Prenatal diagnosis of fetal cervicofacial anomalies

Research output: Contribution to journalReview articlepeer-review

17 Scopus citations


Purpose of review: To review the current literature on prenatal diagnosis of cervicofacial anomalies that may require neonatal intervention or that require prenatal counseling by a maternal-fetal medicine team and otolaryngology, head and neck surgery. Recent findings: Ultrasound and MRI imaging are complementary in the prenatal diagnosis of fetal anomalies that may present with the need for the head and neck surgeon to assist with airway management at delivery or that require prenatal counseling. Team approaches to delivery of at-risk infants have improved and there is more experience with the ex-utero intrapartum treatment (EXIT) procedure. The importance of planning and simulation for EXIT is essential prior to delivery. Future directions include in-utero gene therapy and fetal surgery. Summary: Advances in detection and treatment of fetuses at risk for airway obstruction at birth and for accurate diagnosis of facial clefting will allow teams to continue to improve outcomes for these infants. Increased experience of such teams will allow refinement of protocols and indices for decision making regarding which fetuses will need treatment on placental support and which will do well with traditional delivery with treatment teams on standby. This will allow improved risk profiles for both mother and child.

Original languageEnglish (US)
Pages (from-to)482-490
Number of pages9
JournalCurrent Opinion in Otolaryngology and Head and Neck Surgery
Issue number6
StatePublished - Dec 2012


  • Cleft palate
  • ex-utero intrapartum treatment procedure
  • fetal airway obstruction
  • giant fetal neck masses
  • micrognathia

ASJC Scopus subject areas

  • Surgery
  • Otorhinolaryngology


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