Ch. 14 Fetal Face and Neck

Question 1

Hypoplastic or absent nasal bones may be associated with which trisomy

Answer 1

Trisomy 21 aka Down Syndrome

Question 2

When measuring the nasal bone, what plane are you in and what should the angle between the fetal profile and the transducer be?

Answer 2

Midsagittal plane
45 degrees

Question 3

What is the normal measurement of the nuchal fold and what is an increased nuchal fold associated with?

Answer 3

normal = <6mm
abnormal = > 6mm between 15 and 21 weeks
Trisomy 2 is associated with an increased nuchal fold

Question 4

What is microphthalmia

Answer 4

a small eye within a small orbit. associated with trisomy 13 aka Patau syndrome

Question 5

What is the most common congenital facial abnormality?

Answer 5

Facial clefting, cleft lip/ palate

Question 6

Sono finds of cleft lip/ palate

Answer 6

Anechoic cleft extending from nares (nostrils) to lip
possible POLY (due to inability to swallow normally)

Question 7

A median cleft lip may be associated with what other defect?

Answer 7

Holoprosencephaly. Because the development of this anomaly is related to the diff of the forebrain “the face predicts the brain”

Question 8

Micrognathia is associated with what trisomy

Answer 8

18, Edwards

Question 9

A prominent forehead due to an absent nasal bridge, it is associated with skeletal dysplasia and syndromes

Answer 9

Frontal bossing

Question 10

A rare pharyngeal teratoma that protrudes from the fetal mouth. Appears sonographically as a large complex cystic and solid mass that may hyperextend the neck

Answer 10

Epignathus

Question 11

How would you expect fluid levels to be in a fetus with epignathus?

Answer 11

Polyhydramnios (due to ineffective swallowing)

Question 12

A complex cystic/ solid mass near the fetal neck

Answer 12

Cervical teratoma (should not be mistaken for a cystic hygroma)

Question 13

Enlargement of the fetal thyroid gland

Answer 13

Goiter

Question 14

Goiters may be seen more often in patients who are being treated for which disease?

Answer 14

Graves disease aka Hyperthyroidism

Question 15

What landmarks need to be present in a nuchal fold measurement

Answer 15

CSP, 3rd ventricle, cerebellum, CM. (Fetal neck must NOT be hyperextended)

Question 16

A benign developmental anomaly of lymphatic system origin in which single or multiple cystic areas surround the neck

Answer 16

Cystic hygroma

Question 17

Which chromosomal abnormalities are highly associated with cystic hygromas

Answer 17

Turners syndrome and Down syndrome

Question 18

Large cystic hygromas are associated with what condition

Answer 18

Fetal hydrops

Question 19

Sono finds of cystic hygroma

Answer 19

thin-walled multiseptated mass at the posterior aspect of the neck
hydrops fetalis (ascites, anasarca, pleural effusions)
may mimic a cervical teratoma, encephalocele, cervical meningomyelocele