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FETAL ANOMALY SCAN

[PART TWO]

BY-DR. SAHIL CHAUDHRY


MODERATOR-DR.GURURAJ SHARMA
AJIMS MANGALORE

INTRODUCTION
Chest
Gastrointestinal tract
Urinary tract

CHEST

Axial view of the thorax: 4chamber view. In this view,


the two lung fields (L), the
heart, and the descending
thoracic aorta
(arrow) behind the left atrium
are visible. Laterally, two
complete ribs
are evident (arrowheads);
posteriorly, one thoracic
vertebra can be
seen. The cutaneous outline,
outside the ribcage, is also
evident.

The reference to cardiac position and situs is identified by noting the left atrium lies posteriorly, closest to the
spine, and the right ventricle lies anteriorly, close to the chest wall

Normal appearance of fetal thymus (arrowheads)at 37 weeks gestation.


Coronal T2-weighted MR image shows normal lungs and diaphragm at 37 weeks.
I, Axial T2-weightedimage of thymus (arrows) anterior to heart. The thymus is relatively hypoechoic to the
surrounding lungs on ultrasound and relatively low intensity on MR

The normal thymic average transverse measurement is


12 mm at 19 weeks gestation and 33 mm at 33 weeks.
The normal thymic average perimeter is 128 mm at 38
Weeks.
Acute fetal thymic involution has been reported
in association with chorioamnionitis
Prenatal identification and measurement of the
fetal thymus is important when DiGeorge syndrome is
Suspected(E/O CLEFTING WITH TOF)

PULMONARY HYPOPLASIA
Pulmonary hypoplasia (PH) refers to deficient or incomplete development of parts
of the lung. It can develop as a result of a number of other in-utero anomalies.
There are several key factors required for the adequate development of the lung.
These are:
sufficient amniotic fluid volumes
adequate thoracic space-size
normal breathing movement
normal fluid within the lung
A deficiency in any of these could lead to pulmonary hypoplasia.

Most cases of pulmonary hypoplasia are secondary to other congenital anomalies or


pregnancy complications. Some cases however can occur as a primary event.
Intra-thoracic causes include:
congenital diaphragmatic hernia: most common intrathoracic cause
extralobar sequestration
agenesis of the diaphragm
mediastianal mass
decreased pulmonary vascular (arterial) perfusion:
from a congenital cardiovascular anomaly: e.g tetralogy of Fallot
unilateral absence of the pulmonary artery

Extra-thoracic causes include:


oligohydramnios: and its causes
Potter sequence: fetal renal anomalies
preterm premature rupture of membranes (PPROM)
skeletal dysplasias: especially those causing a narrow fetal thorax
large intra-abdominal mass compressing the thorax
neuromuscular conditions interfering with fetal breathing
Other associations include:
Fryns syndrome
Meckel Gruber syndrome
Neu-Laxova syndrome
Pena-Shokeir syndrome

CONGENITAL PULMONARY AIRWAYS


MALFORMATION (CPAM)
A congenital pulmonary airways malformation (CPAM) is a multicystic mass of segmental lung
tissue with abnormal bronchial proliferation . CPAMs are considered part of the spectrum of
bronchopulmonary foregut malformations and until recently were described as a congenital cys
tic adenomatoid malformation (CCAM).
Five subtypes are currently classified, mainly according to cyst size.
type I
most common,one or more dominant cysts: 2-10 cm in size,may be surrounded by smaller cysts
type II
15-20% of cases,cysts are <2 cm in diameter
associated with other abnormalities
renal agenesis or dysgenesis
pulmonary sequestration
congenital cardiac anomalies

type III
~10% of cases,microcysts: <5 mm in diameter
typically involves an entire lobe,has a poorer prognosis
Lesions are usually unilateral and involve a single lobe. Although there is no welldocumented lobar predilection, they appear less frequently in the middle lobe
Associations
hybrid lesion: e.g. CPAM and pulmonary sequestration
renal agenesis

A, Axial sonogram at 28 weeks shows a homogeneously echogenic mass (calipers) in the midleft
hemithorax with no large cysts or feeding vessels. There is mild mediastinal shift to
the right.
B, Axial sonogram of right-sided CCAM (arrow) at 20 weeks with small cysts, the largest of which is
8 mm (arrowhead). There
is moderate mediastinal shift to the left
C, Sagittal oblique sonogram shows CCAM everting the hemidiaphragm (arrow).

D, Transverse view of chest with CCAM containing small cysts and mild mediastinal shift.
E and F, Axial and oblique coronal images at 25 weeks in a
macrocystic CCAM (arrow) with eversion of the hemidiaphragm, trace ascites (arrowhead), and severe
mediastinal shift with compression
of the heart (HT)

D/D

Congenital lobar
emphysema.

BRONCHOPULMONARY SEQUESTRATION
Refers to aberrant formation of segmental lung tissue that has no connection with the
bronchial tree or pulmonary arteries. It is a
bronchopulmonary foregut malformation (BPFM).
Intralobar sequestrations
venous drainage commonly occurs via the pulmonary veins, but can occur through the
azygous/hemi-azygous system, portal vein, right atrium or the IVC
closely connected to the adjacent normal lung and do not have a separate pleura
Extralobar sequestrations
venous drainage most commonly through the systemic veins into the right atrium
separate from any surrounding lung with its own pleura
Overall, sequestration preferentially affects the lower lobes. 60% of intralobar
sequestrations affect the left lower lobe, and 40% the right lower lobe. Extralobar
sequestrations almost always affect the left lower lobe, however approximately 10% of
extralobar sequestrations can be sub-diaphragmatic

FEEDING VESSEL SIGN

CONGENITAL HIGH AIRWAYS


OBSTRUCTION SYNDROME
Congenital high airways obstruction syndrome (CHAOS) refers a rare often lethal
congenital laryngo-tracheal condition and is primarily characterised by
obstruction to the fetal upper airway.
A CHAOS can be of 3 possible types :
complete laryngeal atresia without an oesophageal fistula
complete laryngeal atresia with a tracheo-oesophageal fistula
near-complete high upper airway obstruction

diffusely enlarged, echogenic lungs bilaterally with eversion of the hemidiaphragms

CONGENITAL
DIAPHRAGMATIC HERNIA
Diaphragmatic development is usually complete by ~9th week of gestation.
Congenital diaphragmatic hernias result from failure of fusion of one of the
pleuroperitoneal canals at about 8 weeks gestation. They may contain stomach,
intestines, liver or spleen.
Congenital diaphragmatic herniation can be classified into two basic types on
location:
Bochdalek hernia
most common foetal congenital diaphragmatic hernia,commoner on the left: 7590%
Posterolateral,presents earlier
Morgagni hernia
less common,anterior.presents later

Compression of the heart, impaired swallowing, and partial obstruction of the


gastrointestinal tract lead to polyhydramnios, which is present in up to 69% of cases,
particularly late in gestation (by the third trimester)
Sonographic findings that should prompt a search for CDH include :
polyhydramnios
cardiomediastinal shift
inability to demonstrate the normal stomach bubble
absent bowel loops in the abdomen
intra-thoracic herniation of the liver; noted in up to 85% of cases and is associated
with a worse prognosis
Left-sided CDH
stomach and small bowel (echo-free) at the same transverse level as the heart on fourchamber view: this makes left sided hernias comparatively easier to detect on
ultrasound (as opposed to herniaion of echogenic liver on the right side)
stomach and small bowel superior to the inferior margin of the scapula
leftward displacement of the gallbladder

A, Axial view of chest at 28 weeks gestation shows the stomach (arrow) in the chest with mediastinal
shift to the right.
B, Coronal image in a different fetus at 28 weeks shows a slightly
distended stomach (arrow) in the chest.
C, Oblique sagittal image shows a large amount of liver (Li) in the chest.

D, Axial view of abdomen shows abnormal course of umbilical vein (arrowhead) resulting from the liver herniation
into the
chest.
E, Oblique axial view of chest shows kinked hepatic vessels.
F, Axial view in the right lower quadrant shows the associated polyhydramnios
complicating the pregnancy in the same fetus.

RIGHT SIDED CDH

EVENTRATION

EFFUSIONS

EXIT

GIT

ABDOMINAL VIEWS
axial view of the upper abdomen:
the stomach is visible onthe left, the right
hepatic lobe on the right, and the intrahepatic
tract of
the umbilical vein on the midline.
(b) Axial view of the lower abdomen
(ventral approach): the bowel (ileus and
jejunum) and a small segment
of the umbilical vein (arrow) are visible

mid-sagittal view of the abdomen: cord


insertion and rectal pouch in the pelvis
(a) Midsagittal view of the abdomen: the
cord insertion, highlighted by power
Doppler, and part of the small bowel
(arrowhead)are visible.
(b)the bladder and, behind it, the
rectalpouch (arrow).
Right parasagittal view of the abdomen:
the righthepatic lobe (Li), just below the
hypoechoic layer of the
diaphragm(arrowheads) and some ileal
loops are visible. RL, right lung.

ESOPHAGUS
Ultrasound appearance of the esophagus is a
pouch full of amniotic fluid, especially if the
fetus has just swallowed
Can be recognized as a thin prevertebral
anechoic structure, when filled with some
amniotic fluid.(may resemble a vessel)
Also on the 4-chamber view, the crosssectional appearance of the esophagus
distended by some amniotic fluid may be
mistaken for that of an abnormal vessel, as in
abnormal pulmonary or systemic (azygos
continuation) venous return.
when empty appears as two or more parallel
echogenic lines.

ESOPHAGEAL ATRESIA
In esophageal atresia, the communication between the proximal and the distal
tract of the esophagus is absent, due to a lack of development of the
intermediate esophageal portion, mainly because of an interruption of the blood
supply during organogenesis.
Diagnosis. Non-visualization of the gastric bubble, relatively late-onset
polyhydramnios. In some of the cases associated with a TE fistula, a constantly
small stomach. Inconstantly, an upper esophageal pouch (pouch sign).
Risk of chromosomal anomalies. High (2044%): trisomies 21 and, to a lesser
extent, 18.
Risk of non-chromosomal syndromes. Relatively high: VA(C)TER(L).
Outcome. Generally good, but depends mainly on the extent of the atretic tract.

Esophageal atresia can occur as an isolated anomaly (10% of cases) or, much
more frequently, be associated with a tracheoesophageal (TE) fistula (90% of
cases)
Etiology and pathogenesis.
It originates when, at 8 weeks of gestation, the primitive foregut does not divide
into the ventral tracheobronchial part and the dorsal digestive part
Type A: Corresponds to pure esophageal atresia without fistula.
Type B: is esophageal atresia with fistula between the proximal pouch and the
trachea.
Type C: is esophageal atresia and fistula from the trachea or the main bronchus
to the distal esophageal segment. (most common)
Type D: is esophageal atresia with both proximal and distal fistulas
Type E: is tracheoesophageal fistula without atresia.

Ultrasound diagnosis
More than 85% of cases of esophageal atresia are not detected in utero due to the existence of
a concurrent TE fistula: this fistula aids normal stomach filling in most instances, and only in a
reduced number of cases is a constantly underfilled stomach found.
Pouch sign: dilatation of proximal esophageal tract.
This sign is observed transiently also in the normal fetus after swallowing; in fetuses with a
small stomach and polyhydramnios, the detection of a persistent pouch sign would indicate
the likely presence of a TE fistula.
non-visualization of the gastric bubble is the only sign if present is highly indicative of
esophageal atresia (but only in the 810% of cases that are not associated with a TE fistula.
The other sign possibly indicative of esopheagal atresia is polyhydramnios, which becomes
clearly evident only in the late 2nd trimester
FGR : 40% of cases of TE fistula
Downs syndrome 50 percent association with Type A

23 weeks

30 weeks

Differential diagnosis.
This includes all conditions possibly associated with non-visualization of the
gastric
Bubble .
severe oligohydramnios(and consequent lack of amniotic fluid ingestion)
in the case of premature rupture of membranes or bilateral renal agenesis;
FADS( fetal akinesia deformation sequence) and related syndromes; diaphragmatic
hernia; and cleft lip/palate.
Association with other malformations in decreasing order, of GI (28%),
cardiovascular(24%), genitourinary (13%), and osteomuscular (11%) malformations.
Risk of chromosomal anomalies. This is high, reaching 2044% of cases in the fetus,
with a prevalence of trisomies 21 and 18.
Chromosomal syndromes
VA(C)TER(L) association: look for esophageal atresia (+ TE fistula) + vertebral
anomalies (scoliosis, hemivertebrae) + anorectal atresia + cardiac (ventricular septal
defect) + renal anomalies (dysplasia, ectopia, etc.) + limb anomalies (aplasia radii)

DUODENAL ATRESIA
Definition. In duodenal atresia, the tract between the proximal and distal portions of
the duodenum is atretic.In most cases (80%), the obstruction is due to complete
atresia. In the remaining 20% of cases, the obstruction can be due to a diaphragm or
membrane located within the lumen .
Diagnosis. Double bubble, with communication between the two parts; late
polyhydramnios.
Risk of chromosomal anomalies. High (2050%): mainly trisomy 21.

ULTRASOUND DIAGNOSIS
This is based upon recognition of the
classic double bubble, associated with
polyhydramnios,
which often develops in the late 2nd, early
3rd trimester. Usually, polyhydramnios is
absent and the double bubble the only
finding consists of an evidently dilated
stomach, with initial dilatation only of the
duodenum
Care should be taken in demonstrating a
communication between the two anechoic
bubbles, to obtain confirmation that the
second bubble is actually the dilated
proximal duodenum

ENTERIC DUPLICATION
CYST

CHOLEDOCHAL CYST

Differential diagnosis.
All other conditions featuring a cystic structure in the middle
or right upper abdomen : choledochal cysts, enteric
duplication cysts, and hepatic cysts.
Association with other malformations.
Mostly GI malformations , vertebral and cardiac upto 33%
Risk of chromosomal anomalies.
Overall, 40of cases of duodenal atresia are associated with
Down syndrome.

SMALL-BOWEL ATRESIA
Diagnosis. Severe late-onset dilatation of the ileal loops proximal to the obstruction. Lateonset polyhydramnios.
Types . Small-bowel atresia can be single or multiple.
It can be due to an intraluminal diaphragm or membrane (type I: 20% of cases)
or present as complete atresia of the affected segment. This can show a
fibrous string connecting the two blind-ending stumps (type II: 32% of cases)
Or complete separation of the two stumps without any fibrous connection
(type III: 48% of cases).
type IV (17% of cases), in which the atresia involves multiple sites

Ultrasound diagnosis :
Mainly on the detection of the dilatation of the intestinal loops
proximal to the obstruction, which is absent in most cases prior to
25 weeks of gestation.
polyhydramnios is also of late onset.
Hence, the first sonographic evidence of a possible small-bowel
atresia Is the isolated dilatation of an ileal loop, showing a
transverse diameter of greater than 7 mm.

Ileal atresias are more often single and show higher tendency to
perforation in utero
jejunal atresias are more often multiple, tend to dilate
rather than to perforate, and show a significantly lower
neonatal mean weight and less advanced gestational age at
delivery in comparison with ileal atresias.
20 wks

28 weeks

36 weeks

Jejunal atresia (37


weeks of gestation).
Note the extremely
severe dilatation
without evidence of
perforation (absence
of meconium
peritonitis). The
arrowheads indicate
the site of the
peristaltic wave,
opening and closing
the communication
between adjacent
loops

Differential diagnosis.
Hirschsprungs disease
Volvuluis
Meconeum ileus

The detection of intra-abdominal calcifications, possibly suggesting the presence of a


meconium ileus complicated by perforation and meconium peritonitis, represents one of the
most important poor prognostic signs.

MECONIUM ILEUS
Definition. Meconium ileus is characterized by an ileal
mechanical obstruction caused by inspissated meconium. The
meconium is thicker than normal due to a high protein content,
the primary cause of which is cystic fibrosis, associated with
most cases of meconium ileus.
This obstruction leads relatively often to ileal perforation and consequently
meconium peritonitis.
In somecases, the obstruction occurs more distally, in the colon, where the
meconium causes a mucus plug that obstruct the rectum.

Ultrasound diagnosis:
This is based upon recognition of an ileal obstruction, with one or
multiple dilated loops that characteristically show hyperechoic
content and similarly hyperechoic walls.
In meconium ileus, the obstruction is usually of late onset,
becoming evident in the late 2nd trimester, after 2425 weeks of
gestation
The ultrasound appearance is pleomorphic. The dilated ileal loops
may show hyperechoic content or, in other cases, meconium/fluid
levels; the walls may appear normal or thickened and hyperechoic.
Or show features of meconium peritonitis.

Meconium ileus. (a) At 29 weeks of


gestation, some ileal loops are dilated and
show hyperechoic walls (arrow). The
presence of
macrocalcifications (arrowheads)
demonstrates the perforation and the
consequent meconium peritonitis.
(b) Specimen after surgery.
(c) the presence of a secluded sac of
ascites containing meconium sludge
(arrow).
(d) Another case showing diffuse intraabdominal calcifications(arrows),
consistent with a diagnosis of meconium
peritonitis.
Differential diagnosis:
Small bowell atresias

ANORECTAL ANOMALIES
All of these are malformations causing distal obstruction of the GI tract.
Divided on the basis of their embryologic origin, into
the following:
external malformations, due to abnormalities of the development and fusion of the
external perineal layers,
Eg; imperforate anus with/without fistula
internal malformations, the developmental anomaly involves the primary partition of
the cloaca by the urogenital septum
Eg;pure rectal atresia and rectal atresia with fistula
mixed malformations,
Incidence. Extremely rare.

Diagnosis. Late-onset dilatation of sigmoid colon and rectum, often with


hyperechoic meconium. Normal amniotic fluid.
Risk of chromosomal anomalies. High: trisomies 18 and 21.
Risk of non-chromosomal syndromes. High: predominantly associated with
various expressions of the caudal regression sequence.
Of the above-mentioned malformations, only anorectal atresia is detectable
by ultrasound
The main ultrasound finding possibly indicative of such a malformation is
overdistension of the rectum and, to a lesser extent, of the sigmoid colon,
Relatively often, the mecoium in the dilated rectal pouch becomes hyperechoic.
The amount of amniotic fluid is unchanged.
If the anorectal atresia is associated with a rectovesical fistula, the amniotic fluid is
reduced..
If polyhydramnios is noted in association with anorectal atresia, this is due to the
associated anomalies.

Anorectal atresia. (a) Normal filling of the rectal pouch (arrow), behind the bladder (BI). (b)
Evident dilatation of the rectum, which also shows a hyperechoic content (arrows). (c) The
fetus after termination of pregnancy. In addition to other anomalies, anorectal atresia was
confirmed: the anal orifice is not visible

HEPATOMEGALY/SPLENOMEGALY
Wide spectrum of causes.
Intrauterine foetal infections: CMV infection, when severe, is commonly associated
with hepatosplenomegaly
Downs syndrome
rare benign and malignant hepatic tumors, such as hemangioma or hepatoblastoma,
Venous congestion as in cardiac or extracardac causes
BeckwithWiedemann and Zellweger syndromes, that can be associated with
hepatomegaly.
Gaucher and NiemannPick syndromes, which, in the late 3rd trimester, may lead to
splenomegaly.

This patient had serologically


confirmed hepatitis A.
Evident hepatomegaly, with
capsular macrocalcification and
moderate ascites.

OMPHALOCELE
Omphalocele is a defect in the closure of the abdominal wall that also involves
the cord insertion. The herniated organs are wrapped in a two-layered sac,
(peritoneum and the amnion).
Diagnosis. Round, solid mass that deforms the anterior abdominal
wall, may contain the right hepatic lobealong with some bowel
loops. The cord insertion is on the mass.
Risk of chromosomal anomalies. High: trisomies 18 and 13 and
triploidy.
Risk of non-chromosomal syndromes. Relatively high: Beckwith
Wiedemann, Pentology of Cantrell.

The cord insertion is located on the top of the sac


Two variants : presence or absence of the liver in the sac. Embryogentically different and have
different prognosis
Rupture of sac in 10 percent cases
Ultrasound diagnosis. An omphalocele is sonographically represented by a bulging
structure that
(i) arises from the anterior abdominal wall; (ii) contains some abdominal viscera (liver
and/or bowel); and (iii) presents the cord insertion on its convexity

The presence of the umbilical vein within the omphalocele is an indirect sign of
the fact that this anomaly represents a primary closure defect of the abdominal
wall
Ascites may be seen.
Polyhydramnios may be seen .
If the liver is detected within the omphalocele , the diagnosis is certain also early in gestation;
if, on the contrary, only some bowel loops are seen in it, care should be taken to differentiate a
real omphalocele from the physiologic herniation of the intestine within the cord that is
frequently seen until the 11th week of gestation.

The OEIS complex refers to the combined


occurence of:
An omphalocoele
Bladder exstrophy / cloacal exstrophy
An imperforate anus
And spinal anomalies: e.g
kyphoscoliosis
hemivertebrae

GASTROSCHISIS
Definition. Gastroschisis is characterized by a paraumbilical defect of the
abdominal wall through which bowel loops herniate to float freely in the
amniotic fluid
Incidence. Rare.
Diagnosis. Bowel loops freely floating in the amniotic fluid. Para-umbilical wall defect. Normal
cord insertion.
Risk of chromosomal anomalies. Very low.
Risk of non-chromosomal syndromes. Low. Concurrent joint contractures of the legs with
hypoplastic lower limb muscles indicate the presence of congenital amyoplasia.
Outcome. Very good, unless rare complications including perforation, infarction or infection
of the herniated loops occur.

The defect involves all the layers of the abdominal wall, and the herniated viscera consist, in the
overwhelming majority of cases, of bowel loops only; in very rare circumstances, the stomach
urogenital structures may herniate as well.
Ultrasound diagnosis.
the recognition of freely floating bowel outside the fetal abdomen is the main feature

URINARY TRACT
ANOMALIES

(a) Normal fetal


kidneys at 13 weeks of gestation.
At this stage, the kidneys appear
as bilateral hyperechoic
structures in the paravertebral
regions
(arrows).

(b) Normal fetal kidneys


at 18 weeks. The kidney
appears slightly hyperechoic
(arrows) compared with surrounding
tissues; the renal

Ultrasound appearance of the fetal kidney at 28 weeks of


gestation: the renal pyramids may be seen as hypoechoic structures
within the renal parenchyma; the renal pelvis may be seen as an echofree
area medially

Axial scan
through the fetal pelvis
showing
the bladder wall (arrows).

Color flow Doppler image showing


both perivesical arteries separating
around the bladder
(arrow).

RENAL AGENESIS
Definition. Renal agenesis is defined as complete absence of one or both kidneys (unilateral or
bilateral renal agenesis).
Incidence. Unilateral form: 1/1000. Bilateral form: 12/5000.
Diagnosis. Bilateral form(POTTER): lack of visualization of the kidneys and bladder associated
with severe oligohydramnios(after the 16th week). Unilateral form: lack of visualization of one
kidney, with normal bladder and amniotic fluid.
Risk of chromosomal anomalies. Low risk in isolated unilateral forms (< 1%); slightly higher in
isolated bilateral renal agenesis.
Risk of non-chromosomal syndromes. High: 2025%.
Outcome. Bilateral form: uniformly fatal. Unilateral form: good, if isolated

Ultrasound diagnosis. Sonographic diagnosis of bilateral renal agenesis is based on


the impossibility of visualizing the kidneys and the bladder, associated with severe
oligohydramnios after the 16th week of gestation

PKD

ABSENT RENAL
ART

RENAL ECTOPIA

Pelvic kidney. (a) Oblique scan through the fetal pelvis. The kidney (arrows) is seen within the pelvis,
lying superior to the bladder(BL).
(b) Color flow Doppler shows the pelvic kidney artery (arrow), which originates from the aorta at a more
caudal level than the contralateral
renal artery (RA).
(c) Crossed fused renal ectopia. Note the two fused kidneys (arrows); the lower pole of the upper one is
fused with the upper pole of the lower one.

HORSESHOE KIDNEY
Definition. The kidneys are fused, with an equal amount of renal
tissue on each side of the midline. The inferior poles of the
kidneys are linked by an isthmus of fibrous tissue or parenchyma.
The ureters do not cross the midline before entering the renal
sinuses.
Etiology and pathogenesis. Fusion anomaly .The anomaly
originates after the interaction of the ureteral buds with the
metanephric blastema, but before the migration and rotation
processes.
The horseshoe kidney is usually positioned lower than normal because its
ascent in the normal position is impeded by the emergence of the inferior
mesenteric artery
Outcome. In isolated forms, horseshoe kidney is asymptomatic in
about half of cases. Increased incidence of infections and vesico-

Ultrasound diagnosis. On transverse or oblique views of the fetal abdomen, the isthmus
connecting the inferior poles of the two kidneys can be seen in front of the descending aorta;
the kidneys appear medially and anteriorly rotated.
In this scanning plane, it is also possible to see the two renal pelvises , which have a more
anterior location and are often slightly dilated.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE


(ARPKD) POTTER TYPE I
Both kidneys are increased in volume and are hyperechogenic. The bladder cannot be
visualized, and severe oligohydramnios is present.

MULTICYSTIC DYSPLASTIC KIDNEY (MCDK) POTTER


TYPE II
Unilateral: the kidney is increased in volume, with multiple non-communicating cysts of variable
size; the parenchyma is hyperechoic; normal amount of amniotic fluid and bladder visualized.
Bilateral: same as above + severe oligohydramnios and inability to visualize bladder.

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE


(ADPKD) POTTER TYPE III
Diagnosis. Kidneys moderately increased in volume, hyperechogenic (often the cortex only), with a
bladder that can be visualized and normal or slightly reduced amniotic fluid

OBSTRUCTIVE CYSTIC DYSPLASIA POTTER TYPE IV


Diagnosis. Kidney(s) of normal or reduced dimensions with increased echogenicity of
the parenchyma and presence of cysts in variable positions (frequently pericortical). If
bilateral, oligohydramnios and a dilated bladder with thick walls are present.

MCDK VS OCD
Parenchymal rim
Urethral involvement
Bilaterality

Algorithm for evaluation of hyperechogenic kidneys.

HYDRONEPHROSIS, HYDRO-URETERONEPHROSIS,
AND BLADDER DILATATION
Diagnosis. Dilatation of the collecting system of the kidney.
Outcome. In the first 2 years of life: spontaneous regression in
approximately 3040% of cases and need for surgery in 2050% of
cases, according to the grade of hydronephrosis present during the
prenatal period. In bilateral forms associated with oligohydramnios,
unfavorable prognosis with the possibility, in selected cases, of in
utero therapy.

Ultrasound diagnosis: one of the most widely accepted is the following: the anteroposterior
diameter of the pelvis on a transverse view of the abdomen should not, under normal
conditions, exceed 5 mm up to 32 weeks of gestation and 7 mm from the 33rd week onwards

HYDRO-URETERONEPHROSIS
VUJ OBSTRUCTION

HUN WITH URETEROCOELE

DUPLEX KIDNEY WITH TWO COLLLECTING SYSTEMS AND URETEROCOELE

BLADDER/CLOACAL EXSTROPHY
Definition. Bladder exstrophy is a very rare congenital malformation in which
the anterior wall of the bladder is absent and the posterior wall is exposed to
the amniotic fluid. It is caused by incomplete closure of the lower abdominal
wall. The defect is associated with separation of the pubic bones, a low-set
umbilicus, and abnormal genitalia.

Diagnosis. Failure to visualize the bladder in the pelvis. Presence


of a small mass on the lower abdominal wall (bladder exstrophy).
Ample abdominal wall defect with presence of omphalocele or
cystic anterior abdominal wall structure in contact with the
amniotic fluid (cloacal exstrophy).

ALGORITHM FOR NON


VISUALISATION OF
BLADDER

RENAL TUMORS

Diagnosis. The lesion is usually unilateral. The kidney is partly or


totally replaced by a mass with ill-defined margins and high
vascularization. It may have or have not a capsule.
Etiology and pathogenesis. Mesoblastic nephroma, which is a benign lesion, is
the most common tumor, followed by the malignant Wilms tumor
Diagnosis is generally made in the 3rd trimester.
The tumor mass may occupy part of the kidney oreplace it
completely . If it is very large, a mass effect on adjacent
abdominal viscera may bedetected.

Usually, mesoblastic nephromas show ill defined margins due to the absence of a capsule,
whereas neprhoblastomas are usually capsulated. Increased vascularization may be detected
on color/power Doppler.

POSTERIOR URETHRAL VALVE

Rupture of
an
obstructed
bladder
(arrow)
may
occur,
producing
urinous
ascites,

AMBIGUOUS GENITALIA
Diagnosis. It is difficult to differentiate micropenis with cryptorchidism from clitoromegaly with normal labia;
In males, the main findings are micropenis, ventral curvature of the penis, retained testicles, scrotum
bifidum, and hypospadias; in females, the main finding is clitoromegaly.

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