Ch. 25 The Fetal Face and Neck

Question 1

a group of brain abnormalities consisting of varying degrees of fusion of the lateral ventricles, absence of the midline structures, and associated facial anomalies

Answer 1

holoprosencephaly

Question 2

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

Answer 2

holoprosencephaly

Question 3

reduced distance between the orbits

Answer 3

hypotelorism

Question 4

close-set eyes (hypotelorism) and a nose with a single nostril

Answer 4

cebocephaly

Question 5

a condition in which there is no nose and a proboscis separating two close-set orbits; associated with holoprosencephaly

Answer 5

ethmocephaly

Question 6

fusion of the orbits

Answer 6

cyclopia

Question 7

the abnormal division in the lip

Answer 7

cleft lip

Question 8

the abnormal development of the soft and/or hard palate of the mouth where there is a division in the palate

Answer 8

cleft palate

Question 9

There are ____measurements that can be obtained in the transverse plane of the fetal face at the level of the eyes

Answer 9

three

Question 10

The corners of the eyes are referred to as the medial ____ and the lateral canthus

Answer 10

canthus

Question 11

corners of the eyes

Answer 11

Canthus

Question 12

the measurement from the lateral margin of the orbit to the medial margin of the same orbit

Answer 12

ocular diameter

Question 13

the length between the orbits; measured from the medial margin of one orbit to the medial margin of the other orbit

Answer 13

interocular diameter

Question 14

measurement from the lateral margin of one orbit to the lateral margin of the other orbit

Answer 14

binocular diameter (distance)

Question 15

a decrease in the size of the eye

Answer 15

Microphthalmia

Question 16

absence of the eye(s). Diagnosed when the globe and lens of the eyes are absent

Answer 16

Anophthalmia

Question 17

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.

Answer 17

Anophthalmia

Question 18

An increased distance between the orbits is referred to as _____,a disorder more accurately diagnosed utilizing the interocular diameter.

Answer 18

hypertelorism

Question 19

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.

Answer 19

anterior cephalocele, Holoprosencephaly

Question 20

____ is also associated with craniosynostosis and many chromosomal abnormalities.

Answer 20

Hypertelorism

Question 21

A reduction in the distance between the orbits is referred to as _____

Answer 21

hypotelorism

Question 22

The most common cause of hypotelorism has been cited to be _____, with _____ being the most frequently associated chromosomal abnormality

Answer 22

holoprosencephaly, trisomy 13

Question 23

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 ____

Answer 23

absence, hypoplasia

Question 24

Anomalies of the ears, including _____, have been noted with trisomies 13, 18, and 21

Answer 24

low-set ears

Question 25

Small ears, referred to as ____, have a strong link with Down syndrome (trisomy 21)

Answer 25

microtia

Question 26

absence of the ear(s)

Answer 26

anotia

Question 27

The fetal lip typically closes between __and __ weeks, whereas the palate closes by ___ weeks.

Answer 27

7, 8, 12

Question 28

____ and ____these two abnormalities may exist together or as isolated findings

Answer 28

cleft lip, cleft palate

Question 29

_____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

Answer 29

Cleft lip and cleft palat

Question 30

group of abnormalities associated with the entrapment of fetal parts in the amnion, often resulting in fetal amputations or clefting

Answer 30

amniotic band syndrome

Question 31

____ can be unilateral, bilateral, or midline in location. 3D sonography can be used to confirm the diagnosis of facial clefts

Answer 31

Cleft lip

Question 32

______ 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.

Answer 32

Isolated cleft palate

Question 33

an unusual protuberance of the tongue

Answer 33

Macroglossia

Question 34

Sound Off: _____ is defined as an unusual protuberance of the tongue. It is most commonly associated with Beckwith–Wiedemann syndrome and Down syndrome.

Answer 34

Macroglossia

Question 35

a growth disorder syndrome synonymous with enlargement of several organs, including the skull, tongue, and liver

Answer 35

Beckwith–Wiedemann syndrome

Question 36

Macroglossia can be difficult to differentiate from _____, which is a mostly solid-appearing oral ______

Answer 36

epignathus, teratoma

Question 37

an oral teratoma

Answer 37

epignathus

Question 38

Teratomas most often contain ______ tissue, whereas the enlarged tongue of macroglossia is completely _____.

Answer 38

complex, solid

Question 39

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 ______

Answer 39

polyhydramnios

Question 40

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

Answer 40

Micrognathia

Question 41

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.

Answer 41

short

Question 42

A gap in the maxilla in the sagittal plane is also suggestive of ______.

Answer 42

facial clefting.

Question 43

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.

Answer 43

prefrontal space distance

Question 44

Sound Off: The maxilla tends to be _____ in fetuses with trisomy 21.

Answer 44

short

Question 45

a mass, typically found in the neck region, that is the result of an abnormal accumulation of lymphatic fluid within the soft tissue

Answer 45

cystic hygroma (lymphangioma)

Question 46

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.

Answer 46

neck

Question 47

Although they are often related, a cystic hygroma should not be confused with increased _____, or _____

Answer 47

nuchal translucency or nuchal fold thickening

Question 48

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

Answer 48

cystic hygroma

Question 49

______have been found in many syndromes and chromosomal abnormalities, such as Turner syndrome, fetal hydrops, aneuploidy, trisomy 21, trisomy 18, and trisomy 13.

Answer 49

Cystic hygromas

Question 50

The sonographic appearance of a ____ is that of a cystic neck mass divided in the midline by a thick fibrous band of tissue.

Answer 50

cystic hygroma

Question 51

Nuchal thickening, edema, or redundant skin in the back of the neck is a common finding during the second trimester in fetuses with ______.

Answer 51

Down syndrome

Question 52

the posterior part or nape of the neck

Answer 52

Nuchal

Question 53

abnormal swelling of a structure as a result of a fluid collection

Answer 53

edema

Question 54

A nuchal fold measurement of ___ mm or larger is considered abnormal.

Answer 54

6; measurement obtained at the level of the the CSP

Question 55

________ 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

Answer 55

Nuchal fold thickness 15 and 21

Question 56

True or false: nuchal thickening may completely resolve as the pregnancy progresses.

Answer 56

True

Question 57

diffuse enlargement of the fetal thyroid gland

Answer 57

fetal goiter

Question 58

A ______ can be the cause of overtreatment of maternal Graves disease, iodine deficiency, or hypothyroidism.

Answer 58

fetal goiter

Question 59

Other possible solid- or complex-appearing ______ include the lymphangioma, hemangioma, cervical teratoma, branchial cleft cyst, or thyroglossal duct cyst.

Answer 59

neck masses

Question 60

benign congenital neck cysts found most often near the angle of the mandible

Answer 60

branchial cleft cyst

Question 61

benign congenital cysts located within the midline of the neck superior to the thyroid gland and near the hyoid bone

Answer 61

thyroglossal duct cyst

Question 62

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.

Answer 62

trachea or esophagus

Question 63

the anechoic space along the posterior aspect of the fetal neck

Answer 63

nuchal translucency

Question 64

a chromosomal aberration where one sex chromosome is absent; may also be referred to as monosomy X

Answer 64

Turner syndrome

Question 65

a collection of solid tissue on the posterior aspect of the fetal neck

Answer 65

nuchal fold

Question 66

an abnormal accumulation of fluid in at least two fetal body cavities

Answer 66

fetal hydrops

Question 67

a condition of having an abnormal number of chromosome

Answer 67

aneuploidy

Question 68

Occasionally the _____ artery can be noted within the globe earlier in gestation

Answer 68

hyaloid

Question 69

Hypertelorism is associated with

Answer 69

craniosynostosis

Question 70

Most common cause of hypertelorism

Answer 70

anterior cephalocele (displaces orbits laterally)

Question 71

What scan plane would likely optimize the visualization of a cleft lip?

Answer 71

coronal and axial