Taiwanese Journal of Obstetrics and Gynecology
Volume 47, Issue 3 , Pages 283-290 , September 2008

Prenatal Diagnosis, Fetal Surgery, Recurrence Risk and Differential Diagnosis of Neural Tube Defects

  • Chih-Ping Chen

      Affiliations

    • Department of Obstetrics and Gynecology, Taipei
    • Medical Research, Mackay Memorial Hospital, Taipei
    • Department of Biotechnology, Asia University, Taichung
    • School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung
    • Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Chih-Ping Chen, Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan

,Accepted 26 June 2008.

References 

  1. Wald NJ , Cuckle H , Brock JH , Peto R , Polani PE , Woodford FP . Maternal serum-alpha-fetoprotein measurement in antenatal screening for anencephaly and spina bifida in early pregnancy. Report of U.K. collaborative study on alpha-fetoprotein in relation to neural-tube defects . Lancet . 1977;1:1323–1332
  2. Milunsky A , Jick SS , Bruell CL , et al.   Predictive values, relative risks, and overall benefits of high and low maternal serum a-fetoprotein screening in singleton pregnancies: new epidemiologic data . Am J Obstet Gynecol . 1989;161:291–297
  3. ACOG educational bulletin  . Maternal serum screening. Number 228, September 1996 (replaces no. 154, April 1991). Committee on Educational Bulletins of the American College of Obstetricians and Gynecologists . Int J Gynaecol Obstet . 1996;55:299–308
  4. ACOG Committee on Practice Bulletins  . ACOG practice bulletin. Clinical management guidelines for obstetrician-gynecologists. Number 44, July 2003. (Replaces Committee Opinion Number 252, March 2001) . Obstet Gynecol . 2003;102:203–213
  5. Reichler A, Hume RF, Drugan A, Bardicef M, Isada NB, Johnson MP, et al. Risk of anomalies as a function of level of elevated maternal serum a-fetoprotein . Am J Obstet Gynecol . 1994;171:1052–1055
  6. Canick JA , Kellner LH , Bombard AT . Prenatal screening for open neural tube defects . Clin Lab Med . 2003;23:385–394
  7. Loft AG , Hogdall E , Larsen SO , Norgaard-Pedersen B . A comparison of amniotic fluid alpha-fetoprotein and acetyl-cholinesterase in the prenatal diagnosis of open neural tube defects and anterior abdominal wall defects . Prenat Diagn . 1993;13:93–109
  8. Watson WJ , Chescheir NC , Katz VL , Seeds JW . The role of ultrasound in evaluation of patients with elevated maternal serum alpha-fetoprotein: a review . Obstet Gynecol . 1991;78:123–128
  9. Harmon JP , Hiett AK , Palmer CG , Golichowski AM . Prenatal ultrasound detection of isolated neural tube defects: is cytogenetic evaluation warranted? . Obstet Gynecol . 1995;86:595–599
  10. Hogge WA , Thiagarajah S , Ferguson JE , Schnatterly PT , Harbert GM . The role of ultrasonography and amniocentesis in the evaluation of pregnancies at risk for neural tube defects . Am J Obstet Gynecol . 1989;161:520–523
  11. Nadel AS , Green JK , Holmes LB , Frigoletto FD , Benacerraf BR . Absence of need for amniocentesis in patients with elevated levels of maternal serum alpha-fetoprotein and normal ultrasonographic examinations . N Engl J Med . 1990;323:557–561
  12. Katz VL , Seeds JW , Albright SG , Lingley LH , Lincoln-Boyea B . Role of ultrasound and informed consent in the evaluation of elevated maternal serum alpha-fetoprotein . Am J Perinatol . 1991;8:73–76
  13. Lennon CA , Gray DL . Sensitivity and specificity of ultra-sound for the detection of neural tube and ventral wall defects in a high-risk population . Obstet Gynecol . 1999;94:562–566
  14. Mandruzzato GP , Fischer-Tamaro L , De Seta F , et al.   Does amniotic fluid alpha-fetoprotein have diagnostic or prognostic value at the time of second midtrimester genetic amniocentesis? . Fetal Diagn Ther . 2002;17:147–152
  15. Norem CT, Schoen EJ, Walton DL, Krieger RC, O'Keefe J, To TT, et al. Routine ultrasonography compared with maternal serum alpha-fetoprotein for neural tube defect screening . Obstet Gynecol . 2005;106:747–752
  16. Dashe JS , Twickler DM , Santos-Ramos R , McIntire DD , Ramus RM . Alpha-fetoprotein detection of neural tube defects and the impact of standard ultrasound . Am J Obstet Gynecol . 2006;195:1623–1628
  17. Kooper AJA, de Bruijn D, van Ravenwaaij-Arts CMA, Faas BH, Creemers JW, Thomas CM, et al. Fetal anomaly scan potentially will replace routine AFAFP assays for the detection of neural tube defects . Prenat Diagn . 2007;27:29–33
  18. Hirose S , Farmer DL , Albanese CT . Fetal surgery for myelomeningocele . Curr Opin Obstet Gynecol . 2001;13:215–522
  19. Sutton LN . Fetal surgery for neural tube defects . Best Pract Res Clin Obstet Gynaecol . 2008;22:175–188
  20. Heffez DS , Aryanpur J , Hutchins GM , Freeman JM . The paralysis associated with myelomeningocele: clinical and experimental data implicating a preventable spinal cord injury . Neurosurgery . 1990;26:987–992
  21. Hutchins GM , Meuli M , Meuli-Simmen C , Jordan MA , Heffez DS , Blakemore KJ . Acquired spinal cord injury in human fetuses with myelomeningocele . Pediatr Pathol Lab Med . 1996;16:701–712
  22. Meuli M , Meuli-Simmen C , Hutchins GM , Seller MJ , Harrison MR , Adzick NS . The spinal cord lesion in human fetuses with myelomeningocele: implications for fetal surgery . J Pediatr Surg . 1997;32:448–452
  23. Drewek MJ , Bruner JP , Whetsell WO , Tulipan N . Quantitative analysis of the toxicity of human amniotic fluid to cultured rat spinal cord . Pediatr Neurosurg . 1997;27:190–193
  24. George TM , Cummings TJ . The immunohistochemical profile of the myelomeningocele placode: is the placode normal? . Pediatr Neurosurg . 2003;39:234–239
  25. Bruner JP , Tulipan N , Paschall RL , et al.   Fetal surgery for myelomeningocele and the incidence of shunt-dependent hydrocephalus . JAMA . 1999;282:1819–1825
  26. Tulipan N , Bruner JB , Hernanz-Schulman M , et al.   Effect of intrauterine myelomeningocele repair on central nervous system structure and function . Pediatr Neurosurg . 1999;31:183–188
  27. Sutton LN , Adzick NS , Bilaniuk LT , Johnson MP , Crombleholme TM , Flake AW . Improvement in hindbrain herniation demonstrated by serial fetal magnetic resonance imaging following fetal surgery for myelomeningocele . JAMA . 1999;282:1826–1831
  28. Tulipan N , Sutton LN , Bruner JP , Cohen BM , Johnson M , Adzick NS . The effect of intrauterine myelomeningocele repair on the incidence of shunt-dependent hydrocephalus . Pediatr Neurosurg . 2003;38:27–33
  29. Johnson MP , Sutton LN , Rintoul N , et al.   Fetal myelomeningocele repair: short-term clinical outcomes . Am J Obstet Gynecol . 2003;189:482–487
  30. Danzer E , Johnson MP , Bebbington M , et al.   Fetal head biometry assessed by fetal magnetic resonance imaging following in utero myelomeningocele repair . Fetal Diagn Ther . 2007;22:1–6
  31. Tubbs RS, Chambers MR, Smyth MD, Bartolucci AA, Bruner JP, Tulipan N, et al. Late gestational intrauterine myelomeningocele repair does not improve lower extremity function . Pediatr Neurosurg . 2003;38:128–132
  32. Holzbeierlein J , Pope JC , Adams MC , Bruner J , Tulipan N , Brock JW . The urodynamic profile of myelodysplasia in childhood with spinal closure during gestation . J Urol . 2000;164:1336–1339
  33. Mazzola CA , Albright AL , Sutton LN , Tuite GF , Hamilton RL , Pollack IF . Dermoid inclusion cysts and early spinal cord tethering after fetal surgery for myelomeningocele . N Engl J Med . 2002;347:256–259
  34. Johnson MP, Gerdes M, Rintoul N, Pasquariello P, Melchionni J, Sutton LN, et al. Maternal-fetal surgery for myelomeningocele: neurodevelopmental outcomes at 2 years of age . Am J Obstet Gynecol . 2006;194:1145–1150
  35. Aitken DA , Crossley JA , Spencer K . Prenatal screening for neural tube defects and aneuploidy . In:  Rimoin DL ,  Connor JM ,  Pyeritz RE ,  Korf BR editor. Emery and Rimoin's Principles and Practice of Medical Genetics . 5th edition. Philadelphia: Elsevier Churchill Livingstone; 2007;p. 636–678
  36. Main DM , Mennuti MT . Neural tube defects: issues in prenatal diagnosis and counselling . Obstet Gynecol . 1986;67:1–16
  37. Stevenson RE, Allen WP, Pai GS, Best R, Seaver LH, Dean J, et al. Decline in prevalence of neural tube defects in a high-risk region of the United States . Pediatrics . 2000;106:677–683
  38. McGahan JP , Pilu G , Nyberg DA . Neural tube defects and the spine . In:  Nyberg DA ,  McGahan JP ,  Pretorius DH ,  Pilu G editor. Diagnostic Imaging of Fetal Anomalies . Philadelphia: Lippincott Williams & Wilkins; 2003;p. 291–334
  39. Altman RP , Randolph JG , Lilly JR . Sacrococcygeal teratoma. The American Academy of Pediatrics Surgical Section Survey - 1973 . J Pediatr Surg . 1974;9:389–398
  40. Chen CP , Shih JC . Prenatal visualization of the vasculature of fetal sacrococcygeal teratoma by three-dimensional color power angiography . Ultrasound Obstet Gynecol . 2002;20:636–637
  41. Chen CP , Shih JC , Huang JK , Wang W , Tzen CY . Second-trimester evaluation of fetal sacrococcygeal teratoma using three-dimensional color Doppler ultrasound and magnetic resonance imaging . Prenat Daign . 2003;23:602–603
  42. Chen CP , Sheu JC , Huang JK , Lin YH , Tzen CY , Wang W . Second-trimester magnetic resonance imaging of fetal sacro-coccygeal teratoma with intrapelvic extension in a co-twin . Prenat Diagn . 2004;24:1015–1017
  43. Chen CP , Wang W , Lin SP , Sheu JC , Tzen CY . Favorable outcome in a fetus with an early-onset extensive cystic hygroma colli and intralesional hemorrhage . Am J Perinatol . 1998;15:601–605
  44. Pearce JM , Griffin D , Campbell S . The differential prenatal diagnosis of cystic hygromata and encephalocele by ultra-sound examination . J Clin Ultrasound . 1985;13:317–320
  45. Bronshtein M , Bar-Hava I , Blumenfeld Z . Early second-trimester sonographic appearance of occipital haemangioma simulating encephalocele . Prenat Diagn . 1992;12:695–698
  46. Sherer DM , Perillo AM , Abramowicz JS . Fetal hemangioma overlying the temporal occipital suture, initially diagnosed by ultrasonography as an encephalocele . J Ultrasound Med . 1993;12:691–693
  47. Winter TC , Mack LA , Cyr DR . Prenatal sonographic diagnosis of scalp edema/cephalohematoma mimicking an encephalocele . AJR Am J Roentgenol . 1993;161:1247–1278
  48. Shahabi S , Busine A . Prenatal diagnosis of an epidermal scalp cyst simulating an encephalocoele . Prenat Diagn . 1998;18:373–377
  49. Mitchell CS . Vertex hemangioma mimicking an encephalocele . J Am Osteopath Assoc . 1999;99:626–627
  50. Tsai PY , Chang CH , Chang FM . Prenatal imaging of the fetal branchial cleft cyst by three-dimensional ultrasound . Prenat Diagn . 2003;23:605–606
  51. Choi SS , Zalzal GH . Branchial anomalies: a review of 52 cases . Laryngoscope . 1995;105:909–913
  52. Suchet IB . Ultrasonography of the fetal neck in the second and third trimesters. Part 3. Anomalies of the anterior and anterolateral nuchal region . Can Assoc Radiol J . 1995;46:426–433
  53. Kang AH , Bruner JP . Cephalocele, anterior fontanelle . The Fetus . 1994;4:5
  54. Benacerraf BR , Nyberg DA . The face and neck . In:  Nyberg DA ,  McGahan JP ,  Pretorius DH ,  Pilu G editor. Diagnostic Imaging of Fetal Anomalies . Philadelphia: Lippincott Williams & Wilkins; 2003;p. 335–379
  55. Gull I, Wolman I, Har-Toov J, Amster R, Schreiber L, Lessing JB, et al. Antenatal sonographic diagnosis of epignathus at 15 weeks of pregnancy . Ultrasound Obstet Gynecol . 1999;13:271–273
  56. Chen CP, Shih JC, Huang JK, Chin DT, Tzen CY, Lin YH, et al. Two- and three-dimensional ultrasound demon-stration of a giant epignathus . Ultrasound Obstet Gynecol . 2003;21:407–409
  57. Azizkhan RG , Haase GM , Applebaum H , et al.   Diagnosis, management, and outcome of cervicofacial teratomas in neonates: a Childrens Cancer Group study . J Pediatr Surg . 1995;30:312–316
  58. Liechty KW , Crombleholme TM , Weiner S , Bernick B , Flake AW , Adzick NS . The ex utero intrapartum treatment procedure for a large fetal neck mass in a twin gestation . Obstet Gynecol . 1999;93:824–825
  59. Ward VM , Langford K , Morrison G . Prenatal diagnosis of airway compromise: EXIT (ex utero intra-partum treatment) and foetal airway surgery . Int J Pediatr Otorhinolaryngol . 2000;53:137–141

PII: S1028-4559(08)60125-4

doi: 10.1016/S1028-4559(08)60125-4

Taiwanese Journal of Obstetrics and Gynecology
Volume 47, Issue 3 , Pages 283-290 , September 2008

Article Tools