1 / 53

Fetal Anomalies

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

louis
Download Presentation

Fetal Anomalies

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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

More Related