Prenatal Identification of Pierre Robin Sequence: A Review of the Literature and Look towards the Future

Abstract

Fetal ultrasonography is an important tool used to prenatally diagnose many craniofacial conditions. Pierre Robin sequence (PRS) is a rare congenital deformation characterized by micrognathia, glossoptosis, and airway obstruction. PRS can present as a perinatal emergency when the retropositioned tongue obstructs the airway leading to respiratory compromise. More predictable and reliable diagnostic studies could help the treating medical team as well as families prepare for these early airway emergencies. The medical literature was reviewed for different techniques used to prenatally diagnose PRS radiologically. We have reviewed these techniques and suggested a possible diagnostic pathway to consistently identify patients with PRS prenatally.

An algorithm for predicting Robin sequence from fetal MRI

“…Identifying the combination of micrognathia, glossoptosis, and cleft secondary palate on fetal MRI portends a postnatal diagnosis of RS; however, the subjective and qualitative nature of glossoptosis and micrognathia limits their usefulness. Development of a prenatal diagnostic algorithm for RS requires further definition and validation of these MRI findings …”

The location of the fetal ears: A hint for prenatal diagnosis of agnathia‐otocephaly complex

“…Micrognathia is the most common sign that can be assessed on a routine first trimester screening US for chromosomal aberrations and is associated with a wide variety of malformations. The differential diagnosis includes chromosomal defects, Treacher Collins syndrome, Goldenhar syndrome, Pierre Robin Sequence as well as facial clefts and severe cleft lip and palate . The clue feature is melotia which is indicative of otocephaly.…”

Airway Management in Neonates with Pierre Robin Syndrome along with Mobius Syndrome and Platoglossal Fusion

“…As much as 60% of patients with PRS may have associated congenital anomalies such as Stickler, Velocardiofacial and Treacher-Collins syndromes. If these syndromes are suspected, especially if a murmur is present, a preoperative echocardiogram should be performed [2,5].…”

“…To relieve this obstruction, two handed jaw thrust along with one of more airway adjuncts may be required. In the unfortunate event of inability to ventilate after induction of anesthesia, emergent bronchoscopy with rigid bronchoscope may be the only option to ventilate a patient if direct laryngoscopy and intubation failed [2,3,5]. Emergency tracheostomy and extracorporeal membrane oxygenation (in patients >2 kg and older than 34 weeks gestational age) can be the last resorts in a pediatric "cannot ventilate, cannot intubate" situation [2,3,5,7].…”

“…Pierre Robin Syndrome (PRS) is a congenital syndrome with multiple anomalies, including micrognathia, receding and short mandible, and cleft lip and/or palate [1][2][3][4][5]. The major challenge for the anesthesiologist in these patients is airway management due to glosssoptosis causing obstructive sleep apnea (OSA).…”