Abnormal Fetal Chest, Abdomen, and Pelvis

Gastroschisis

Membrane-free ventral wall defect with protrusion of abdominal contents lateral to umbilical cord

Hirschsprung disease

Congenital lack of nerves in the colon

What does hirschsprung disease cause?

Fecal impaction and a megacolon

Hydrops

Accumulation of fluid in fetal tissue, peritoneum, and pleural cavities

Meconium ileus

Bowel obstructed by mucus

Midgut volvulus

Bowel obstructed due to bowel twisting

Congenital clavicle anomalies can include absent or short clavicles that are associated with:

• Cleidocranial Dysplasia

• Holt-Oram Syndrome

Cleidocranial Dysplasia

Abnormal fontanel closure

• protruding mandible

• frontal bossing

• hypertelorism

• cleft palate

• short stature

• scoliosis

Holt-Oram Syndrome

• Autosomal dominant

• Thumb and clavicle absence

• UE anomalies

• CHD

Pleural Effusion AKA:

Hydrothorax

Pleural Effusion

Accumulation of fluid in pleural cavity

What is the most common type of hydrothorax?

Chylothorax

Chylothorax

• Rt sided lymph fluid collection

• Polyhydramnios due to esophageal compression

Immune cause of pleural effusion:

Rh hemolytic disease

Non-immune causes of pleural effusion:

• CHF

• CHromosoma anomaly

• CCAM/CPAM Bronchopulmonary sequestration

• CDH

• hamartoma

• PV atresia

• lymphangiectasis

Pleural Effusion U/S appearance:

• lung “floats” in fluid

• possible shift of mediastinal structures

  • compression of heart

  • diaphragm inversion

• lung compression

  • leads to pulmonary hypoplasia

What is the prognosis of pleural effusion?

• poor w/ hydrops

• 50% mortality d/t pulmonary hypoplasia

What treatment can help pleural effusion prognosis?

insertion of thoracoamniotic shunts → allows for lung growth in 2nd trimester (must be placed by 32 wks)

Pulmonary Hypoplasia

Decreased overall lung size → small inadequate underdeveloped lungs

Causes of pulmonary hypoplasia:

• prolonged oligohydramnios

• small thorax (constriction)

• severe FGR

• PROM

• kidney malformations

• Intra-thoracic masses

• CDH

• cardiac defects

• skeletal dysplasia

• chromosomal anomalies

Pulmonary hypoplasia prognosis:

Poor → 80% mortality rate after birth

How do we diagnose pulmonary hypoplasia?

Thoracic measurements & lung volumes that measure <5%ile

Pulmonary Sequestration

• Extra lobe of the lung separated from the normal tracheobronchial tree

• Non-functional tissue with systemic blood flow (thoracic aorta & IVC)

Pulmonary Sequestration signs / appearance:

• dense solid mass usually in lower lung lobes

• can resemble CCAM / CPAM

• hypoplastic lung on affected side

• hydrops

what are findings associated with pulmonary sequestration?

• CDF

• GI & Lung anomalies (hypoplasia)

Intralobar Pulmonary Sequestration

• Present in pleural lung sac

• spherical in shape

• favorable prognosis

Extralobar Pulmonary Sequestration

• inferior border of lung has its own pleural sac

• left sided more common

• cone / triangular shape

• can be located below diaphragm

• poor prognosis → hydrops

CCAM / CPAM

• Congenital Cystic Adenomatoid Malformation

• Cystic Pulmonary Airway Malformation (CPAM)

CCAM / CPAM

Multicystic mass within lung made up of primitive lung tissue and bronchial-type structures

What causes CCAM?

Bronchopulmonary foregut malformation

A bronchopulmonary foregut malformation is described as:

An embryologic alteration in lung development at approx 8 weeks GA

What is CPAM assictaed with?

• can involve ≥1 lung lobes

• rarely bilateral

• mass can communicate w/ bronchial tree

Type 1 CCAM / CPAM

• 1 or more large macrocystic cysts (>2 and up to 10 cm)

  • replace normal lung tissue

• favorable outcome

Type 2 CCAM / CPAM

• Multiple cysts <1cm

• macrocystic w/ microcystic component

• poor prognosis

Type 2 CCAM is associated with:

• chromosomal anomaly

• renal agenesis

• pulmonary anomalies

• CDH

Type 3 CCAM / CPAM

• microcystic, large, noncystic lesion

• entire lobe is echogenic

• poor prognosis

Type 3 CCAM associated findings:

• lung compresssion

• hydrops

• polyhydramnios

Abdominal Ascites

• fluid in the peritoneum

• ALWAYS abnormal

• commonly seen w/ hydrops but can be isolated

The potential causes of abdominal ascites are:

• bowel perforation

• urinary ascites from bladder outlet obstruction

Congenital Diaphragmatic Hernia (CDH)

• herniation of abdominal viscera into chest

• rarely bilateral

CDH of Left Side

• 90% posterior/lateral left side

• allows left sided organs to enter chest thru opening

• 2/3 have portion of liver herniated = poor prognosis

How does left-sided CDH present?

• heart shifted to right

• small bowel and colon can be present (collapsed difficult to see)

• small compressed lungs

CDH of Right Side

• Anterior / Medial through the Foramen of Morgagni

• Can communicate w/ pericardial sac

Right sided CDH appears on ultrasound as:

• liver in chest

• collapsed bowel

• heart located to the far left of chest

• stomach below diaphragm but located to right

• gallbladder may be visualized → appears as thoracic cyst

What are the complications associated with CDH?

• pulmonary hypoplasia

• PHTN d/t thick hypertrophied PA’s

CDH prognosis:

• associated w/ Trisomy 18 and 21

• 20% association w/ cardiac defects

• 30% CNS malformations

• renal anomalies

• vertebral defects

• facial clefts

At 20 weeks or less, the renal pelvis should measure:

5mm or less

At 20-30 weeks, the renal pelvis should measure:

8mm or less

From 30 weeks to term, the renal pelvis should measure:

10mm or less

Hydronephrosis

• Occurs due to blockage at some level in urinary system

• urine backs up into kidney

How does hydronephrosis appear on ultrasound?

• dilated renal pelvis communicates w/ calices

• pyelectasis = renal pelvis 5-9 mm

• hydro = renal pelvis >10-15 mm

• unilateral or bilateral

What is the most common fetal anomaly?

hydronephrosis

Renal Agenesis

Congenital absence of one or both kidneys (commonly males)

Renal Agenesis appears on ultrasound as:

• kidneys / bladder absent on US

• severe oligohydramnios or anhydramnios

• Check for Renal Artery flow w/ PD

What is the prognosis for bilateral renal Agenesis?

Incompatible with life

Unilateral Renal Agenesis

• more common

• Present may be larger than normal

• Usually normal AFV

What organ takes the place of the absent kidney in the fossa?

Adrenal gland

Associated findings of Renal Agenesis:

• cardiac defects

• Sirenomelia

• Absent radius and fibula

• Digit anomalies

• Sacral Agenesis

• CDH

• Cleft palate

• Hydrocephalus

• Menigocele

• Cephalocele

• Holoprosencephaly

• Microcephaly

• Duodenal atresia

• Imperforate anusu

• Tracheoesophogeal fistula

• Omphalocele

Why may renal Agenesis associated anomalies be hard to visualize?

Due to anhydramnios

Sirenomelia

• mermaid syndrome

• Lower extremities fused together

• Large association w/ renal Agenesis

Potters Syndrome AKA:

• Potter’s Sequence

• Oligohydramnios sequence

Potters Syndrome

Describes the typical appearance of fetuses who have oligohydramnios or anhydramnios secondary to renal anomalies

Potters Syndrome is associated with:

• renal Agenesis

• Oligohydramnios

• Pulmonary hypoplasia

• Abnormal faces

• Malformed hands and feet

What are the four types of Cystic Dysplastic Kidney Disease?

1. Infantile Polycystic Kidney Disease

2. Multicystic Dysplastic Kidney ( MDK)

3. Autosomal Dominant Polycystic Kidney Disease

4. Cystic Renal Dysplasia

What are the most common types of Cystic Dysplastic Kidney Disease?

Types II and IV

Infantile Polycystic Kidneys (IPKD)

• autosomal recessive

• Symmetric kidney enlargement

• Most severe cases = renal failure

Infantile Polycystic Kidney U/S appearance:

• echogenic parenchyma

• Small / absent bladder and oligohydramnios

• Kidneys become so large they fill entire abdomen

What is the most common form of cystic renal disease in childhood?

Multicystic Dysplastic Kidneys

Multicystic Dysplastic Kidneys

Multiple smooth walled non-functional, non-communicating cysts varying in size and number

Multicystic Dysplastic Kidneys US appearance:

• renal tissue replaced by cysts

• Renal A may be hypoplasia or absent

• Bilateral Multicystic = oligohydramnios and absent bladder = lethal

• Unilateral = normal AFV and bladder

Adult Dominant PCKD

• Bilateral cystic dilation of the nephrons

• autosomal dominant

What are the signs and appearance of adult dominant PCKD?

• enlarged echogenic kidneys → usually no cysts

• Bladder WNL

• Normal AFV

• Almost 100% bilateral

Obstructive Cystic Dysplasia

Renal dysplasia secondary to obstruction in the first or early second trimester

Obstructive Cystic Dysplasia U/S appearance:

• Echogenic kidneys with cortical cysts

• Bilateral

• Keyhole bladder

• Hydronephrosis

• thick-walled bladder

• severe oligohydramnios

Utteropelvic Junction (UPJ) Obstruction

• Unilateral

• Normal AFV

• Urinoma, urinary ascites

What is the most common cause of hydronephrosis?

UPJ obstruction

Uterovescical Junction (UVJ) Obstruction

• Dilation of lower end of the ureter

• stenotic ureteral valve

• Dilated renal pelvis & tortuous dilated ureter

Posterior Urethral Valves (PUV’s)

• Bladder outlet obstruction caused by membrane in posterior urethra

• MALES

What is the ultrasound appearance of PUV’s?

• Thick walled bladder

• Dilated posterior urethra

• keyhole sign

• hydrureter

• hydronephrosis

• oligohydramnios

• hypoplastic lungs

Prune Belly Syndrome AKA’s:

• Urethral Obstruction Malformation complex

• Eagle-Barret Syndrome

• Triad Syndrome

Prune-Belly Syndrome

The triad of urinary tract dilation, a deficiency of the abdominal wall musculature, and a failure of testicular descent

What are findings associated with Prune Belly Syndrome?

• distended abdomen

• oligohydramnios

• mild-severe hydronephrosis

• ascites

• hypoplastic lungs

• cryptorchidism

• agenesis of abd wall musculature

• mega ureter

• bladder outlet obstruction

Situs Invertus

• Can be total or partial reversal of thoracic and abdominal organs

Partial Situs Invertus

• More severe than total

• Stomach may or may not be reversed

What are the two types of partial situs invertus?

1. Asplenia

2. Polysplenia

Partial Situs Inversus Asplenia

• Normal position of Liver and Gallbladder

• Absent spleen

• Displaced Aorta and IVC

• 99% have cardiac anomalies

• 90-95% mortality

What are the cardiac defects associated with Partial Situs Invertus Asplenia?

• Endocardial cushion defects

• Hypoplastic Left Heart

• TOGV

Partial Situs Inversus Polysplenia

• More than one spleen

• Transposition (inversion) of liver and stomach

• No gallbladder

• IVC disruption

What are associated findings of Partial Situs Inversus Polysplenia?

• Heart blocks

• 90% have cardiac anomalies

• 80% mortality rate

Total Situs Inversus

• Usually normal outcome

• Rt sided heart axis and aorta

• transposition of liver, stomach, and spleen

• left sided GB

What is Total Situs Inversus associated with?

• 20% have Kartageners Syndrome (affects lungs)

• GI, GU anomalies and NTD

Esophogeal Atresia

Congenital blockage of esophagus

Esophageal Atresia is associated with:

• Polyhydramnios & absent stomach

• 50% have fistula

• 50-70% have anorectal atresia

• 40% IUGR

• Associated with Trisomy 18 and 21

What are the VACTERALS associated with esophageal atresia?

• Vertebral defects

• Anal atresia

• Cardiac defects

• Tracheo-Esophageal fistual

• Renal anomalies

• Limb and Spinal anomalies

Duodenal Atresia

• Blockage of duodenal lumen by membrane

• Prohibits passage of swallowed amnionic fluid

• Fluid backs up in duodenum and stomach

• Double Bubble Sign

What congenital disorder is associated with duodenal atresia?

Trisomy 21

Duodenal Atresia U/S appearance:

• 2 anechoic structures in upper abdomen

• polyhydramnios

• cardiovascular anomalies

• horseshoe kidneys, ectopic kidneys

• Imperforate anus

• Atresia of small bowel

• Esophageal atresia

• Symmetric FGR

• AFP in amniotic fluid d/t ↓ swallowing

What is the earlist manifestation of cystic fibrosis in some patients?

Meconium Ileus

Meconium Ileus

• Small bowel disorder → presence of thick meconium

• occurs in newborns w/ cystic fibrosis

What is meconeum ileus associated with in newborns w/ cystic fibrosis?

• pancreatic disease

• respiratory problems