Fetal Anomalies Anita Nowak, RDMS, MBA Manager, Imaging

Fetal Anomalies Anita Nowak, RDMS, MBA Manager, Imaging

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

Click icon to add picture 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 Questions??

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