Anita Nowak, RDMS, MBA

Manager, Imaging
Magee-Womens Hospital of UPMC
 Anencephaly
 Spina Bifida
 Cleft Lip
 Gastroschisis/Omphalocele
 Trisomy 18
 Conjoined Twins
Looking at Ultrasounds is very much like
looking at clouds
Use your imagination to find the cat in the
ultrasound
 The absence of the cranial vault
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”
 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
 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
 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
 Upper lip defect on nose/mouth view
 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
 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
 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
 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
 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
 Clenched Hands
 Choroid plexus cysts
 “Strawberry” shaped head
 Intrauterine growth restriction
 Cardiac defects
 Micrognathia
 Low set ears
 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
 Joined on any
portion of the skull
except the face
 Share the bones of
the cranium
 Have two trunks,
four arms and legs
 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
 Attached in the lower
abdomen
 Remain facing each
other throughout the
exam
 Joined at the
buttocks and lower
spine
 Face away from
each other
 Have one anus, two
rectums, four arms
and legs
 Joined end to end
with the spine in a
straight line
 Four arms and a
variable number of
legs
 Have only one
external genitalia