Chapter 25: The Fetal Face and Neck

fetal hydrops

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

epignathus

an oral teratoma

macroglossia

an unusual protuberance of the tongue

The most common cause of hypertelorism is

anterior cephalocele

An abnormal division in the lip is referred to as..

cleft lip

cebocephaly

closet set eyes(hypotelorism) and a nose with a single nostril

amniotic band syndrome

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

hypertelorism

increased distance between the orbits; widely spaced orbits

nuchal translucency

the anechoic space along the posterior aspect of the fetal neck

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

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

6mm

The fetal lip closes by

8 weeks

A cystic hygroma is the result of?

An abnormal accumulation of lymphatic fluid within the soft tissue

Macroglossia is most commonly associated with what syndrome?

Beckwith-Wiedemann Syndrome

Nuchal thickening is most commonly associated with?

Down Syndrome

What is another name for Trisomy 21?

Down Syndrome

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

Ethmocephaly

Facial anomalies, when discovered, should prompt the sonographer to analyze the brain closely for signs of?

Holoprosencephaly

A cystic hygroma is found in all of the following condition except? -Edwards Syndrome -Hydranencephaly -Turner Syndrome -all of the above

Hydranenecephaly

An unusual protuberance of the tongue is termed?

Macroglossia

The most common location of a cystic hygroma is within the?

Neck

What is another name for Patau Syndrome?

Trisomy 13

Micrognathia is associated with what two trisomies?

Trisomy 13 and 18

Micrognathia is a condition found in?

Trisomy 18

Turner Syndrome

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

nuchal fold

a collection of solid tissue at the back of the fetal neck

ethmocephaly

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

micrognathia

a small mandible and recessed chin

teratoma

a tumor that typically consists of several germ cell layers

edema

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

anophthalmia

absence of the eye(s)

Cleft lip and cleft palate may exist with which one? -amniotic band syndrome -holoprosencephaly -trisomy 13 -all of the above

all of the above

nuchal translucency is typically measured when?

between 11 and 14 weeks

Close-set and a nose with a single nostril is termed..

cebocephaly

Fusion of the orbits

cyclopia

A large, mostly cystic mass is noted in the cervical spine region of the fetus. This most likely represents a?

cystic hygroma

All of the following are sonographic findings of holoprosencephaly except? -cystic hygroma -proboscis with cyclopia -fused thalamus -monoventricle

cystic hygroma

cyclopia

fusion of the orbits

binocular diameter

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

A small mandible

micrognathia

hypoterlorism

reduced distance between the orbits

The optimal scan plane to visualize micrognathia is

sagittal

cleft palate

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

cleft lip

the abnormal division of the lip

The palate closes by..

12 weeks

nuchal fold is measured anywhere between ______ weeks and _____ weeks?

15 and 19

aneuploidy

a condition of having an abnormal number of chromosomes

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

ocular diameter

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

nuchal

the posterior part or nape of the necl

The most frequently encountered chromosomal abnormality associated with holoprosencephaly is?

trisomy 13

Beckwith-Wiedemann Syndrome

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

cystic hygroma

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

interocular diameter

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