Fetal Face and Neck Flashcards
Anomalies of the face are discovered in what trimester
1st
Fetal face development begins at what week
4
Completion of major facial events happens when
by end of 1st trimester– week 12
What are the 5 main tissue prominences that form the fetal face
frontonasal lateral nasal medial nasal maxillary mandibular
What does the frontonasal tissue prominence form
forehead
dorsum apex of nose
What does the lateral nasal tissue prominence form
nasal ala
What does the medial nasal tissue prominence form
nasal septum
What does the maxillary tissue prominence form
upper cheeks
upper lip
What does the mandibular tissue prominence form
lower cheek
lower lip
chin
What are anomalies of the forehead?
frontal angle
encephalocele
proboscis
What are anomalies of the eyes?
hypotelorism
hypertelorism
What are anomalies of the nose?
hypoplasia
absent nasal bone
What are anomalies of the mouth?
cleft lip
cleft palate
macroglossia
What are anomalies of the chin?
micrognathia
retrognathia
agnathia
What are anomalies of the ear?
low set
What is the protocol for the measurement of the fetal facial angle?
gestational period 11-13wk 6d
magnify image for head and thorax occupy whole image
facial angle should be measured (another question on how)
if facial angle is increased, the risk of triploidy is increased
How should the facial angle be measured?
between a line along the upper surface of the palate and a line along the upper corner of the anterior aspect of the maxilla extending to the external surface of the forehead, represented by frontal bones
Encephalocele:
abnormal protrusion of the brain and/or meninges through a defect in skull or calvarium
associated with hypertelorism and midline facial clefting
Proboscis:
a trunk like soft tissue appendage situated between orbits
associated with alobar holopresencephaly
Hypotelorism:
small distance between the orbits
decreased inter-orbital diameter
Hypotelorism is associated with what:
alobar holoproscencephaly cyclopia absence of nose proboscis tri13, 18 and 21
Hypertelorism:
increased separation of the orbits
may result from abnormalities that interfere with the normal migration of the eyes from the lateral position to midline in embryonic development
abnormal increase in inter-orbital diameter
associated with anterior encephaloceles
What is seen absent with an increased incidence of trisomy 21?
nasal bone
Cleft lip/palate usually results from failure of
fusion of medial nasal prominences and maxillary prominences
Cleft lip/palate is associated with:
Tri13/18
structural abnormalities including heart and CNS
familial (child before, yourself)
Cleft palate without cleft lip is difficult to diagnosis sonographically. True or false
True
A child will always have both cleft palate and cleft lip. True or false
False– can have cleft lip, palate or both
Macroglossia:
enlarged tongue
may protrude from oral cavity and lack characteristic movement of tongue in relation to jaw
What is macroglossia associated with:
*Beckwith-Wiedemann Syndrome
Tri21
What do we see with Beckwith-Wiedemann Syndrome
macrosomia
macroglossia
omphalocele
renal anomalies
Retrognathia:
posteriorly displaced chin
associated with Tr13 and 18
What are abnormalities of the neck?
increased NT
NF thickening
cystic hygroma
cervical teratoma
Thickened NT measurements in the 1st trimester are associated with:
fetal aneuploidy
cardiac defects
other major malformations
adverse pregnancy
Nuchal fold thickening should not increase _____mm from 15-22wks.
6mm
What is an abnormal NT measurement?
> 3mm
How do we measure the nuchal fold thickening?
outer edge of occipital bone to outer edge of the skin
Cystic Hygroma:
lymphatic malformation
septated fluid collection behind the fetal neck
associated with: turner syndrome, chromosomal abnormalities and cardiac structural abnormalities
What’s the most common tumor in neonates?
Cervical teratoma
What percentage of teratoma’s arise in the neck? Where’s the most common location?
5%
sacrum or coccyx
What are some sonographic appearances of cervical teratoma’s?
cystic/solid components regions of calcifications may involved thyroid gland may impinge on airway, causing trouble swallowing polyhydraminos hyperextension of the neck protrude from mouth
