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Fetal Abnormalities and Anomalies

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Presentation on theme: "Fetal Abnormalities and Anomalies"— Presentation transcript:

1 Fetal Abnormalities and Anomalies
In this presentation will be discussing various issues related to imaging of the fetus including some discussion about the evaluation of 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 A variety of fetal abnormalities may be detected by a variety of imaging techniques including ultrasound. Abnormalities of the brain including anencephaly, hydrocephalus, Chiari deformities and encephalocele might be detected prenatally by ultrasound. Additionally abnormalities of the spine including spina bifida cystic, and myelomeningocele maybe evaluated prenatally by ultrasound. Abnormalities of the kidneys including hydronephrosis or the absence of a kidney renal agenesis are identifiable by ultrasound. Cardiac abnormalities including abnormal chamber development and orientation can also be evaluated by ultrasonography. A variety of abdominal wall defects and possibly lung abnormalities are also detectable by ultrasound.

3 Hydrocephalus Dilated ventricles
Large sausage like hypoechoic area represents dilated lateral ventricle In this later pregnancy we demonstrate the presence of hydrocephalus as demonstrated by the presence of dilated ventricles presenting on the images . These appear as large sausage like hypoechoic areas representing the dilated lateral ventricles. Note the dilated lateral ventricle between the two arrow heads.

4 Intestinal Tract Abnormalities Detectable by Ultrasound
Omphalocele Abdominal wall defects and gastroschisis Midgut malrotation Focal intestinal atresia A variety of abnormalities of the intestinal tract may be detectable by ultrasound. Others will require the use of barium or plain film imaging following birth. Omphalocele, abdominal wall defects and gastroschisis are easily detectable by ultrasound techniques prenatally. Midgut malrotation will require barium evaluation following birth and intestinal atresias may be detected by plain film evaluation or other methods following delivery.

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 If you recall, in embryologic development, normally at 9 weeks, there is a physiologic herniation of the small bowel into the root of the umbilical cord. During the course of the gestational process the small bowel rotates 90 degrees counterclockwise about the superior mesenteric artery. At 12 weeks of gestation the small bowel returns into the abdominal cavity while rotating an additional 180 degrees counterclockwise around the superior mesenteric artery. The total rotation being 270 degrees.

6 Omphalocele Midline defect Covering membrane Contains organs or bowel
Cord from apex of mass Diagrammatically on this slide we demonstrate the presence of Omphalocele. A midline defect with a covering membrane, the two most important features of this abnormality. This midline defect contains organ or bowel and will have the umbilical cord at the apex of the projection from the anterior bowel wall.

7 Omphalocele Axial view mid-abdomen Soft tissue mass extending to right
Abdominal contents outside the fetal abdomen Note: enclosed by a membrane (arrows) Ultrasonographically here as a demonstration of an axial view through the midportion of the fetal abdomen note the soft tissue mass extending to the right on this image. Abdominal contents are outside of the fetal abdomen, but are enclosed by a membrane as indicated by the arrows. Fetal Abdomen

8 Gastroschisis Defect of anterior wall Lateral to umbilicus
Bowel loops float in amniotic fluid Cord separate Contrast the findings of Omphalocele with the findings of gastroschisis as seen on this line diagram. Also a defect in the anterior abdominal wall, this defect however occurs lateral to the umbilicus. Bowel loops are noted to be free floating within the amniotic fluid. The cord has a separate, but normal insertion into the anterior bowel wall and there are no membranes covering the intestinal content.

9 Gastroschisis Lobulated echogenic mass
Free floating loops of bowel in the amniotic fluid Abdominal Contents Fetal Abdomen Here, ultrasonographically we have a demonstration of gastroschisis. A lobulated echogenic mass representing abdominal contents as indicated by the arrows, a normal insertion of the umbilical cord into the apex of the fetal abdomen and free-floating loops of bowel in the amniotic fluid. Umbilical Cord

10 Normal UGI, Small Bowel Small bowel distributed throughout the abdomen primarily to the left Let’s talk a little bit about abnormalities of the small bowel and how they might be imaged. On this normal upper GI examination, we note the small bowel is distributed throughout the abdomen primarily in the center and left portions.

11 Mid-gut Malrotation Barium UGI Stomach normal position
Small bowel completely on right side of abdomen Contrast the normal with this individual with a midgut malrotation. In this individual on the barium upper GI examination we note that the stomach is in a normal position, but that the small intestine is crowded entirely on the right side of the abdomen. Conversely the unopacified area in the left abdomen represents the colon

12 Normal Barium Enema Normal colon frames the margins of the abdomen
Here we see a normal barium enema examination where the 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 Contrast the normal barium enema to this finding of the midgut malrotation. In this case on the barium enema examination we note that the colon is located entirely on the left side of the abdomen. We also note that gas within small intestine is noted on the right. This is the same patient that we saw on the earlier case of malrotation.

14 Duodenal Atresia Plain film upright abdomen “Double bubble” sign
Air distended stomach and proximal duodenum Atresia involves second portion of the duodenum Duodenal atresia is another entity that can be demonstrated by the use of imaging techniques. In this case we identify the presence of two air collections or a “double bubble” sign on the frontal abdomen. Air is within the distended stomach and also within the distended proximal portion of the duodenum. An intrauterine event having led to an occlusion 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 I’d like to talk a little bit next about skeletal development of the long bones as detected by imaging. Recall that the diaphyses of long bones are ossified at birth. I am referring to the shafts of the long bones such as femurs, lower legs, humeri and forearms. The epiphysis at birth will be radiolucent cartilage except for the distal femoral epiphyses which should begin to calcify about the time of birth. The remainder of the epiphyseal ossification centers will develop 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 The physis represents a cartilaginous plate that exists between the EOC and metaphysis. It is responsible for growth bone length. When this ossifies or closes, longitudinal bone growth will stop. Until this takes place, additional bone growth can be anticipated. The physis represents a weak point and therefore is subject to possible disruption and fracture under stressful situations. We will talk with a little bit more about that when we talk about fractures. The metaphysis represents the area of active bone formation. This occurring via formation and calcification of osteoid being laid down at the physis

17 Bone Growth Abnormalities
Cartilage growth deficiency Example: Achondroplasia Ossification growth deficiency Example: Osteogenic imperfecta Metabolic defect Example: Hypophosphatasia A variety of bone growth abnormalities can detected by imaging. Cartilaginous growth deficiency can be demonstrated by achondroplasia, the achondroplastic dwarf that I am sure you have at various times have identified on the street. Ossification growth deficiencies can also be detected such as osteogenesis imperfecta. Individuals present with blue sclera, a defect of bone formation having very soft fragile bones who may be born with multiple healed or healing fractures. Sometimes we can actually detect this intrautero. A variety of metabolic defects for example, hypophosphatasia and hyperparathyroidism and others can also lead to bone growth changes

18 Osteogenesis Imperfecta
Deficient peri- and endosteal ossification Multiple fractures Healing with deformities of bones Limb shortening Here is imaging of an individual with osteogenesis imperfecta. Because of the deficient peri and endosteal ossification process, this individual has soft bones subject to frequent fractures and considerable bowing of both femurs noted here as result of multiple fractures in various stages of healing. The healing takes place in these individuals with considerable deformity. They tend to have considerable limb shortening as well

19 Achondroplasia Dwarfism Deficient cartilage growth
Lower limbs with ruler to measure leg length Short limb bones with flaring metaphyses In another individual with dwarfism, an achondroplastic dwarf, we identify a process of deficient cartilaginous growth. These individuals are having their lower limbs measured in order to measure leg length. On this particular image the appearance of achondroplasia includes flaring of the metaphysis with short length to the long bones.

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 The cardiovascular system is also subject to a variety of developmental abnormalities that can be detected by imaging. These include such things as congenital heart disease, including intracardiac septal defects, ventricular septal defect, atrial septal defects, cardiac cushion defects, patent ductus arteriosus the tetralogy of Fallot and ventricular septal defect with pulmonary stenosis, overriding aorta and right ventricular hypertrophy representing the four components of the tetralogy. Endocardial cushion defects I mentioned just a moment ago, pulmonary stenosis and a variety of congenital vessel anomalies may also be detected by imaging techniques, including such entities as coarctation of the aorta and 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 Let’s review for a moment, normal cardiac anatomy. Recall that the right heart border in its upper portion is made up of the superior vena cava and the ascending aorta is indicated by the subsequent arrows. The lower portion is made up of the borders of the right atrium that typically are not seen extending beyond the margin of spine. The left heart border in its upper aspect is made up of the aortic arch. Just beneath the aortic arch there is a concavity representing the aortic pulmonary window. This area is an area we look at for the development of adenopathy in the presence of lymphoma and metastases. The midportion of the left border, the second convexity represents the main pulmonary artery and the lower portion is made up of, first the left atrium and the lowermost aspect, the 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 Similarly on lateral projection we can identify the various portions of the cardiac silhouette. The anterior heart border being made up in its upper aspect by the aortic arch, in its midportion the origins the main pulmonary artery and finally the right ventricle just beneath the sternum. The posterior cardiac border being made up in its upper aspect by the left atrium and in its inferior aspect the left ventricle and finally, with a concavity directed posteriorly, the inferior vena cava as it arises from the posterior abdominal cavity and moves anteriorly to join into the right atrium.

23 Atrial Septal Defect Increased pulmonary vascularity Small aortic arch
Large main pulmonary artery Right atrial and ventricular hypertrophy Let’s look at an atrial septal defect case. In this case there is increased pulmonary vascularity as a result of the atrial septal defect and diversion of left atrial blood into the right atrium. Also note a small aortic arch for the same reason. A portion of blood destined for the systemic circulation is being diverted through the atrial septal defect into the pulmonic circulation. Similarly a large main pulmonary artery is the result of the increased blood flow into the right atrium and ventricle. Finally the right atrial contours and the ventricular contours demonstrate the presence of hypertrophy and are increased in size as result of the increased blood flow into these chambers.

24 Tetralogy of Fallot “Boot-shaped” heart
Pulmonic stenosis (infundibulum) VSD Right ventricular hypertrophy Overriding aorta Pulmonary circulation decreased Another individual, in this case, demonstrating a patient with tetralogy of Fallot. Tetralogy of Fallot, sometimes described as having a radiographic appearance of a boot-shaped heart is made up of pulmonic stenosis at the infundibulum, ventricular septal defect, right ventricular hypertrophy and an overriding aorta. This combination supports life but with significant issues with blood aeration as the pulmonary circulation is decreased in these individuals

25 Renal Abnormalities Anomalies in size and form Anomalies in position
Horseshoe kidney Anomalies in position Malrotation Ectopia Anomalies in structure Polycystic kidney Anomalies of drainage system Duplicated kidney, ureter We are able to evaluate a number of renal abnormalities using imaging techniques including ; anomalies in size and form including such things as horseshoe kidney, anomalies in position including malrotations and ectopia, anomalies in structure including polycystic kidney disease and anomalies of the draining system including duplication of portions or all of the kidneys and duplications of the ureters.

26 Normal Kidney Intravenous urogram
Opacification of collecting systems and ureters The iodine contrast material is excreted by the kidneys allowing us to opacify the renal collecting system, pelvis and ureters and portions of the bladder

27 Duplication of Kidney Both kidneys with 2 collecting systems
Right and Left upper system dilated Lower units smaller Ureters join before bladder When we are evaluating this patient with a duplicated kidney we note that both kidneys have two separate collecting systems as indicated by the three arrows on the right and the two arrows on the left. We also note that the right and left upper systems are dilated in this instance. This as the result of partial obstruction which is typical of this type of situation. Also note that the lower units are somewhat smaller than the upper units. The ureters which are duplicated are noted to join in both cases before reaching the bladder. As indicated by the arrows.

28 Horseshoe Kidney Horseshoe kidney Joined at inferior aspect
Moderate hydronephrosis Here is an example of an individual with a horseshoe kidney. We have outlined the kidney for you. Note that the lower poles are connected. Joining at the lower pole is a very typical finding in the horseshoe kidney. Also note moderate hydronephrosis as a result of partial obstruction to the outlet of both kidneys.

29 Horseshoe Kidneys Axial images demonstrate kidneys joined across the midline anterior to the aorta and inferior vena cava CT scanning can also be useful in evaluation for horseshoe kidneys. In this axial image we demonstrate the kidneys joined across the midline anterior to the aorta and inferior vena cava. This is best seen on the third picture in the lower aspect of your image.

30 Pelvic Kidney AP tomogram Both kidneys in the pelvis
Pelvic kidneys can be identified by a variety of techniques including ultrasound, x-ray, intravenous urography, and CT scanning. In this AP tomogram in the pelvic region both kidneys are noted to be in the pelvis. We would need history in this individual to make sure that a double kidney transplant into the pelvis has not been performed

31 Polycystic Kidneys Axial scan with contrast Enlarged lobulated kidneys
Multiple cysts Varying size Polycystic renal disease can be demonstrated by variety of imaging techniques including CT scanning. In this contrast enhanced axial scan we identify large lobulated kidneys with multiple low-attenuation areas present in both kidneys representing the presence of numerous cysts. Within the kidneys these cysts vary in size there is some stool functioning kidney present as we note the collection of contrast material within the collecting system.

32 CT Multiple Cysts Multiple Renal Cysts
In another patient we note multiple, not as numerous, but multiple cysts involving both kidneys. There is a variety of size and locations as easily discerned on the CT scan.

33 CT Renal Cysts In an additional patient we also note, a different appearance to renal cysts, including renal cysts which are incorporated into the peripelvic region as seen at the black arrow. These can sometimes be identified on the intravenous urogram, by their impression upon the adjoining collecting system.

34 Ultrasound Renal Cyst Renal ultrasound is one of the tools for evaluating for renal cysts. On these examples a single peripelvic cyst and a peripheral cyst are demonstrated by the dark areas arising within the central portion of the kidneys and on the periphery.

35 Renal Abnormalities Hydronephrosis
Hypoechoic (Dark areas) Thinning of renal cortex indicates long standing process In another individual we demonstrate the presence of hydronephrosis. The dark areas representing a dilatation of the renal collecting system and calyces. There is thinning of the renal cortex indicating that this is a long-standing process causing the destruction of the overlying renal cortex.

36 Hydronephrosis Massive Hydronephrosis
In our last slide we see massive hydronephrosis involving both kidneys in an individual as seen both on the longitudinal scan as well as an axial or cross section through the kidneys where we can see the renal pelvis distended as well as the dilated calyces.

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