The Fetal Face and Neck

Which of the following would be most difficult to detect sonographically?

isolated cleft palate

Ocular diameter

measurement performed from the lateral wall of the orbit to the medial wall of the same orbit

binocular diameter

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

Hypertelorism

widely spaced eyes - an anterior cephalocele, which displaced the orbits laterally, has been cited as the most common cause hypertelorism - Holoprosencehaly has been cited as the most cause.

The isolated enlargement of the getal thyroid is referred to as:

fetal goiter

Nuchal Fold Measurement and Nuchal Translucency Measurement

- Nuchal fold thickness - a measurement taken in the second trimester of the skin on posterior aspect of the fetal neck. (a nuchal fold measurement of 6 mm or larger is considered abnormal) - Nuchal Translucency - the anechoic space along the posterior aspect of the fetal neck. - common finding during the second trimester in the fetuses with Down syndrome

cystic hygroma

- an abnormal accumulation of lymphatic fluid within the soft tissue. - the most common location of a cystic hygroma is within the neck - found in many syndromes and chromosomal abnormalities, such as Tuner syndrome, fetal hydrops, aneuploidy, trisomy 21, trisomy 18, and trisomy 13

The thickness of the nuchal fold in the second trimester should not exceed

6 mm

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

Amniotic band syndrome

The measurement obtained between the lateral walls of the orbits is referred to as the:

Binocular diameter

At what level is the nuchal fold measurement obtained?

Cavum septum pellucidum

Close set eyes and a nose with a single nostril is termed: A) Cebocephaly B) Cyclopia C) Ethmocephaly D) Epignathus

Cebocephaly

Macroglossia

- an unusual protuberance of the tongue (enlarged tongue) - most commonly associated with Beck-with-Wiedemann syndrome and Down syndrome - can be difficult to the differentiate from epignathus, which is a mostly solid-appearing oral teratoma

Fetal Goiter

- diffuse enlargement of the fetal thyroid gland - can be cause of overtreatment of masteral Grave disease, iodine deficiency, or hypothyroidism.

Sonographic findings of a cystic hygroma

1. Cystic neck mass divided in the midline by a thick fibrous band of tissue 2. The mass may contain smaller cystic areas with internal septations

Fusion of the orbits is termed:

Cyclopia

There is a definite link between microtia and what syndrome?

Down syndrome

Which of the following conditions does not affect the orbits?

Epignathus

The condition in which there is no nose and a proboscis separating two close-set orbits is:

Ethmocephaly

The optimal scan plane to visualize micrognathia is:

Sagittal

Micrognathia is a condition found in

Trisomy 18

An increase nuchal fold most likely associated with:

Trisomy 21

Which of following would most likely involve the development of a cystic hygroma?

Turner syndrome

Holoprosencephaly

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

Thyroglossal duct cyst

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

Branchial cleft cyst

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

The nuchal fold measurement is typically obtained:

between 15 weeks and 21 weeks

An abnormal division in the lip is referred to as

cleft lip

microphthalamia

decrease in the size of the eye

Micrognathia

- a small mandible and recessed chin (small chin) - associated with trisomy 13 and trisomy 18

Anophthalamia

- Absence of eyes - trisomy 13 and 18

The fetal lip typically closes by:

8 weeks

Turner Syndrome

A chromosomal disorder in females in which either an X chromosome is missing, making the person XO instead of XX, or part of one X chromosome is deleted.

interocular diameter

Length between the orbits

The most frequently encountered chromosomal abnormality associated with holoprosencephaly is:

Trisomy 13