Mandibular hypoplasia with cleft palate and glossoptosis (backward and downward displacement of tongue)

Severe micrognathia on midsagittal view in midtrimester

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  1st-trimester diagnosis has been reported

Specifically target palate to look for cleft when micrognathia is seen

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  Classic U shape seen on postnatal evaluation

Polyhydramnios common in 3rd trimester

~ 65% of cases with other anomalies

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  Up to 30% mortality with severe defects

Many syndromes have Pierre Robin sequence as component

Airway obstruction due to glossoptosis may be life threatening

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  Airway protection critical in infants

Usually micrognathia is obvious, but in questionable cases, measure maxilla-nasion-mandible (MNM) angle

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  MNM is angle formed between line from nasal bone attachment at skull to front of maxilla and line from same nasal point to front of mandible

  
  
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  MNM > 95th percentile is consistent with micrognathia

Perform 3D ultrasound to enhance craniofacial evaluation

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  Palate defects seen best with multiplanar views and bone rendered views

Specifically target palate during real-time evaluation

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  Try to obtain view in sagittal plane

  
  
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  Watch tongue and see if it thrusts upward through defect

Careful evaluation of fetal anatomy given significant association with other anomalies and syndromes