Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review

Prenat Diagn. 2020 Apr;40(5):612-617. doi: 10.1002/pd.5654. Epub 2020 Feb 12.


Objectives: To determine the frequency of genetic and additional structural abnormalities as well as pregnancy outcomes in fetuses with prenatally diagnosed cephalocele.

Methods: A retrospective analysis of data retrieved from ultrasound examinations and genetic testing in fetuses with cephalocele diagnosed between 2006 and 2018 in a tertiary referral hospital along with a systematic literature search in the PubMed database on fetuses with prenatally diagnosed cephalocele.

Results: Twenty-one out of 36 fetuses were found to have additional structural anomalies (58.3%). In four fetuses, anomalies were consistent with limb-body wall complex, in five with Meckel-Gruber syndrome, and in one with amniotic band syndrome. Genetic abnormalities were present in 11.1% of fetuses (trisomy 6; microdeletion 22q11.21; microduplication 16p13.11; pathogenic variant in gene CC2D2A). Twenty-eight pregnancies were terminated (77.8%; 28/36); two were miscarried (5.6%; 2/36). All six children from pregnancies that continued were liveborn but only two survived the surgery and developed neurological sequence. Overall survival rate was 25% (2/8) with 0% intact survival.

Conclusions: Additional structural anomalies are common in fetuses with cephalocele. A significant number of fetuses have genetic abnormalities, and a detailed genetic testing should be performed in all cases. The prognosis is poor with high mortality rate and 0% intact survival.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Abortion, Induced
  • Abortion, Spontaneous
  • Amniotic Band Syndrome / diagnosis*
  • Amniotic Band Syndrome / genetics
  • Chromosome Deletion
  • Chromosome Duplication
  • Chromosomes, Human, Pair 16
  • Chromosomes, Human, Pair 22
  • Chromosomes, Human, Pair 6
  • Ciliary Motility Disorders / diagnosis*
  • Ciliary Motility Disorders / genetics
  • Cohort Studies
  • Cytoskeletal Proteins / genetics
  • Encephalocele / diagnosis
  • Encephalocele / diagnostic imaging*
  • Encephalocele / genetics
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Perinatal Death
  • Polycystic Kidney Diseases / diagnosis*
  • Polycystic Kidney Diseases / genetics
  • Pregnancy
  • Retinitis Pigmentosa / diagnosis*
  • Retinitis Pigmentosa / genetics
  • Retrospective Studies
  • Trisomy / diagnosis*
  • Trisomy / genetics
  • Ultrasonography, Prenatal


  • CC2D2A protein, human
  • Cytoskeletal Proteins

Supplementary concepts

  • Amniotic Band Sequence
  • Chromosome 22, microdeletion 22 q11
  • Meckel syndrome type 1