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