ultrasound Obstet Gynecol 4: 183-192.
19. Blaas H-GK, Eik-Nes SH, Isaksen CV. 2000a. The detection of spina bifida before 10 gestational weeks using 2D- and 3D ultrasound. Ultrasound Obstet Gynecol 16: 25-29.
20. Blaas H-GK, Eik-Nes SH, Vainio T, Isaksen CV. 2000b. Alobar holoprosencephaly at 9 weeks gestational age visualized by twoand three-dimensional ultrasound. Ultrasound Obstet Gynecol 15: 62-65.
21. Blaas H-GK, Eriksson AG, Salvesen KÅ , Isaksen CV, Christensen B, Møllerløkken G, Eik-Nes SH. 2002. Brains and faces in holoprosencephaly: Pre- and postnatal description of 30 cases. Ultrasound Obstet Gynecol 19: 24-38.
22. Blazer S, Zimmer EZ, Gover A, Bronshtein M. 2004. Fetal omphalocele detected early in pregnancy: associated anomalies and outcomes. Radiology 232: 191-195.
23. Blin G, Rabbé A, Ansquer Y, Meghdiche S, Floch-Tudal C, Mandelbrot L. 2005. First-trimester ultrasound diagnosis in a recurrent case of Walker-Warburg syndrome. Ultrasound Gynecol Obstet 26: 297-299.
24. Blumenfeld Z, Siegler E, Broshtein M. 1993. The early diagnosis of neural tube defects. Prenat Diagn 13: 863-871.
25. Bronshtein M, Blumenfeld Z. 1992. Transvaginal sonography- detection of findings suggestive of fetal chromosomal anomalies in the first and early second trimester. Prenat Diagn 12: 587-593.
26. Bronshtein M, Ornoy A. 1991. Acrania: anencephaly resulting from secondary degeneration of a closed neural tube: two cases in the same family. J Clin Ultrasound 19: 230-234.
27. Bronshtein M, Wiener Z. 1991. Early transvaginal sonographic diagnosis of alobar holoprosencephaly. Prenat Diagn 11: 459-462.
28. Bronshtein M, Zimmer EZ, Blazer S. 1998. Isolated large fourth ventricle in early pregnancy-a possible benign transient phenomenon. Prenat Diagn 18: 997-1000.
29. 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.
30. Cafici D, Sepulveda W. 2003. First-trimester echogenic amniotic fluid in the acrania-anencephaly sequence. J Ultrasound Med 22: 1075-1079.
31. Carvalho M, Brizot M, Lopes L, Chiba C, Miyadahira S, Zugaib M. 2002. Detection of fetal structural abnormalities at the 11-14 week ultrasound scan. Prenat Diagn 22: 1-4.
32. Chatzipapas IK, Whitlow BJ, Economides DL. 1999. The 'Mickey Mouse' sign and the diagnosis of anencephaly in early pregnancy. Ultrasound Obstet Gynecol 13: 196-199.
33. Chen M, Lee C, Lam Y, Tang R, Chan B, Wong S, Tse L, Tang M. 2008. Comparison of nuchal and detailed morphology ultrasound examinations in early pregnancy for fetal structural abnormality screening: a randomized controlled trial. Ultrasound Gynecol Obstet 31: 136-146.
34. Coerdt W, Ramsing M, Rehder H. 1994. Embryopathologische Untersuchungen an induzierten und spontanen Abortenb im 1. Schwangerschaftstrimenon. Pathologe 15: 32-39.
35. Copp AJ, Brook FA, Estibeiro JP, Shum ASW, Cockroft DL. 1990. The embryonic development of mammalian neural tube defects. Prog Neurobiol 35: 363-403.
36. Cullen MT, Green J, Whetham J, Salafia C, Gabrielli S, Hobbins J. 1990. Transvaginal ultrasonographic detection of congenital anomalies in the first trimester. Am J Obstet Gynecol 163: 466-476.
37. D'Ottavio G, Meir Y, Rustico M, Pecile V, Fischer-Tamaro L, Conoscenti G, Natale R, Mandruzatto G. 1997. Screening for fetal anomalies by ultrasound at 14 and 21 weeks. Ultrasound Gynecol Obstet 10: 375-380.
38. Gardner E, O'Rahilly R, Prolo D. 1975. The Dandy-Walker and Arnold-Chiari malformations. Arch Neurol 32: 393-407.
39. Gembruch U, Baschat AA, Reusche E, Wallner SJ, Greiwe M. 1995. First trimester diagnosis of holoprosencephaly with a Dandy-Walker malformation by transvaginal ultrasound. J Ultrasound Med 14: 619-622.
40. Gonzales-Gomez F, Salamanca A, Padilla M, Camara M, Sabatel R. 1992. Alobar holoprosencephalic embryo detected via transvaginal sonography. Eur J Obstet Gynecol Reprod Biol 47: 266-270.
41. Hernádi L, Töröcsik M. 1997. Screening for fetal anomalies in the 12th week of pregnancy by transvaginal sonography in an unselected population. Prenat Diagn 17: 753-759.
42. Ickowicz V, Eurin D, Maugey-Laulom B, Didier F, Garel C, Gubler M, Laquerriére A, Avni E. 2006. Meckel-Gruber syndrome: sonography and pathology. Ultrasound Gynecol Obstet 27: 296-300.
43. Kim MS, Jeanty P, Turner C, Benoit B. 2008. Three-dimensional sonographic evaluation of embryonic brain development. J Ultrasound Med 27: 119-124.
44. Laurichesse-Delmas H, Beaufrère AM, Martin A, Kaemmerlen AG, Déchelotte P, Lémery D. 2002. First-trimester features of Fowler syndrome (hydrocephaly-hydrancephaly proliferative vasculopathy). Ultrasound Gynecol Obstet 20: 612-615.
45. Lemire RJ. 1975. Deep cerebral nuclei. In Normal and Abnormal Development of the Human Nervous System, Lemire RJ, Loeser JD, Leich RW, Alvord EC (eds). Harper&Row: Hagerstown, MD.
46. Malinger G, Lev D, Lerman-Sagie T. 2006. Normal and abnormal fetal brain development during the third trimester as demonstrated by neurosonography. Eur J Radiol 57: 226-232.
47. Matsunaga E, Shiota K. 1977. Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases. Teratology 16: 261-272.
48. Nelson LH, King M. 1992. Early diagnosis of holoprosencephaly. J Ultrasound Med 11: 57-59.
49. Nicolaides KH, Azar G, Byrne D, Mansur C, Marks K. 1992. Fetal nuchal translucency: ultrasound screening for chromosomal defect i first trimester of pregnancy. Br Med J 304: 867-869.
50. Nishi T, Nakano R. 1994. First-trimester diagnosis of exencephaly by transvaginal ultrasonography. J Ultrasound Med 13: 149-151.
51. Nyberg DA, Mack LA, Bronstein A, Hirsch J, Pagon RA. 1987. Holoprosencephaly: Prenatal sonographic diagnosis. Am J Roentgenol 149: 1051-1058.
52. O'Rahilly R, Müller F. 1987. Developmental Stages in Human Embryos. Carneg Instn Publ: Washington, DC.
53. O'Rahilly R, Müller F. 1994. The Embryonic Human Brain. An Atlas of Developmental Stages. Wiley-Liss: New York.
54. O'Rahilly R, Müller F. 2006. The Embryonic Human Brain. An Atlas of Developmental Stages. John Wiley and Sons, Hoboken, NJ.
55. Pajkrt E, Van Lith J, Mol B, Bleker O, Bilardo C. 1998. Screening for Down's syndrome by fetal nuchal translucency measurement in a general obstetric population. Ultrasound Gynecol Obstet 12: 163-169.
56. Parant O, Sarramon MF, Delisle MB, Fournié A. 1997. Antenatal diagnosis of holoprosencephaly. A series of twelve cases. J Gynecol Obstet Biol Reprod (Paris) 26: 687-696.
57. Pilu G, Ambrosetto P, Sandri F, Tani G, Perolo A, Grisiola G, Ancora G. 1994. Intraventricular fused fornices: a specific sign of fetal lobar holoprosencephaly. Ultrasound Obstet Gynecol 4: 65-67.
58. Pilu G, Sandri F, Perolo A, Pittalis M, Grisiola G, Cocchi G, Foschini M, Salviolio G, Bovicelli L. 1993. Sonography of fetal agenesis of the corpus callosum: a survey of 35 cases. Ultrasound Gynecol Obstet 3: 318-329.
59. Pilu G, Segata M, Ghi T, Carletti A, Perolo A, Santini D, Bonasoni P, Tani G, Rizzo N. 2006. Diagnosis of midline anomalies of the fetal brain with the three-dimensional median view. Ultrasound Obstet Gynecol 27: 522-529.
60. Robinson AJ, Blaser S, Toi A, Chitayat D, Halliday W, Pantazi S, Gundogan M, Laughlin S, Ryan G. 2007. Ther fetal cerebellar vermis. Ultrasound Q 23: 211-223.
61. Rottem S, Bronshtein M, Thaler I, Brandes JM. 1989. First trimester transvaginal sonographic diagnosis of fetal anomalies. Lancet 1: 444-445.
62. Saltvedt S, Almström H, Kublickas M, Valentin L, Grunewald C. 2006. Detection of malformations in chromosomally normal fetuses by routine ultrasound at 12 or 18 weeks of gestation-a randomized controlled trial in 39572 pregnancies. Br J Obstet Gynaecol 113: 664-674.
63. Schmidt W, Kubli F. 1982. Early diagnosis of severe congenital malformations by ultrasonography. J Perinat Med 10: 233-241.
64. Sebire NJ, Noble PL, Thorpe-Beeston JG, Snijders RJM, Nikoaides KH. 1997. Presence of the 'lemon' sign in fetuses with spina bifida at the 10-14-week scan. Ultrasound Obstet Gynecol 10: 403-405.
65. Sepulveda W, Dezerega V, Be C. 2004. First-trimester sonographic diagnosis of holoprosencephaly: value of the "butterfly" sign. J Ultrasound Med 23: 761-765.
66. Sepulveda W, Lutz I, Be C. 2007. Holoprosencephaly at 9 weeks 6 days in a triploid fetus. J Ultrasound Med 26: 411-414.
67. Sepulveda W, Sebire NJ, Fung TY, Pipi E, Nicolaides K. 1997. Crown-chin length in normal and anecephalic fetuses at 10 to 14 weeks' gestation. Am J Obstet Gynecol 176: 852-855.
68. Siebert JR, Kokich VG, Beckwith JB, Cohen MM Jr, Lemire RJ, Tolmie JL. 1981. The facial features of holoprosencephaly in anencephalic human specimens. II. Craniofacial anatomy. Teratology 23: 305-315.
69. Souka A, Krampl E, Bakalis S, Heath V, Nicolaides K. 2001. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 18: 9-17.
70. Souka AP, Nikolaides KH. 1997. Diagnosis of fetal abnormalities at the 10-14-week scan. Ultrasound Obstet Gynecol 10: 429-442.
71. Souka A, Snijders R, Novakov A, Soares W, Nicolaides K. 1998. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks gestation. Ultrasound Obstet Gynecol 11: 391-400.
72. Ta ipal e P , Ämmälä M, Salonen R, Hiilesmaa V. 2003. Learning curve in ultrasonographic screening for selected fetal structural anomalies in early pregnancy. Obstet Gynecol 101: 273-278.
73. Takeuchi H. 1994. Sonoembryology in the central nervous system. In The Fetus as a Patient. Advances in Diagnosis and Therapy, Kurjak A, Chervenak FA (eds). Parthenon Publishing: New York; 141-150.
74. Tanaka H, Senoh D, Hata T. 2000. Intrauterine sonographic measurement of embryonic brain vesicle. Hum Reprod 15: 1407-1412.
75. Timor-Tritsch I, Greenebaum E, Monteagudo A, Baxi L. 1996. Exencephaly-anencephaly sequence: proof by ultrasound imaging and amniotic fluid cytology. J Matern Fetal Med 5: 182-185.
76. Timor-Tritsch IE, Farine D, Rosen MG. 1988. A close look at the embryonic development with the high frequency transvaginal transducer. Am J Obstet Gynecol 159: 678-681.
77. Timor-Tritsch IE, Monteagudo A. 1991. Transvaginal sonographic evaluation of the fetal central nervous system. Obstet Gynecol Clin North Am 18: 713-748.
78. Timor-Tritsch IE, Monteagudo A, Santos R. 2008. Three-dimensional inversion rendering in the first- and early second-trimester fetal brain: its use in holoprosencephaly. Ultrasound Obstet Gynecol 32: 744-750.
79. Timor-Tritsch IE, Peisner DB, Raju S. 1990. Sonoembryology: an organ-oriented approach using a high-frequency vaginal probe. J Clin Ultrasound 18: 286-298.
80. Turner C, Silva S, Jeanty P. 1999. Prenatal diagnosis of alobar holoprosencephaly at 10 weeks of gestation. Ultrasound Obstet Gynecol 13: 360-362.
81. Tóth Z, Csécsei K, Szeifert G, Török O, Papp Z. 1986. Early prenatal diagnosis of cyclopia associated with holoprosencephaly. J Clin Ultrasound 14: 550-553.
82. Warren WB, Timor-Tritsch IE, Peisner DB, Raju S, Rosen MG. 1989. Dating the pregnancy by sequential appearance of embryonic structures. Am J Obstet Gynecol 161: 747-753.
83. Weinstein BJ, Benacerraf BR. 1994. Meckel syndrome, first trimester diagnosis. Fetus 4(5): 7598/4.
84. Westergaard E. 1971. The lateral cerebral ventricles of human foetuses with a crown-rump length of 26-178 mm. Acta Anat 79: 409-421.
85. Whitlow B, Chatzipapas I, Lazanakis M, Kadir R, Economides D. 1999. The value of sonography in early pregnancy for the detection of fetal abnormalities in an unselected population. Br J Obstet Gynaecol 106: 929-936.
86. Wong HS, Lam YH, Tang MHY, Cheung LWK, Ng LKL, Yan KW. 1999. First-trimester ultrasound diagnosis of holoprosencephaly: three case reports. Ultrasound Obstet Gynecol 13: 356-359.
87. Wood LR, Smith MT. 1984. Generation of anencephaly: 1. Aberrant neurulation and 2. conversion of exencephaly to anencephaly. J Neuropathol Exp Neurol 43: 620-633.
88. Zalen-Sprock RMV, Vugt JMGV, Geijn HPV. 1996. First-trimester sonographic detection of neurodevelopmental abnormalities in some single-gene disorders. Prenat Diagn 16: 199-202.
89. Zalen-Sprock RMV, Vugt JMGV, Harten HJVD, Geijn HPV. 1992. Cephalocele and cystic hygroma: diagnosis and differentiation in the first trimester of pregnancy with transvaginal sonography. Report of two cases. Ultrasound Obstet Gynecol 2: 289-292.
90. Zalen-Sprock RV, Vugt JMGV, Harten HJVD, Nieuwint AWM, Geijn HPV. 1995. First trimester diagnosis of cyclopia and holoprosencephaly. J Ultrasound Med 14: 631-633.