Ch. 25 The Fetal Face and Neck Flashcards
a group of brain abnormalities consisting of varying degrees of fusion of the lateral ventricles, absence of the midline structures, and associated facial anomalies
holoprosencephaly
Sound Off:Whenever any form of _____ is suspected, a thorough facial evaluation should be performed to assess for the associated facial abnormalities that often accompany this unfortunate brain malformation
holoprosencephaly
reduced distance between the orbits
hypotelorism
close-set eyes (hypotelorism) and a nose with a single nostril
cebocephaly
a condition in which there is no nose and a proboscis separating two close-set orbits; associated with holoprosencephaly
ethmocephaly
fusion of the orbits
cyclopia
the abnormal division in the lip
cleft lip
the abnormal development of the soft and/or hard palate of the mouth where there is a division in the palate
cleft palate
There are ____measurements that can be obtained in the transverse plane of the fetal face at the level of the eyes
three
The corners of the eyes are referred to as the medial ____ and the lateral canthus
canthus
corners of the eyes
Canthus
the measurement from the lateral margin of the orbit to the medial margin of the same orbit
ocular diameter
the length between the orbits; measured from the medial margin of one orbit to the medial margin of the other orbit
interocular diameter
measurement from the lateral margin of one orbit to the lateral margin of the other orbit
binocular diameter (distance)
a decrease in the size of the eye
Microphthalmia
absence of the eye(s). Diagnosed when the globe and lens of the eyes are absent
Anophthalmia
It results from the failure of the optic vesicle to form and has been linked with multiple abnormalities and chromosomal aberrations, including Goldenhar syndrome, trisomy 13, and trisomy 18.
Anophthalmia
An increased distance between the orbits is referred to as _____,a disorder more accurately diagnosed utilizing the interocular diameter.
hypertelorism
Sound Off:
An _____, which displaces the orbits laterally, has been cited as the most common cause of hypertelorism. _____has been cited as the most common cause of hypotelorism.
anterior cephalocele, Holoprosencephaly
____ is also associated with craniosynostosis and many chromosomal abnormalities.
Hypertelorism
A reduction in the distance between the orbits is referred to as _____
hypotelorism
The most common cause of hypotelorism has been cited to be _____, with _____ being the most frequently associated chromosomal abnormality
holoprosencephaly, trisomy 13
There is a notable link between the ____ of the fetal nasal bone and Down syndrome.
The nasal bone can also be measured for signs of ____
absence, hypoplasia
Anomalies of the ears, including _____, have been noted with trisomies 13, 18, and 21
low-set ears
Small ears, referred to as ____, have a strong link with Down syndrome (trisomy 21)
microtia
absence of the ear(s)
anotia
The fetal lip typically closes between __and __ weeks, whereas the palate closes by ___ weeks.
7, 8, 12
____ and ____these two abnormalities may exist together or as isolated findings
cleft lip, cleft palate
_____are among the most common congenital abnormalities and have been associated with many syndromes and congenital anomalies, such as holoprosencephaly, trisomy 13, and amniotic band syndrome, although most of the cases are not associated with any other abnormalities
Cleft lip and cleft palat
group of abnormalities associated with the entrapment of fetal parts in the amnion, often resulting in fetal amputations or clefting
amniotic band syndrome
____ can be unilateral, bilateral, or midline in location. 3D sonography can be used to confirm the diagnosis of facial clefts
Cleft lip
______ is more difficult to diagnose sonographically and may be missed altogether. Nonetheless, coronal and axial imaging of the face have been shown exceedingly effective in discovering these defects.
Isolated cleft palate
an unusual protuberance of the tongue
Macroglossia
Sound Off:
_____ is defined as an unusual protuberance of the tongue. It is most commonly associated with Beckwith–Wiedemann syndrome and Down syndrome.
Macroglossia
a growth disorder syndrome synonymous with enlargement of several organs, including the skull, tongue, and liver
Beckwith–Wiedemann syndrome
Macroglossia can be difficult to differentiate from _____, which is a mostly solid-appearing oral ______
epignathus, teratoma
an oral teratoma
epignathus
Teratomas most often contain ______ tissue, whereas the enlarged tongue of macroglossia is completely _____.
complex, solid
Both macroglossia and epignathus can cause obstruction to the normal swallowing and inhalation of amniotic fluid that typically occurs throughout gestation; thus, they may be associated with ______
polyhydramnios
a small mandible and recessed chin, is associated with trisomy 13 and trisomy 18 and has been found in several other syndromes and chromosomal aberrations. is best visualized in the sagittal view of the fetal face
Micrognathia
The maxilla tends to be ____ in fetuses with trisomy 21.This is secondary to the fact that the fetus affected with trisomy 21 tends to have flat facial feature with a prominent tongue.
short
A gap in the maxilla in the sagittal plane is also suggestive of ______.
facial clefting.
for the ______a line is drawn from the anterior aspect of both the mandible and the maxilla and extended toward the fetal forehead. This analysis is typically performed between 11 and 14 weeks’ gestation, and, although it is not a common measurement, it is most often obtained when flattened facial features are present or other facial abnormalities are suspected.
prefrontal space distance
Sound Off:
The maxilla tends to be _____ in fetuses with trisomy 21.
short
a mass, typically found in the neck region, that is the result of an abnormal accumulation of lymphatic fluid within the soft tissue
cystic hygroma (lymphangioma)
The most common location of a cystic hygroma is within the _____, although it may be discovered within the axilla of the fetus or anywhere lymph nodes can be found.
neck
Although they are often related, a cystic hygroma should not be confused with increased _____, or _____
nuchal translucency or nuchal fold thickening
Sonographic findings of____
Cystic neck mass divided in the midline by a thick fibrous band of tissue
The mass may contain smaller cystic areas with internal septations
cystic hygroma
______have been found in many syndromes and chromosomal abnormalities, such as Turner syndrome, fetal hydrops, aneuploidy, trisomy 21, trisomy 18, and trisomy 13.
Cystic hygromas
The sonographic appearance of a ____ is that of a cystic neck mass divided in the midline by a thick fibrous band of tissue.
cystic hygroma
Nuchal thickening, edema, or redundant skin in the back of the neck is a common finding during the second trimester in fetuses with ______.
Down syndrome
the posterior part or nape of the neck
Nuchal
abnormal swelling of a structure as a result of a fluid collection
edema
A nuchal fold measurement of ___ mm or larger is considered abnormal.
6; measurement obtained at the level of the the CSP
________ measurements are taken later in gestation compared to nuchal translucency measurements. Although protocols may vary, the nuchal fold is typically measured anywhere between __ and __ weeks, whereas the nuchal translucency measurement can be taken earlier and is most accurately measured between 11 and 13 weeks 6 days
Nuchal fold thickness
15 and 21
True or false:
nuchal thickening may completely resolve as the pregnancy progresses.
True
diffuse enlargement of the fetal thyroid gland
fetal goiter
A ______ can be the cause of overtreatment of maternal Graves disease, iodine deficiency, or hypothyroidism.
fetal goiter
Other possible solid- or complex-appearing ______ include the lymphangioma, hemangioma, cervical teratoma, branchial cleft cyst, or thyroglossal duct cyst.
neck masses
benign congenital neck cysts found most often near the angle of the mandible
branchial cleft cyst
benign congenital cysts located within the midline of the neck superior to the thyroid gland and near the hyoid bone
thyroglossal duct cyst
Fetal neck masses can cause compression of the _____or _____ and should be noted during a sonographic examination because complication at birth could ensue. Furthermore, fetal swallowing may be inhibited by a neck or oral mass, thus resulting in polyhydramnios.
trachea or esophagus
the anechoic space along the posterior aspect of the fetal neck
nuchal translucency
a chromosomal aberration where one sex chromosome is absent; may also be referred to as monosomy X
Turner syndrome
a collection of solid tissue on the posterior aspect of the fetal neck
nuchal fold
an abnormal accumulation of fluid in at least two fetal body cavities
fetal hydrops
a condition of having an abnormal number of chromosome
aneuploidy
Occasionally the _____ artery can be noted within the globe earlier in gestation
hyaloid
Hypertelorism is associated with
craniosynostosis
Most common cause of hypertelorism
anterior cephalocele (displaces orbits laterally)
What scan plane would likely optimize the visualization of a cleft lip?
coronal and axial
