Skip to main content

Advertisement

Log in

Fetal cephaloceles: prenatal diagnosis and course of pregnancy in 65 consecutive cases

  • Maternal-Fetal Medicine
  • Published:
Archives of Gynecology and Obstetrics Aims and scope Submit manuscript

Abstract

Purpose

To scrutinize the characteristics of all cases with antenatally established diagnosis of cephalocele in two tertiary referral centers.

Methods

We retrospectively reviewed 65 cases diagnosed with cephaloceles and tabulated sonographic findings and autopsy recordings as well as medical charts of all survivors in terms of clinical outcome.

Results

The case notes of 65 fetuses were available for final analysis. Gestational age (GA) at diagnosis ranged from 10.4 to 38.1 weeks. Of our cohort, 53/65 cases (80%) had occipital protrusions, 10 (15%) were found to have frontal lesions, and another two had parietal cephaloceles. A total of 52 pregnancies were terminated or resulted in intrauterine fetal demise (78%). In 18 cases (11%), the cephalocele was part of underlying syndromic disorders (e.g., Meckel–Gruber syndrome). Thirteen pregnancies were continued until term, out of which all affected individuals were live-born. Neurosurgical intervention was prompted within the first 7 months postnatally.

Conclusions

In general, the outcome of fetuses with cephaloceles is rather poor as four out of five pregnancies were terminated. Postnatal outcome of all survivors in our cohort was rather determined by localization of the cele and more important by the presence and severity of concomitant malformations than the extent of the lesion.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1
Fig. 2

Similar content being viewed by others

References

  1. Cameron M, Moran P (2009) Prenatal screening and diagnosis of neural tube defects. Prenat Diagn 29:402–411

    Article  PubMed  Google Scholar 

  2. Rowland CA, Correa A, Cragan JD, Alverson CJ (2006) Are encephaloceles neural tube defects? Pediatrics 118:916–923

    Article  PubMed  Google Scholar 

  3. Thompson DN (2009) Postnatal management and outcome for neural tube defects including spina bifida and encephalocoeles. Prenat Diagn 29:412–419

    Article  PubMed  Google Scholar 

  4. ten Donkelaar HJ, Bekker M, Renier WO, Hori A, Shiota K (2014) Neurulation and neural tube defects. In: ten Donkelaar HJ (ed) Clinical neuroembryology, 2nd edn. Springer, Heidelberg, pp 165–217

    Google Scholar 

  5. Goldstein RB, LaPidus AS, Filly RA (1991) Fetal cephaloceles: diagnosis with US. Radiology 180:803–808

    Article  CAS  PubMed  Google Scholar 

  6. Blaas HG, Eik-Nes SH (2009) Sonoembryology and early prenatal diagnosis of neural anomalies. Prenat Diagn 29:312–325

  7. Rösing B, Kempe A, Berg C, Kahl P, Knöpfle G, Gembruch U, Geipel A (2008) Orofaciodigital syndrome Type IV (Mohr-Majewski): early prenatal diagnosis in siblings. Ultrasound Obstet Gynecol 31:457–460

    Article  PubMed  Google Scholar 

  8. Graham D, Johnson TR Jr, Winn K, Sanders RC (1982) The role of sonography in the prenatal diagnosis and management of encephalocele. J Ultrasound Med 1:111–115

    Article  CAS  PubMed  Google Scholar 

  9. Simpson DA, David DJ, White J (1984) Cephaloceles: treatment, outcome, and antenatal diagnosis. Neurosurgery 15:14–21

    Article  CAS  PubMed  Google Scholar 

  10. Chervenak FA, Isaacson G, Mahoney MJ, Berkowitz RL, Tortora M, Hobbins JC (1984) Diagnosis and management of fetal cephalocele. Obstet Gynecol 64:86–91

    CAS  PubMed  Google Scholar 

  11. Jeanty P, Shah D, Zaleski W, Ulm J, Fleischer A (1991) Prenatal diagnosis of fetal cephalocele: a sonographic spectrum. Am J Perinatol 8:144–149

    Article  CAS  PubMed  Google Scholar 

  12. Wininger SJ, Donnenfeld AE (1994) Syndromes identified in fetuses with prenatally diagnosed cephaloceles. Prenat Diagn 14:839–843

    Article  CAS  PubMed  Google Scholar 

  13. Budorick NE, Pretorius DH, McGahan JP, Grafe MR, James HE, Slivka J (1995) Cephalocele detection in utero: sonographic and clinical features. Ultrasound Obstet Gynecol 5:77–85

    Article  CAS  PubMed  Google Scholar 

  14. Bannister CM, Russell SA, Rimmer S, Thorne JA, Hellings S (2000) Can prognostic indicators be identified in a fetus with an encephalocele? Eur J Pediatr Surg 10(Suppl 1):20–23

    Article  PubMed  Google Scholar 

  15. Sepulveda W, Wong AE, Andreeva E, Odegova N, Martinez-Ten P, Meagher S (2015) Sonographic spectrum of first-trimester fetal cephalocele: review of 35 cases. Ultrasound Obstet Gynecol 46:29–33

    Article  CAS  PubMed  Google Scholar 

  16. Kasprian GJ, Paldino MJ, Mehollin-Ray AR, Shetty A, Williams JL, Lee W, Cassady CI (2015) Prenatal Imaging of Occipital Encephaloceles. Fetal Diagn Ther 37:241–248

    Article  PubMed  Google Scholar 

  17. Wang M, Wang ZP, Zhang M, Zhao ZT (2014) Maternal passive smoking during pregnancy and neural tube defects in offspring: a meta-analysis. Arch Gynecol Obstet 289:513–521

    Article  PubMed  Google Scholar 

  18. Suarez L, Ramadhani T, Felkner M, Canfield M, Hendricks K (2011) Maternal smoking, passive tobacco smoke, and neural tube defects. Birth Defects Res A Clin Mol Teratol 91:29–33

    Article  CAS  PubMed  Google Scholar 

  19. Cama A, Tortori-Donati P, Piatelli GL, Fondelli MP, Andreussi L (1995) Chiari complex in children—neuroradiological diagnosis, neurosurgical treatment and proposal of a new classification (312 cases). Eur J Pediatr Surg 5(Suppl 1):35–38

    Article  PubMed  Google Scholar 

  20. Cakirer S (2003) Chiari III malformation: varieties of MRI appearances in two patients. Clin Imaging 27:1–4

    Article  CAS  PubMed  Google Scholar 

  21. van Zalen-Sprock RM, van Vugt JM, van Geijn HP (1996) First-trimester sonographic detection of neurodevelopmental abnormalities in some single-gene disorders. Prenat Diagn 16:199–202

    Article  PubMed  Google Scholar 

  22. Basaran A (2011) Diagnosis of occipital meningocele at 10 weeks of gestation and its natural course—imaging of meningoencephalocele in early postembryonic period. Ultraschall Med 32:622–623

    Article  CAS  PubMed  Google Scholar 

  23. Hanley ML, Guzman ER, Vintzileos AM, Leiman S, Doyle A, Shen-Schwarz S (1996) Prenatal ultrasonographic detection of regression of an encephalocele. J Ultrasound Med 15:71–74

    Article  CAS  PubMed  Google Scholar 

  24. Bronshtein M, Zimmer EZ (1991) Transvaginal sonographic follow-up on the formation of fetal cephalocele at 13–19 weeks’ gestation. Obstet Gynecol 78:528–530

    CAS  PubMed  Google Scholar 

  25. Bernard JP, Cuckle HS, Stirnemann JJ, Salomon LJ, Ville Y (2012) Screening for fetal spina bifida by ultrasound examination in the first trimester of pregnancy using fetal biparietal diameter. Am J Obstet Gynecol 207(306):e301–e305

    Google Scholar 

  26. Shahabi S, Busine A (1998) Prenatal diagnosis of an epidermal scalp cyst simulating an encephalocoele. Prenat Diagn 18:373–377

    Article  CAS  PubMed  Google Scholar 

  27. Sherer DM, Perillo AM, Abramowicz JS (1993) Fetal hemangioma overlying the temporal occipital suture, initially diagnosed by ultrasonography as an encephalocele. J Ultrasound Med 12:691–693

    Article  CAS  PubMed  Google Scholar 

  28. Noriega CA, Fleming AD, Bonebrake RG (2001) A false-positive diagnosis of a prenatal encephalocele on transvaginal ultrasonography. J Ultrasound Med 20:925–927

    Article  CAS  PubMed  Google Scholar 

  29. Sepulveda W, Wong AE, Sepulveda S, Corral E (2011) Fetal scalp cyst or small meningocele: differential diagnosis with three-dimensional ultrasound. Fetal Diagn Ther 30:77–80

    Article  PubMed  Google Scholar 

  30. Mittermayer C, Lee A, Brugger PC (2004) Prenatal diagnosis of the Meckel–Gruber syndrome from 11th to 20th gestational week. Ultraschall Med 25:275–279

    Article  CAS  PubMed  Google Scholar 

  31. Ghonge NP, Kanika SS, Poonam B (2011) Familial occipital cephalocele in a fetus at 21 weeks’ gestation: imaging demonstration across 3 generations. J Ultrasound Med 30:1747–1751

    Article  PubMed  Google Scholar 

  32. Tallila J, Salonen R, Kohlschmidt N, Peltonen L, Kestila M (2009) Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? Hum Mutat 30:E813–E830

    Article  PubMed  PubMed Central  Google Scholar 

  33. Yatsenko S, Davis S, Hendrix N et al (2013) Application of chromosomal microarray in the evaluation of abnormal prenatal findings. Clin Genet 84:47–54

    Article  CAS  PubMed  Google Scholar 

  34. Fleming AD, Vintzileos AM, Scorza WE (1991) Prenatal diagnosis of occipital encephalocele with transvaginal sonography. J Ultrasound Med 10:285–286

    Article  CAS  PubMed  Google Scholar 

  35. Lo BW, Kulkarni AV, Rutka JT, Jea A, Drake JM, Lamberti-Pasculli M, Dirks PB, Thabane L (2008) Clinical predictors of developmental outcome in patients with cephaloceles. J Neurosurg Pediatr 2:254–257

    Article  PubMed  Google Scholar 

  36. Docherty JG, Daly JC, Carachi R (1991) Encephaloceles: a review 1971–1990. Eur J Pediatr Surg 1(Suppl 1):11–13

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Jan Weichert.

Ethics declarations

Funding

This study was not funded.

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

This article does not contain any studies with human participants or animals performed by any of the authors. It is a retrospective archive study. The institutional review boards of both the universities of Bonn and Lübeck do not require formal approval for retrospective archive studies; therefore, an ethical approval was not sought.

Informed consent

Informed consent was obtained from all individual participants enrolled in this study.

Author contributions

UG, JW: Protocol/project development. UG, MK, UG, RAF, AK, AG, ChB, JW: Data collection or management. JW, FH, UG: Data analysis. JW, FH, UG: Manuscript writing/editing.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Weichert, J., Hoellen, F., Krapp, M. et al. Fetal cephaloceles: prenatal diagnosis and course of pregnancy in 65 consecutive cases. Arch Gynecol Obstet 296, 455–463 (2017). https://doi.org/10.1007/s00404-017-4424-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00404-017-4424-7

Keywords

Navigation