Chapter 25 - Fetal Face & Neck
What are the sonographic findings of Cystic Hygroma?
1. Cystic neck mass divided in the midline by a thick fibrous band of tissue 2. The mass may contain small cystic areas with internal septations.
When is the Nuchal Translucency measurement taken?
11 to 13 wks 6 days.
At what week does the palate typically close?
12 weeks
What nuchal fold measurement would be considered abnormal?
6mm or larger.
What is Micrognathia?
A small mandible and recessed chin
What is a Cystic Hygroma?
Abnormal accumulation of lymphatic tissue within the soft tissue. Most common location is within the neck. can also be seen in axilla
What is Anopthalmia?
Absence of the eyes
What is Hypertelorism?
An increased distance between orbits
What is the most common cause of Hypertelorism?
Anterior Cephalocele
What is Macroglossia commonly associated with?
Beckwith-Wiedemann syndrome and Down Syndrome (Trisomy 21)
What is a Thyroglossal Duct Cyst?
Benign congenital cysts located within the midline of the neck superior to the thyroid gland and near the hyoid bone.
What is a Branchial Cleft Cyst?
Benign congenital neck cysts found most often near the angle of the mandible
What is Cebocephaly?
Close set eyes and a nose with a single nostril
What can a fetal neck mass cause?
Compression of the trachea and esophagus. Can cause fetal swallowing to be inhibited, thus resulting in polyhydramnios.
What are the facial abnormalities linked with Holoprosencephaly?
Cyclopia Ethmocephaly Cebocephaly Median cleft lip with or without cleft palate
What is Micropthalmia?
Decreased in orbit size
There is a notable link between the absence of the fetal nasal bone and what?
Down Syndrome
What can Macroglossia be easily mistaken for?
Epignathus
Whenever any form of Holoprosencephaly is suspected, what else should the sonographer take a look at?
Facial features because facial abnormalities are often present with this brain abnormality
What is the most common cause of Hypotelorism?
Holoprosencephaly with Trisomy 13
What is the Binoculor diameter?
Includes both of the orbits. Lateral margin of one orbit to the lateral margin of the other.
What is the Interocular diameter?
Length between the orbits, this distance should be slightly larger than the Occular Diameter
What is the Occular Diameter?
Measurement obtained from the lateral wall of the orbit to the media wall of the same orbit
What should you be careful not to confuse Cystic Hygroma with?
Nuchal translucency
What are the three fetal orbital measurements?
Occular diameter Interocular diameter Binocular diameter
What is an Epignathus?
Solid appearing oral teratoma
What is a Fetal Goiter?
The diffuse enlargement of the fetal thyroid gland.
What is Micrognathia associated with?
Trisomy 13 & 18
What is Anopthalmia associated with?
Trisomy 13 and 18
What syndromes have Cystic Hygromas been found with?
Turner syndrome Fetal hydrops Aneuploidy Trisomy 21 Trisomy 18 Trisomy 13
When is the Nuchal fold measurement taken?
between 15 and 21 weeks
What is Macroglossia?
enlarged tongue
What is Microtia?
small ears.
At what week does the lip typically close?
7 and 8 weeks
What is Ethmocephaly?
A condition in which there is no nose and a proboscis separating two close set orbits
What is Hypotelorism?
A reduction in the distance between the eyes
What are some other possible solid or complex appearing fetal neck masses?
Lymphangioma Hemangioma Cervical Teratoma Branchial cleft cyst Thyroglossal duct cyst
What is the cause of a Fetal Goiter?
Overtreatment of maternal: Graves disease, Iodine deficiency, Hypothyroidism
How is the Nuchal Fold measured?
Starting in the axial plane at the level of the CSP and angling coronally to include cerebellum and occipital bone. The calipers are placed from the outer edge of the occipital bone to the outer edge of the skin.
What anomalies are associated with low set ears?
Trisomy 13, 18 and 21
What are the three classifications for cleft lip?
Unilateral Bilateral midline
