Facial Cleft



Facial Cleft


Roya Sohaey, MD



DIFFERENTIAL DIAGNOSIS


Common



  • Isolated Cleft Lip, Palate


  • Trisomy 18


  • Trisomy 13


Less Common



  • Holoprosencephaly


  • Amniotic Band Syndrome


ESSENTIAL INFORMATION


Key Differential Diagnosis Issues



  • Routine face views



    • Profile


    • Coronal nose and lip


  • 3D ultrasound technique for fetal face



    • Obtain good 2D profile view



      • Midsagittal


      • Fluid in front of face


    • Perform 3D sweep or 4D acquisition



      • 4D is real time 3D


      • 4D resolution may not be as good as 3D sweep acquisition


    • Soft tissue rendered view



      • Look for intact lip


      • Look at nares and eyes


    • Bone rendered view



      • Look for intact palate


    • Reverse face 3D technique



      • Flip acquired profile view so baby is looking “down”


      • Rendered 3D view looks from “behind the palate”


      • Shadow artifact is decreased


      • May improve detection of soft palate defects and small bony defects


  • “Face predicts the brain”



    • Look carefully at fetal brain if any facial anomaly identified


    • Consider brain MR



      • Midline facial defects associated with midline brain defects


      • Better than ultrasound for subtle abnormalities, such as gray matter heterotopia


  • Isolated cleft palate is often missed



    • Posterior soft tissue defect


    • Fetal MR helpful


    • Sagittal view may be best



      • Fluid in nasal cavity


      • Back of tongue in defect


Helpful Clues for Common Diagnoses



  • Isolated Cleft Lip, Palate



    • Type 1 cleft lip (CL)



      • Unilateral CL


      • No palate defect


      • ± Flattened nares


    • Type 2 CL, cleft palate (CP)



      • 80% of all CL, CP


      • Unilateral CL and CP


      • Associated flat nares


    • Type 3 CL, CP



      • Bilateral CL and CP


      • Premaxillary protrusion on profile view


      • Dysplastic medial anterior palate is mass-like and protrudes anteriorly


      • Severe nose deformity often seen


    • Type 4 CL, CP



      • Midline CL and CP


      • Anterior/mid palate defect


      • Midface hypoplasia


      • Flat dysplastic nose


    • Isolated CP



      • Rare


      • Often involves only posterior soft palate


      • Fetal MR may be best diagnostic test


  • Trisomy 18



    • 15% with CL/CP (type 2)



      • Rarely type 1


    • Other facial anomalies



      • Micrognathia


      • Low set ears


    • Other associated markers/anomalies



      • Cardiac defects (90%)


      • Choroid plexus cysts (50%)


      • Clenched hand & overlapping index finger (50%)


      • Intrauterine growth restriction (50%)


      • Brain anomaly (30%)


      • Omphalocele (20%)


      • Spina bifida (12%)


      • Clubfoot


      • Rockerbottom foot


      • Diaphragmatic hernia


      • Bladder outlet obstruction


  • Trisomy 13



    • 50% with facial anomalies



      • Type 3 or 4 CL/CP


      • Cyclopia


      • Hypotelorism


      • Proboscis



    • Other associated markers/anomalies



      • Holoprosencephaly (40%)


      • Postaxial polydactyly (75%)


      • Cardiac defects (80%)


      • Intracardiac echogenic focus


      • Cystic kidneys (50%)


      • Omphalocele


      • Intrauterine growth restriction (50%)


Helpful Clues for Less Common Diagnoses

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Aug 10, 2016 | Posted by in OBSTETRICS | Comments Off on Facial Cleft

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