Chapter 59: Fetal Face and Neck

the embryo begins forming in the first ___ weeks.

4-10 weeks

face and neck abnormality will occur in how many births?

1:500-700

what is the most common facial abnormality?

cleft lip

___ has been proven to decrease neural tube defects.

folic acid

primitive of the spine; becomes the spine

somites

the neural tube closes ____ then ___ & ____.

posteriorly, superiorly and caudally

pieces of the neural tube fuse and close in on the ___ portion.

anterior

if the neural tube does not close, it is termed a ___.

neural tube defect

embryology of the fetal face includes fusion of 5 prominences =

frontonasal (1), maxillary (2), and mandibular (2)

in embryology of the fetal face, neural crest cells migrate to ___.

arches

the nasal and maxillary prominences fuse ___ to form the upper lip.

medially

the nasal and maxillary prominences fuse medially to form the ___.

upper lip

the mandibular prominences fuse together to form the…

lower lip, jaw, chin, mandible

the mandibular prominences do not form correctly, there is a chance of ___.

micrognathia or the tongue not being correct

the development of the nose, the frontonasal prominences form the ___.

nasal pits to nasal placodes

in the development of the nose, the frontal prominences fuse ___ for form the nasal bridge.

anteriorly

the nasal and maxillary prominences fuse anteriorly to form the ___.

nasal bridge

the medial nasal prominence fuses to form the ____.

crest and tip of the nose

the maxillary prominences fuse to form the __.

midline

fusion of the midline of prominences creates boundaries ___ and ___.

superiorly and caudally

the initial embryonic invagination of ectoderm that forms the primitive mouth and oral cavity in developing embryos

stomodeum

the hard palate sits ____.

anterior

the soft palate sits ___.

posterior

the ___ forms the roof of the mouth.

palate

the fusion of ____ separates the nasal cavity from the mouth.

medial nasal prominence and maxillary prominence

if the fusion of the medial nasal prominence and maxillary prominence doesn’t occur, what occurs?

cleft lip/palate

the ears are developed by ___.

20 weeks

the ears develop by forming and then ___.

ascending into place

if the ears don’t ascend normally, ____.

low set ears

abnormal ears are associated with…

Treacher Collins syndrome, Golden Harr syndrome, Pierre Robin syndrome

sonographic evaluation of the fetal face should be…

focused and closely scrutinized in the sagittal, axial, and coronal planes

forehead protrudes out, nasal bridge depression

frontal bossing

in cases of frontal bossing, if it appears as a lemon shaped head axially, the baby might have a ____.

neural tube defect

brain matter covered by a membrane, protruding out of the skull

encephalocele

encephalocele that protrudes on top of the nasal bridge or tip of the nose

frontal encephalocele

collection of blood

hemangioma

underdeveloped or lack of skull development of structures, potential full or ½ of the face or cranial defects

microsomia

premature fusion of any or all 6 sutures in the brain

craniosynostosis

head appears protruded out in the back, shape of a clover leaf

Cloverleaf (Kleeblattschadel)

front portion of the brain forms triangular due to premature close of the metopic suture

trigonocephaly

if there is concern the head is too small and of brain development, check ___.

to see if the sutures are open

suture that corresponds to the 2 frontal bones

frontal suture

suture that corresponds to separation of the two parietal bones

coronal suture

soft spot on baby’s head so the head/brain can continue to grow after birth

fontanel

small head; HC causes to fall of growth chart

microcephaly

Cloverleaf skull corresponds to ___.

skeletal dysplasia

micronagthia is commonly associated with…

trisomy 18 (Edward’s syndrome), skeletal dysplasia, Pierre-Robin syndrome, Treacher Collins

if micrognathia is severe enough, it can cause…

displace the tongue causing change to ability to swallow

lens of the eye are seen in the ___ portion.

anterior

orbital diameter (OD) should be measured _____.

inner to inner of one orbit

bioribital diameter (BOD) should be measured ____.

from the outer lens of one orbit to the outer of the other orbit

interocular diameter should be measured ___.

from the inner of one orbit to the inner of the other

orbits are too close

hypotelorism

orbits are too far apart

hypertelorism

orbits are absent

anophthalmos

small eyes

microphthalmos

hypoteleorism is associated with…

holoprosencephaly, microcephaly

hypertelorism is associated with…

exposure to seizure meds, microcephaly, cleft lip/palate, frontal cephaloceles

abnormal protrusion of nose/where the nose should be

proboscis

proboscis is associated with…

hypotelorism

if the eyes become too close together and become one orbit, it is called ___.

cyclopia

dilated lacrimal/tear ducts

dacrocystocele

how does a dacrocystocele appear sonographically?

hypoechoic regions, cystic spaces on medial portion of the orbits

when imaging the nose, what needs to be determined?

symmetry, tip of the nose, continuity with the upper lip

determining that the nose has continuity with the upper lip is done to rule out ___.

cleft lip

what are possible associations with cleft lip/palate?

geographic factors, race, family history, sex, exposure to risk factors such as alcohol or tobacco, poor nutrition, viral infections, drugs, presence of teratogens at home or work

in cases of facial clefting, it is important to preserve normal appearance and functionality. functionality including…

feeding and breathing

tongue is too large; protrusion of the tongue through the lips

macroglossia

macroglossia is associated with…

Beckwith-Wiedemann syndrome and down syndrome

mass protruding out of the nose or mouth; a teratoma arising from the naso- or oropharynx

epinagthus

what is a major risk factor in cases of epignathus?

establishing an airway after birth (having an EXIT procedure)

EXIT procedure =

exutero intrapatrumt treatment

epignathus will cause a ___ abnormality.

midline cleft

epignathus will appear with ____ echogenicity.

solid or mixed

what is the most common abnormality of the neck?

cystic hygroma

monoloculated or multiloculated lymphatic system anomaly causing abnormal nuchal fluid collection

cystic hygroma

cystic hygroma is a ___ or ___ neck fluid-filled mass.

posterior or lateral

cystic hygroma is associated with ____.

hydrops and Turner’s syndrome

2 areas of fluid =

hydrops

Turner’s syndrome is usually more common in ___.

females

how does cystic hygroma appear in the 1st trimester?

large NT measuring > 5mm

in the first trimester, cystic hygroma appears as a large NT, measuring ____.

greater than 5 mm

a small cystic hygroma can evolve into a ___.

thickened nuchal fold

what is the most common aneuploidy association with cystic hygroma?

Turner’s syndrome and trisomy 21

what is the 2nd most common aneuploidy association with cystic hygroma?

trisomy 13 and 18

enlarged fetal thyroid land due to either hyper or hypothyroidism

fetal goiter

a fetal goiter is a(n) ____ neck protrusion.

anterior

a fetal goiter causes a __ on the fetal neck.

mass effect

fetal goiter could affect ____.

delivery management

how can a fetal goiter lead to polyhydramnios?

could cause tracheal or esophageal obstruction

85-95% of fetal goiters are associated with ____.

maternal Graves’ disease (hyperthyroidism)

how will the heart be affected in cases of fetal goiter?

will be tachycardic

in cases of fetal goiter, the thyroid gland will appear…

enlarged, very hyperemic/diffusely vascular

in cases of fetal goiter, there is potential for ___.

FGR

how can the mother be treated if the baby has a fetal goiter?

with intraamniotic injections of synthroid

anterior neck mass that will usually have solid/cystic components

teratoma

teratomas will typically cause…

esophageal obstruction, airway obstruction

what other imaging modality is commonly recommended to image a teratoma?

MRI

what is a differential diagnosis for a teratoma?

epignathus

3D imaging helps for better visualization of anatomy. which axis helps to render the volume?

Z-axis