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Prenatal diagnosis of fetal cervicofacial anomalies

MacArthur, Carol J.

Current Opinion in Otolaryngology & Head and Neck Surgery: December 2012 - Volume 20 - Issue 6 - p 482–490
doi: 10.1097/MOO.0b013e3283582e21

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.

Oregon Health and Science University, Portland, Oregon, USA

Correspondence to Carol J. MacArthur, MD, Associate Professor, Otolaryngology, Head and Neck Surgery, Oregon Health & Science University, 3181 SW Sam Jackson Park Road, PV-01, Portland, OR 97239, USA. Tel: +1 503 494 5350; e-mail:

© 2012 Lippincott Williams & Wilkins, Inc.