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Fetal Anomalies

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  1. Fetal Anomalies Anita Nowak, RDMS, MBA Manager, Imaging Magee-Womens Hospital of UPMC

  2. Common Fetal Anomalies • Anencephaly • Spina Bifida • Cleft Lip • Gastroschisis/Omphalocele • Trisomy 18 • Conjoined Twins

  3. Looking at Ultrasounds is very much like looking at clouds

  4. Use your imagination to find the cat in the ultrasound

  5. Anencephaly • The absence of the cranial vault

  6. 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”

  7. 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

  8. 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

  9. 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

  10. Ultrasound Findings • Upper lip defect on nose/mouth view

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. Ultrasound Findings • Clenched Hands • Choroid plexus cysts • “Strawberry” shaped head • Intrauterine growth restriction • Cardiac defects • Micrognathia • Low set ears

  17. 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

  18. Craniopagus • Joined on any portion of the skull except the face • Share the bones of the cranium • Have two trunks, four arms and legs

  19. 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

  20. Omphalopagus in the first trimester • Attached in the lower abdomen • Remain facing each other throughout the exam