Fetal Face and Neck

Question 1

Which planes should the fetal face be evaluated in?

Answer 1

• Sagittal: assessment of fetal profile
• Axial: evaluate orbit and eyes
• Coronal: demonstrate the nose and upper lips and evaluate lens of both eyes

Question 2

*What facial abnormalities have been linked with holoprosencephaly?

Answer 2

• Hypotelorism: decreased distance between eyes
• Cebocephaly: a single nostril w/ proboscis-like nose and hypotelorism
• Ethmocephaly: no nose, a proboscis separating two close set orbits
• Cyclopia: fusion of the orbit
• Cleft lip with or w/o cleft palate

Question 3

What is anophthalmia?

Answer 3

• the absence of the eye(s)

- its linked with chromosomal aberrations, including trisomy 13 and trisomy 18

Question 4

Hypertelorism

Answer 4

• accurately diagnosed utilizing the interocular diameter
• *most common cause of is the existence of an anterior cephalocele that displaces the orbits laterally
• associated with craniosynostosis

Question 5

What is a hypotelorism and its most common cause?

Answer 5

• reduction in the distance between the orbits
• the most common cause is holoprosencephaly, with trisomy 13 being the most frequently associated chromosomal abnormality

Question 6

When does the fetal lip typically close?

Answer 6

-between 7-8 wks

Question 7

When does the palate close?

Answer 7

by 12 wks

Question 8

What does an abnormal closure or incomplete closure of lip and palate result in?

Answer 8

• cleft lip and cleft palate

- may exist together or as isolated findings

Question 9

What are cleft lip and cleft palate associated with?

Answer 9

-holoprosencephaly, trisomy 13, and amniotic band syndrome

Question 10

What are the location variations of cleft lip?

Answer 10

-unilateral, bilateral, or midline

Question 11

What has been shown very effective in discovering defects if cleft lip and palate?

Answer 11

coronal and axial imaging of the face

Question 12

*What is macroglossia?

Answer 12

• defined as an unusual protuberance of the tongue

- commonly associated with Beckwith-Wiedemann syndrome and Down syndrome

Question 13

*What is micrognathia?

Answer 13

• a small mandible and recessed chin, is associated with trisomy 13 and 18
• best visualized in the sagittal view of the fetal face

Question 14

Cystic hygroma

Answer 14

• results in an abnormal accumulation of lymphatic fluid within the soft tissue
• *the most common location is within the neck, although it may be found within the axilla
• shouldn’t be confused with increased nuchal translucency, or nuchal fold thickening

Question 15

What is the sonographic appearance of a cystic hygroma?

Answer 15

• a cystic neck mass divided in the midline by a thick fibrous band of tissue
• mass may contain smaller cystic areas with internal septations

Question 16

What syndromes and chromosomal abnormalities have cystic hygromas been found in?

Answer 16

-Turner’s syndrome, fetal hydrops, aneuploidy, trisomy 21, trisomy 18, and trisomy 13

Question 17

What is a common finding during the 2nd trimester in fetuses w/ Down syndrome?

Answer 17

-nuchal thickening, edema, or redundant skin in the back of the neck

Question 18

How is the nuchal fold measurement done?

Answer 18

• the area posterior to the neck can be measured starting in the axial plane at the level of the cavum septum pellucidum and angling coronally to include the cerebellum and occipital bone
• the calipers are placed from the outer edge of the occipital bone to the outer edge of the skin

Question 19

What is considered abnormal for a nuchal fold??

Answer 19

-6mm or larger

Question 20

When are nuchal fold measurements performed (compared to nuchal translucency)?

Answer 20

• nuchal folds are typically measured anywhere 15 and 19 weeks
• nuchal translucency can be performed earlier and is most accurately measure between 11-14 wks