Fetal Abnormalities and Anomalies

1. Fetal Abnormalities and Anomalies

2. Brain Anencephaly Hydrocephalus Chiari deformities Encephalocele Spine Spina bifida cystica Myelomeningocele Renal Hydronephrosis Renal agenesis Cardiac Chambers Orientation General Abdominal wall defects Lung abnormalities Fetal Abnormalities Detectable by Ultrasound

3. Hydrocephalus • Dilated ventricles • Large sausage like hypoechoic area represents dilated lateral ventricle

4. Intestinal Tract AbnormalitiesDetectable by Ultrasound • Omphalocele • Abdominal wall defects and gastroschisis • Midgutmalrotation • Focal intestinal atresia

5. Normal Development of Intestinal Tract • At 9 weeks there is physiologic herniation of the small bowel into the umbilical cord • The small bowel rotates 90 degrees counterclockwise around the superior mesenteric artery • At 12 weeks the small bowel returns into the abdominal cavity while rotating an additional 180 degrees counterclockwise around the superior mesenteric artery • Total rotation of 270 degrees

6. Omphalocele • Midline defect • Covering membrane • Contains organs or bowel • Cord from apex of mass

7. Omphalocele • Axial view mid-abdomen • Soft tissue mass extending to right • Abdominal contents outside the fetal abdomen • Note: enclosed by a membrane (arrows) Fetal Abdomen

8. Gastroschisis • Defect of anterior wall • Lateral to umbilicus • Bowel loops float in amniotic fluid • Cord separate

9. Gastroschisis • Lobulatedechogenic mass • Free floating loops of bowel in the amniotic fluid Abdominal Contents Fetal Abdomen Umbilical Cord

10. Normal UGI, Small Bowel • Small bowel distributed throughout the abdomen primarily to the left

11. Mid-gut Malrotation • Barium UGI • Stomach normal position • Small bowel completely on right side of abdomen

12. Normal Barium Enema • Normal colon frames the margins of the abdomen

13. Mid-gut Malrotation • Barium enema • Colon located entirely on the left side of the abdomen • Same case as earlier mal-rotation case

14. Duodenal Atresia • Plain film upright abdomen • “Double bubble” sign • Air distended stomach and proximal duodenum • Atresia involves second portion of the duodenum Image donated by Dr. Nancy Fitzgerald – Texas Children’s Hospital Houston Texas

15. Skeletal Development Long Bones • Diaphysis ossified at birth (shaft of long bone) • Epiphysis radiolucent (cartilage) at birth except for distal femoral epiphysis • Develop Epiphyseal Ossification Centers (EOC) later in life

16. Skeletal Development Long Bones • Physis • Cartilaginous plate between EOC and metaphysis • Responsible for growth in length • When ossifies (closes) – longitudinal growth stops • Weak point in the bone • Metaphysis • Active bone formation via formation and calcification of osteoid

17. Bone Growth Abnormalities • Cartilage growth deficiency • Example: Achondroplasia • Ossification growth deficiency • Example: Osteogenicimperfecta • Metabolic defect • Example: Hypophosphatasia

18. Osteogenesis Imperfecta • Deficient peri- and endosteal ossification • Multiple fractures • Healing with deformities of bones • Limb shortening

19. Achondroplasia • Dwarfism • Deficient cartilage growth • Lower limbs with ruler to measure leg length • Short limb bones with flaring metaphyses

20. Cardiovascular System- Developmental Abnormalities • Congenital heart disease • Intra-cardiac septal defect (VSD, ASD) • Patent ductusarteriosus (PDA) • Tetralogy of Fallot (VSD, Pulmonary stenosis, Overiding Aorta, RV hypertrophy) • Endocardial cushion defect • Pulmonary stenosis (PS) • Congenital vessel anomaly • Coarctation of aorta • Transposition of the great vessels

21. Normal Cardiac Anatomy • Right heart border • Upper portion - SVC and ascending aorta • Lower portion – right atrium • Left heart border • Upper portion – aortic arch • Mid portion – main pulmonary artery • Lower middle portion – left atrium • Lower portion – left ventricle

22. Normal Chest Lateral • Anterior heart border • Upper portion – aortic arch • Mid portion – pulmonary artery • Lower portion – right ventricle • Posterior heart border • Upper portion – left atrium • Lower portion – left ventricle and IVC

23. Atrial Septal Defect • Increased pulmonary vascularity • Small aortic arch • Large main pulmonary artery • Right atrial and ventricular hypertrophy

24. Tetralogy of Fallot • “Boot-shaped” heart • Pulmonicstenosis (infundibulum) • VSD • Right ventricular hypertrophy • Overriding aorta • Pulmonary circulation decreased

25. Renal Abnormalities • Anomalies in size and form • Horseshoe kidney • Anomalies in position • Malrotation • Ectopia • Anomalies in structure • Polycystic kidney • Anomalies of drainage system • Duplicated kidney, ureter

26. Normal Kidney • Intravenous urogram • Opacification of collecting systems and ureters

27. Duplication of Kidney • Both kidneys with 2 collecting systems • Right and Left upper system dilated • Lower units smaller • Ureters join before bladder

28. Horseshoe Kidney • Horseshoe kidney • Joined at inferior aspect • Moderate hydronephrosis

29. Horseshoe Kidneys • Axial images demonstrate kidneys joined across the midline anterior to the aorta and inferior vena cava

30. Pelvic Kidney • AP tomogram • Both kidneys in the pelvis

31. Polycystic Kidneys • Axial scan with contrast • Enlarged lobulated kidneys • Multiple cysts • Varying size

32. CT Multiple Cysts Multiple Renal Cysts

33. CT Renal Cysts

34. Ultrasound Renal Cyst

35. Renal Abnormalities • Hydronephrosis • Hypoechoic (Dark areas) • Thinning of renal cortex indicates long standing process

36. Hydronephrosis Massive Hydronephrosis