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penny ob/gyn > Ch. 25 The Fetal Face and Neck > Flashcards

Ch. 25 The Fetal Face and Neck Flashcards

1
Q

holoprosencephaly

A

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

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2
Q

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

A

holoprosencephaly

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3
Q

hypotelorism

A

reduced distance between the orbits

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4
Q

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

A

cebocephaly

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5
Q

ethmocephaly

A

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

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6
Q

cyclopia

A

fusion of the orbits

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7
Q

cleft lip

A

the abnormal division in the lip

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8
Q

cleft palate

A

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

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9
Q

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

A

three

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10
Q

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

A

canthus

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11
Q

corners of the eyes

A

Canthus

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12
Q

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

A

ocular diameter

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13
Q

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

A

interocular diameter

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14
Q

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

A

binocular diameter (distance)

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15
Q

a decrease in the size of the eye

A

Microphthalmia

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16
Q

absence of the eye(s)

A

Anophthalmia

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17
Q

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.

A

Anophthalmia

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18
Q

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

A

hypertelorism

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19
Q

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.

A

anterior cephalocele, Holoprosencephaly

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20
Q

____ is also associated with craniosynostosis and many chromosomal abnormalities.

A

Hypertelorism

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21
Q

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

A

hypotelorism

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22
Q

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

A

holoprosencephaly, trisomy 13

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23
Q

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 ____

A

absence, hypoplasia

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24
Q

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

A

low-set ears

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25
Q

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

A

microtia

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26
Q

absence of the ear(s)

A

anotia

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27
Q

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

A

7, 8, 12

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28
Q

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

A

cleft lip, cleft palate

29
Q

_____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

A

Cleft lip and cleft palat

30
Q

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

A

amniotic band syndrome

31
Q

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

A

Cleft lip

32
Q

______ 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.

A

Isolated cleft palate

33
Q

an unusual protuberance of the tongue

A

Macroglossia

34
Q

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

A

Macroglossia

35
Q

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

A

Beckwith–Wiedemann syndrome

36
Q

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

A

epignathus, teratoma

37
Q

an oral teratoma

A

epignathus

38
Q

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

A

complex, solid

39
Q

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 ______

A

polyhydramnios

40
Q

a small mandible and recessed chin

A

Micrognathia

41
Q

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.

A

short

42
Q

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

A

facial clefting.

43
Q

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.

A

prefrontal space distance

44
Q

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

A

short

45
Q

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

A

cystic hygroma

46
Q

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.

A

neck

47
Q

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

A

nuchal translucency or nuchal fold thickening

48
Q

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

A

cystic hygroma

49
Q

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

A

Cystic hygromas

50
Q

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

A

cystic hygroma

51
Q

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

A

Down syndrome

52
Q

the posterior part or nape of the neck

A

Nuchal

53
Q

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

A

edema

54
Q

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

A

6

55
Q

________ 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

A

Nuchal fold thickness
15 and 21

56
Q

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

A

True

57
Q

diffuse enlargement of the fetal thyroid gland

A

fetal goiter

58
Q

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

A

fetal goiter

59
Q

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

A

neck masses

60
Q

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

A

branchial cleft cyst

61
Q

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

A

thyroglossal duct cyst

62
Q

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.

A

trachea or esophagus

63
Q

the anechoic space along the posterior aspect of the fetal neck

A

nuchal translucency

64
Q

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

A

Turner syndrome

65
Q

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

A

nuchal fold

66
Q

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

A

fetal hydrops

67
Q

a condition of having an abnormal number of chromosome

A

aneuploidy

68
Q

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

A

hyaloid

penny ob/gyn (5 decks)

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