Transcript Fetal Face & Neck

Fetal Face & Neck
HHHOLDORF
Normal Anatomy
 Face:
 Evaluation of the face is a vital part of the clinical genetic
examination that is performed post-natally. Any time a
fetal anomaly is identified, the diagnostic workup should
include a detailed examination of the fetal face. Many
details of facial anatomy can be identified as early as 11
weeks, particularly by using transvaginal sonography. It is
necessary that it is accessible and there is a pocket of
amniotic fluid in front of it for three dimensional scanning.
 The upper lip and nares may be visualized in an oblique
coronal plane and is useful in searching for facial clefts
and some types of proboscis.
 The profile shows the forehead, nose and jaw
which are important to assess the integrity of
these structures.
Eyes
 The
eyes may be
imaged in either a
true coronal or a
transverse plane. It is
important to measure
the
outer
orbital
distance because it
is
valuable
in
diagnosing
hypertolerism
or
hypotelorism
Neck
 Transverse
sections
allow the measurement
of the nuchal fold.
Studies have shown an
association with Down
syndrome
when
this
measurement
exceeds
6mm between 15 and 21
weeks. It is considered
nuchal thickening when
there is increased soft
tissue thickness over the
posterior aspect of the
neck.
Facial Clefting
 Typical facial clefts are cleft lip and Cleft palate
anomalies. Cleft palate refers to the defect of
the posterior portion of the palate in the
presence of a normal upper lip and anterior
palate. CL-CP can be unilateral or bilateral, and
usually results from a failure of mesenchymal
masses of the lateral palatine processes to fuse
with each other, with the nasal septum and/ or
median palatine process. It can be genetic or
non genetic causing a minor developmental
defect.
 Sonographic
presentation
demonstrates
a
groove
extending
from
one
nostril
through the lip and
possibly the alveolar
ridge.
 A cleft lip or palate can be
successfully treated with
surgery soon after birth.
 The edges of the cleft
between the lip and nose
are cut (A and B). The
bottom of the nostril is
formed with suture (C).
The upper part of the lip
tissue is closed (D), and
the stitches are extended
down to close the opening
entirely (E). (
 Illustration by Argosy.)
Median cleft lip

A malformation of the upper lip
with/without cleft palate. The
development of this anomaly is
related to the differentiation process
of the forebrain and is often
associated with other midline
defects or the face and brain such
as
holoprosencephaly.
The
incidence is about 1: 10,000,000
births
 It can vary from being a small notch
to a complete division of the lip and
alveolar part of the maxilla.
 When it is unilateral it results from
failure of maxillary prominence to
fuse with medial nasal prominences.
 When it is bilateral it results from
failure of maxillary processes to
meet and merge with medial
prominences.
Epignathus
 A congenital tumor and a
rare type of teratoma arising
from the oral cavity or
pharynx. It is associated
with midline abnormalities. It
may also arise from the
sphenoid bone, hard or soft
palate, pharynx, tongue or
jaw.
 Sonographic Findings:
 Solid, complex tumor seen
extruding from the fetal
mouth, calcifications may be
present within mass
 Calcifications
may
be
present within mass.
Micrognathism (Micrognathia)
 A condition where the jaw is
undersized and is
sometimes called
“Mandibular hypoplasia.” It
is common in infants but is
usually self correcting during
growth, due to the jaws
increasing in sized. It may
be a cause of abnormal
tooth alignment and in
severe cases can hamper
feeding. It can present as a
birth defect in multiple
syndromes (fetal alcohol
syndrome, congenital
rubella, Trisomy 13 and 18).
Macroglossia
 Minor
or
severe
enlargement of the
tongue can cause
cosmetic
and
or
functional difficulties,
such as speaking,
eating,
swallowing
and sleeping.
ORBITAL DEFECTS
 Hypotelorism-
a medical condition
pertaining to abnormally close eyes.
 Hypertelorism
–
an
abnormally
increased distance between two organs
or bodily parts, usually referring to an
increased distance between the eyes,
seen in a variety of syndromes.
 Microphthalmia
or micropthlamos
means small eye.
Anophthalmia
(Anopththalmos)
 The congenital absence of one or both eyes.
 True or primary anopththalmos is very rare. The
diagnosis for this can ONLY be made when
there is complete absence of the ocular tissue
within the orbit. Extreme micropthlamos is seen
more commonly. In this condition, a very small
globe is present within the orbital soft tissue,
which is not visible on the first examination.
 Primary
(No
eye
tissue)
Secondary
(extremely
tiny
eyes, eyes start to
develop then stops)
 Degenerative (eye
started to form and
for some reason
degenerated
Retinoblastoma
 Cancer of the retina.
This tumor can begin
in one or both eyes
and can spread to
the brain through the
optic
nerve.
Development of the
tumor is initiated by
mutations
Holoprosencephaly
 A spectrum of defects or malformations of the brain and face.
The most severe cases involve serious malformations of the
brain, and malformations so severe that they often cause
miscarriage or stillbirth. There can also be facial defects – which
may affect the eyes, nose, and upper lip- and normal or nearnormal brain development. Seizures and mental retardation
may occur. The etiology is unknown. Suggested risk factors
include: maternal diabetes, infections during pregnancy such as
herpes, syphilis, rubella etc., and various drugs taken during
pregnancy. Women with previous pregnancy loss and 1st
trimester bleeding are likely to give birth to a child with this
defect.
 Symptoms:
 Range from mild (no facial/organ defects), moderate ( cleft lip
or palate) to severe ( synopththalmia proboscis or cyclopia)
Holoprosencephaly
 The alobar type, which is
the
most
severe,
is
characterized
by
a
monoventricular
cavity
and fusion of the thalami.
In the semilobar type
there
is
partial
segmentation
of
the
ventricles and cerebral
hemispheres posteriorly
with incomplete fusion of
the thalami. In lobar
holoprosencephaly there
is normal separation of
the ventricles and thalami
but absence of the septum
pellucidum.
Anomalies of the Neck

Teratoma of the Neck
(Cervical teratoma)
 Similar
to epignathus
except the tumor arises
from
the
neck.
Sonographic appearance
includes
complex,
cystic/solid tumor seen
near the fetal neck.
 It is vital to be able to
identify the origin of the
mass
in
order
to
distinguish
it
from
epignathus.
Cystic Hygroma
 Benign
developmental
anomaly of lymphatic
origin characterized by
sing or multiple cystic
areas within soft tissues
surrounding the neck.
Sonographically it can
appear to be a thin
walled,
multi-septated
cyst
usually
located
posterior
to
fetal
head/neck but also may
be anterior.