Normal fetal face and neck

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Normal fetal face and neck Maria A. Calvo-Garcia, MD. Associate Professor of Radiology Cincinnati Children s Hospital Medical Center Cincinnati, Ohio

Disclosure I have no disclosures

Goals & objectives Become familiar with the anatomic assessment of the fetal face / neck Refresh some basic Embryology Understand frequent associations of malformations Guide search patterns

Background on facial abnormalities Important themselves May also indicate an underlying problem Chromosome abnormality Syndromic conditions

Background on facial abnormalities Assessment of the face is always included in all standard fetal anatomic surveys If you found other anomalies recheck the face And conversely, if you see facial anomalies look for other systemic defects

US facial survey 2D US: Images of the fetal face can be accomplished in coronal,sagittal and axial planes

US facial survey 2D US: Images of the fetal face can be accomplished in coronal,sagittal and axial planes

US facial survey 2D US: Images of the fetal face can be accomplished in coronal,sagittal and axial planes

US facial survey Auricles Position Shape Size (subjective / normograms for fetal ear dimensions

US facial / neck survey

US facial survey

US facial survey

US facial and neck survey Fetal MRI frequently in search for additional information CNS Airway Helping in challenging cases Help counseling / planning delivery / neonatal treatment

Evaluation of the orbits

Fetal MRI assessment Bony orbits IOD / BOD 32w GA fetus

Fetal MRI assessment Bony orbits IOD / BOD 32w GA fetus

Fetal MRI assessment Bony orbits IOD / BOD Intraorbital content Globe (OD) Lens 32w GA fetus

Evaluation of the orbits Evaluation of the ears

Fetal MRI assessment Sagittal image of the auricle on SSFP sequence Sagittal image of the auricle on SSFP sequence. (29 weeks gestation) auricles, external auditory canals, fluid filled middle ear and inner ear structures (29 weeks gestation) A

Fetal MRI assessment Absent bilateral auricles (anotia) + External Auditory Canals (aural atresia) Normal bilateral ears + External Auditory Canals

Evaluation of the orbits Evaluation of the ears Evaluation of the mid / lower face

Basic Embryology 1 st and 2 nd branchial arches are involved in the development of the ear (1 st arch also in the face) Hypoplasias and abnormal development Otomandibular dysplasias (AKA branchial arch syndromes)

Basic Embryology The face results from the development of five buds (frontonasal process and 1 st branchial arch. Frontonasal process 1 st branchial arch If the processes do not mold together: facial cleft, at that boundary

Basic Embryology The ear starts forming in the lower neck (6 th week). With the development of the mandible, the ears ascend

Basic Embryology Mandibular hypoplasia would lead to impaired ascent (Ear malposition): Micrognathia + Low set - ears

Mandibular index calculation Paladini D, et al Obstet Gynecol 1999 93:382 386 : AP mandible length / BPD x100 ( 21% or < is significant micrognathia) index: AP mandible length/ BPDx100= if <21% is significant micrognathia

Mandibular index calculation Paladini D, et al Obstet Gynecol 1999 93:382 386: jaw index: AP mandible length/ BPDx100= if <21% is significant micrognathia

Normal anatomy

Normal anatomy Facial cleft

Normal anatomy Cleft palate, intact lip

Evaluation of the orbits Evaluation of the ears Evaluation of the mid / lower face Evaluation of the airway

Fetal MRI assessment

Cervical teratoma

LT Choanal atresia CHARGE association Nasopharyngeal mass Congenital salivary gland anlage tumor

Anatomic Search Pattern in the presence of a facial anomaly Look for other facial defects: Orbital Clefts Hypoplasias [face, ear, eyes], (branchial arch syndrome?) Look for brain malformations Other systemic malformations? (Genetic / chromosomal?) Airway

Thank You! maria.calvo@cchmc.org