Fetal Anomalies
Anita Nowak, RDMS, MBA
Manager, Imaging
Magee-Womens Hospital of UPMC
Common Fetal Anomalies
Anencephaly
Spina Bifida
Cleft Lip
Gastroschisis/Omphalocele
Trisomy 18
Conjoined Twins
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Looking at Ultrasounds is very much like looking at clouds
Use your imagination to find the cat in the ultrasound
Anencephaly
The absence of the cranial vault
Ultrasound Findings
If early in pregnancy, brain tissue can be seen
Head has an irregular shape
There is no soft tissue seen above the orbits
Face eyes appear frog like
Spina Bifida
There are many forms of neural tube
defects, Spina Bifida is the most common of
the central nervous system
A midline defect of the vertebrae that
results in exposure of the contents of the
neural canal
Can be genetic
Ultrasound Findings
Meningocele
Anechoic cystic mass
Rarely covered by skin
Does not contain neural tissue
Myelomeningocele
Complex cystic mass
Contains neural tissue
Chiari II Malformation seen in 99% of cases
Absent cisterna magna
Banana Sign Abnormal cerebellum
Ventriculomegaly
Lemon shaped calvarium
Cleft Lip
2nd most common congenital malformation
Estimated to be 1:700 live births
50% both lip and palate are defective
Can be caused by both genetic and
environmental factors
97% of the time it is an isolated finding
Occurs shortly after 3rd week of gestation when
the grooves that separate the structures that
form the primitive oral cavity persist, they would
normally be obliterated by normal growth.
Most commonly seen is a unilateral cleft
Ultrasound Findings
Upper lip defect on nose/mouth view
Gastroschisis
Gastroschisis is a paraumbilical defect of
the anterior abdominal wall.
Incidence ranges from 1:10,000 to 1:15,000
Is not associated with an increased risk of
other anomalies
Not usually associated with a chromosomal
abnormality
Ultrasound Findings
Normal umbilical cord insertion site
Small bowel loops seen in the amniotic
cavity
No covering membrane over the loops of
bowel
Can include stomach and large bowel
Majority occur to the right of the umbilical
cord
Omphalocele
A ventral wall defect where there is
herniation of the intraabdominal contents
into the base of the umbilical cord
Unlike gastroschisis, there is a membrane
covering these contents
Estimated to occur in 1:5800 to 1:5130
Most cases are sporadic
Unlike gastroschisis this condition IS often
associated with a chromosomal abnormality
Ultrasound Findings
Umbilical cord insertion is typically midline
on the mass
Located centrally
Typically the contents of the mass are liver
and small bowel; however, other abdominal
organs can be present
Trisomy 18
Also called Edwards Syndrome
There are three 18th chromosomes instead
of two
Multiple major anomalies are seen
Occurs in approximately 1:2500
pregnancies
50% carried to term will be stillborn
Of those that survive, only 10% survive to
their first birthday
Not genetic typically occur sporadically
Ultrasound Findings
Clenched Hands
Choroid plexus cysts
Strawberry shaped head
Intrauterine growth restriction
Cardiac defects
Micrognathia
Low set ears
Conjoined Twins
Incidence is 1:50,000 to 1:100,000
Sporadic event caused by an incomplete
division of the embryonic cell mass
Different types of conjoined twins
Craniopagus joined at the brain
Thoracopagus joined at the heart
Omphalopagus Xiphopagus joined at the
abdomen
Pygopagus joined at the buttocks and lower
spine
Ischiopagus joined at the hips
Craniopagus
Joined on any
portion of the skull
except the face
Share the bones of
the cranium
Have two trunks,
four arms and legs
Thoracopagus
Most common form of
conjoined twins
Congenital heart disease
found in 75% of cases
The union always
includes the heart
Most frequent
abnormality is a
conjoined heart with two
ventricles and a varying
number of atria
Omphalopagus in the first
trimester
Attached in the lower
abdomen
Remain facing each
other throughout the
exam
Pygopagus
Joined at the
buttocks and lower
spine
Face away from
each other
Have one anus,
two rectums, four
arms and legs
Ischiopagus
Joined end to end
with the spine in a
straight line
Four arms and a
variable number of
legs
Have only one
external genitalia
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