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Fetal Abnormalities and Anomalies. Fetal Abnormalities Detectable by Ultrasound Brain –Anencephaly –Hydrocephalus –Chiari deformities –Encephalocele Spine.

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Presentation on theme: "Fetal Abnormalities and Anomalies. Fetal Abnormalities Detectable by Ultrasound Brain –Anencephaly –Hydrocephalus –Chiari deformities –Encephalocele Spine."— Presentation transcript:

1 Fetal Abnormalities and Anomalies

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

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

4 Intestinal Tract Abnormalities Detectable by Ultrasound Omphalocele Abdominal wall defects and gastroschisis Midgut malrotation 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 Lobulated echogenic mass Free floating loops of bowel in the amniotic fluid Fetal Abdomen Umbilical Cord Abdominal Contents

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: Osteogenic imperfecta 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 ductus arteriosus (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 Pulmonic stenosis (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 Joined at inferior aspect Moderate hydronephrosis Horseshoe Kidney

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

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