PATHOLOGIC FETAL KIDNEYS (MVNualla- MCU-USI Review 2017)

URINARY TRACT ABNORMALITY

CLINICAL CORRELATIONS SONOGRAPHIC PRESENTATIONS ULTRASOUND IMAGES
A.Urinary Tract Dilation (Obstructive)
• Dilatation of the renal collecting system Normal urinary tract
• one of the most common no urinary tract abnormalities and anteroposterior
sonographic prenatal diagnoses renal pelvic dia.
affecting 1% to 5% of all pregnancies (APRPD) : <4 mm between 16 and 27 AOG
< 7 mm at 28 or more AOG
A1- Low Risk
A1- Low Risk
one prenatal follow-up sonogram,
normal urinary tract
no postnatal follow-up is recommended APRPD : 4 to less than 7 mm pelvic dilation at 16
A2-3 Increased Risk to 27 AOG
require closer and more frequent evaluation 7 to less than 10 mm at 28 or more AOG
with or without central calyceal dilation.
A2-3 Increased Risk
APRPD of 7 mm or more between 16 and 27 AOG
10 mm or greater at 28 or more weeks AOG
peripheral calyceal dilation, ureteral dilation,
renal parenchymal, or bladder abnormalities
• Low association with chromosomal and non-
chromosomal syndrome
• Mild pelvic dilatation could be a soft marker
for aneuploidy
• Spontaneous regression in the first 2 years is
30-40%
• Need for surgery: 20-50%
• Unfavorable prognosis if associated with
oligohydramnios
Transient Dilatation
• result from narrowing or natural folds within • In general, the fetuses with transient dilation
the urinary tract during the early tend to have AP diameters of less than 6
developmental phase ND
mm 2 trimester and less than 8 mm in the
• eventually resolve 3rd trimester
UPJ Obstruction
• 1 in 2000 births • dilated renal pelvis and calyces without
• 10% to 30% of all cases of dilation
• antenatal renal dilation of the ureters
• Cause remains unknown • APRPD > 4 mm
• Bilateral in 30% • PK ratio > 0.5
• Males > Females
• RC/AC > 0.3
• Rare progression to dysplasia

UVJ Obstruction
 5% to 10% of all cases of urinary  hydronephrosis + dilated ureter
tract dilation
 25% of cases, contralateral kidney
is also affected.
 The dilatation may increase in utero,
but it usually decreases after birth.
 Cause : a localized dysfunction in
a region of the lower ureter.
 The prognosis is generally good
 Long-term prognosis need for
postnatal surgery.

Renal & Collecting System Duplication

• Unilateral
• Females > males
• Renal pelvic dilation due
to a ureterocele or
ectopic implantation of the ureter
• Causes 5% to 7% of antenatal
urinary tract dilatation
 hydronephrosis + dilated ureter
 Duplication of proximal ureter with
convergence of 2 segments Into a single
distal ureter on that side
 Complete duplication each implanting
seperately in the bladder
 Lower pole implants in normal location
 Upper pole implants caudally & usually its
distal ends bulge into the bladder.
 Distal end bulge forming an ectopic
ureterocele
Ureterovesical Reflux
abnormally steep, short course of ureter as it
enters bladder hydronephrosis + dilated ureter
 Often bilateral
 Males > Females
 Often ressolves spontaneously
first 1-2yrs of life
 Mx after birth :
micturating cystourethrogram
 antibiotics /surgery if no resolution
 40% of affected infants will develop renal
scarring and long-term damage if
undetected.
Posterior Urethral Valve
Cause : obstruction in PUV hydronephrosis + dilated ureter + dilated
Affect mostly males bladder
Prognosis : thickwalled bladder
If obstruction is complete = POOR
Treatment: Dilated posterior urethra = KEYHOLE SIGN
Vesicoamniotic shunting to divert urine from the Dilated posterior urethra which appears as a
obstructed fetal bladder projection from the bladder base
into the amniotic cavity
Urethral Atresia
 considered in female fetuses with bladder hydronephrosis + dilated ureter + dilated
outlet obstruction. bladder
 Characterized : Unlike PUV, the obstruction
is usually complete and may result in Megacystis early 1st trimester
megacystis detected during the first (case of uretheral atresia). The abdomen is
trimester filled by
 Prognosis: Poor the distended urinary bladder.

Congenital Megalourethra
 rare condition affecting male infants penile urethra appearing as sausage-shaped in
with a dilated and elongated penile urethra continuity with a distended bladder
 Cause : delayed apoptosis at the penile
meatus; this has also been referred to as
“anterior urethral valves,” although the
condition is not actually caused by valves.
 lead to abnormal development or
hypoplasia of the penile erectile tissue.
 resolves spontaneously and the outcome can
be favorable
Cloacal Malformation
 bladder outlet obstruction : 1 in 50,000  bladder outlet obstruction and dilated
pregnancies. ureters
 Cause : failure of development of the  female : (hydrometrocolpos) collection of
urorectal fold that usually separates the urine in uterus & vagina
rectum from the genital tract.  oligohydramnios
 a convergence gastrointestinal +
genitourinary tracts associated anomalies + PUV in a female
o a common opening in the perineum. fetus
 Predominantly in females  ureteral ectopia
 bladder duplication
 renal agenesis
 sacral agenesis
 open neural tube defects
 vertebral anomalies
PRUNE BELLY SYNDROME
 refers to an abnormally lax abdominal  Hydronephrosis
wall secondary to extensive stretching during  Hydroureters
early development.  Distended Bladder
 Etiology : Complete /partial absence of  Keyhole Sign
abdominal muscles (before)  Dilated Penile Urethra
o Current : more likely a secondary result of  Undescended testes
overdistention due to bladder dilation that,
in some cases, may have  Normal Amniotic Fluid Volume
resolved spontaneously.
 Exclusively affect males associated with
undescended teste

MEGACYSTIC MICROCOLON INTESTINAL HYPOPERISTALSIS SYNDROME (MMIHS)

 functional small bowel obstruction hydronephrosis + dilated ureter + dilated
 a microcolon with intestinal malrotation bladder
 autosomal recessive condition occurring more
commonly in females polyhydramnios in late pregnancy
 cause : poorly understood, but myogenic,
neurogenic, and even hormonal associated anomalies of other organ systems,
mechanisms have been proposed. including
 The finding of an enlarged bladder with omphalocele, cleft lip/palate, and cardiac
normal amniotic fluid defects
volume suggests the differential diagnosis of
MMIHS after excluding
cloacal malformation
B. NONOBTRUCTIVE URINARY TRACT ANOMALIES
PRIMARY MEGAURETER
 Nonrefluxing primary megaureter is the A ureteral diameter greater than 7 mm
most common cause is considered a megaureter
 4x more frequently in males than in
females
dilated tortuous ureter
 bilateral in 25% of cases
 Proposed causes include abnormal bladder and bladder outlet are normal
peristalsis,delayed patency, and sustained
folding of the fetal ureter

RENAL AGENESIS
 Absence of kidneys Absent kidneys
Lying down adrenal sign
Absence of renal arteries on color
doppler

ABBERANT CEPHALAD MIGRATION (Ectopic Kidney)

 An unascended or pelvic kidney is estimated Empty one renal fossa
to occur in 1 : 2200 to 1 : 3000 live births Kidney like mass in the pelvis
 is the most common manifestation
of renal ectopia.
 The pelvic kidney is typically proximate to the
bladder and may be midline or lateral to
midline with no right or left dominance
 Low association with chromosomal
and non-chromosomal syndromes
 Vesico-ureteral reflux is frequent
 Good prognosis
HORSHOE KIDNEY
 most common fusion defect Visualization of the isthmus and its connection
 incidence of 1 in 400 births to the lower poles of both kidneys
 male preponderance of 2 : 1.
 results from abnormal fusion and ascent of
the kidneys.
 In most cases, fusion occurs at the
lower poles but it may involve the
 upper poles or both lower and upper poles.
 Depending on the positionof the kidneys,
fusion may be symmetric or asymmetric.

Crossed Fused Renal Ectopia

• less common than horseshoe kidney
• 1 : 2000 to 1 : 7000 individuals in
postmortem series.
Results from fusion of one kidney to the other
with the ureter
crossing the midline to insert appropriately into
the
bladder.
A n empty renal fossa
A single bilobed mass-like reniform structure.
Two renal arteries are present, one in the
expected location and the other positioned
more inferiorly to the crossed kidney.

DYSPLASTIC KIDNEYS
Autosomal Recessive Polycystic Kidney Disease ( ARPKD )
Incidence :  Bilaterally enlarged kidneys
 1/ 20,000 births  --- enlarged AC
 M1 : F1  There is no clear separation between cortex
 always “ bilateral “ and medulla;thus the kidney appears
 Autosomal RecessiveInheretance homogeneously hyperechoic.
 Recurrence risks described - 25 % of cases  + oligohydramnios – pulmonary hyperplasia
 Genetic inheritance brought about by a single  No cysts in parents’s kidneys
gene disorder by 80% mutation in PKHD 1
gene on chromosome 6p21
 bilateral and symmetric renal enlargement
 fusiform cystic dilatations of the collecting
ducts
 Hepatic portal & Interlobular fibrosis
Biliary Duct hyperplasia

Prognosis : Can develop renal failure in utero

The majority of surviving
infants develop hypertension (55-100%)
Autosomal Dominant Polycystic Kidney Disease ( ADPKD )
 autosomal dominant genetic Bilaterally enlarged kidneys
 disorder (90%) Hyperechoic more on the cortical region
 10% no family hx of ADPKD Exaggeration of corticomedullary
 Bilateral, Rare in utero differentiation
rd
 1/1000 births AF- Normal or decreased by 3 trimester
Normal UBladder
 one of the most common genetic disorder
Renal cysts seen in parent’s kidney
 more commone than the ARPKD
 Not associated with aneuploidies
 Polycytic liver, spleen & pancreas more
 common in adult
 most prevalent cause of renal failure
 asymptomatic & clinically manifested in
th th
 adult “ 4 -5 decade of life “
 Recurrence risks described - 50 % of cases
 Mutations in
PKD1, PKD2, and PKD3 genes
 replacement of renal parenchyma with
multiple cysts of variable size due to
dilatation of the collecting tubules & other
tubular segments of the nephrons
MISCELLANEOUS CYSTIC RENAL DISORDER
Glomerulocystic Kidneys (GLCKs)
 Kidneys that contain cysts that correspond Bilaterally enlarged kidneys
to distended Bowman spaces Lost the normal CMD differentiation
on histologic examination. Presence od subcapsular cortical cysts
 5% to 10% of the spaces must be affected
in order to establish such a diagnosis.
 Glomerular cysts are not specific to one
simple disorder, but they can be present
with several types of renal cystic
diseases, both inherited and sporadic
 Medullary Cystic Dysplasia
 characterized by
 cystic changes in medullary tubules.
 The medullary cystic changes develop very
early in
 the pregnancy and may be obvious as early
o as the end of the first trimester.
 Is not a specific clinical condition and may
be a feature
 of many syndromes and coexist with
o glomerulocystic changes
UNCLASSIFIED RENAL CYSTIC DISEASES
Multicystic Dysplastic Kidney (MCDK)
 a congenital disorder
 enlarged kidney
 parenchyma replaced by multiple,
non- communicating cysts of varrying sizes and shapes “
cluster of grapes “
 cysts lesions– dilatations of the
collecting tubules
 loses their reniform configuration
 unilateral, bilateral or segmental
 ipsilateral ureteral atresia/malformation
 1/3000 - 5000 livebirths
 male > female
 most common cystic renal abnormality in
newborn
 80 % unilateral , Sporadic
 Recurrence described 1-2 % of cases
 Cause : defective ampulla or abnormal
response of M blastema esulting to
dysplastic Kidneys
OTHER ABNORMALITIEs
RENAL TUMORS
Mesoblastic Nephroma
 the most common renal tumor
 in fetus
 a solid tumor - sometimes
difficult to differentiate from the
adjacent renal parenchyma.
 Prognosis- good
Bilaterally enlarged kidneys
Lost the normal CMD differentiation
Associated with syndromes
Meckel-
Gruber syndrome.
medullary cystic
central nervous system
and of the extremities (polydactyly
Bardet-Biedl syndrome
Renal cystic disease
retinitis pigmentosa
polydactyly, and hypogonadism
 multiple smooth cysts which are :
mostly randomly positioned, sometimes
peripheral
variable in sizes and non-communicating
initially small , enlarge as a pregnancy
progress.
 involute either in utero or postnatal
 Small islands of echogenic parenchyma lies
between the cysts
 No normal cortex or medulla
 No identifiable collecting system
 Contralateral Kidney: Mostly normal
Compensatory hypertrophy and enlargement
 Renal abnormalities( 33% )
hydronephrosis
ureterocoele reflux
If unilateral – normohydramnio
Ilateral - oligohydramnios
Large vascular mass in the location
In the expected location of a kidney
Polyhydramnios

ABNORMAL BLADDER
EPISPADIAS
MALe :Broad short penis, SMALL / ABSENT BLADDER
A gap in the pubic symphysis, INFERIORLY DISPLACED UMBILICUS
and dorsal chordee. ABNORMAL GENITALIA
NORMAL scrotum
Descended testes with normal function.
Abnormal ejaculation due to abnormal
posterior urethra.

Fmale Clitoris is divided

Vagina is displaced anteriorly.
Uterine prolapse due to absence of
normal pelvic muscle support
Fertility is unaffected.
A deficient bladder neck leads
to constant urinary leakage.
BLADDER EXSTROPHY
 Cloacal membrane covering future
bladder persists and fails to retract
 Prevents ingrowth of mesenchymal
cells, to form lower anterior
abdominal wall -
 Closure of lower abdominal wall does
not occur and cloacal membrane
becomes anterior bladder wall
 MRI has more recently been
advocated as auseful adjunct in
evaluation of suspected cases.
 Ideally, bladder and abdominal
wall closure is performed within
the first 48 hours after birth.
 absent bladder in the pelvis
 normal AFI
 a soft tissue mass
(the exstrophied bladder)
adjacent to the lower abdominal wall
 below umbilical cord insertion
 abnormal external genitalia
(small phallus and anteriorly
deviated scrotum)
Separation of the iliac crests

CLOACAL EXSTROPHY
 anorectal + urogenital malformations Absent normal bladder
 incidence of Lower abdominal defect:
1 : 200,000 to 400,000. • cystic anterior abdominal wall mass
Cloacal exstrophy - with a persistent cloacal membrane
spectrum of the OEIS complex • Omphalocoele on top of the defect
 omphalocele • renal anomalies (hydronephrosis,
 cloacal exstrophy agenesis, and MCDK)
• lower extremity defects
 imperforate anus
• widened pubic arches
 spinal anomalies • single umbilical artery
• males have bifid penis and
MRI Allows a confident diagnosis of undescended testes
cloacal exstrophy females have duplicated miillerian
structures with duplicated, exstrophied
or atretic vaginas

BILATERAL SINGLE ECTOPIC URETERS

Females urine produced by the kidneys can bypass the
Ectopic ureters in the setting of Renal duplex bladder, which does not fill, whereas normal
collecting system amniotic fluid volume can be maintained.
ureters may communicate with the urethra or
vaginal vault
Males
Ectopic ureters in the setting of
single renal pelvis
Ectopic implantation, which may be at the
bladder neck, prostate, or posterior urethra

Adrenogenital Syndrome
usually occurs secondary to CAH Enlarged adrenals
nd
associated with disorders of sexual as early as 2 trimester-
differentiation in the female fetus Cerebriform wrinkled pattern
.
MX :maternal corticosteroid
therapy once the condition has been
ascertained in order to
reduce the virilization of the
female fetus - controversial

Neuroblastoma
considered when a mass is seen in the cystic, solid, or more complex appearance
suprarenal region, regardless of the specific Color Doppler imaging-
characteristics of the mass. increasing vascularization
The prognosis - excellent even when
hepatic metastases are present.
Disorders of Sexual Development
Ambiguous Genitalia
• Confusing appearance of external
genitalia
• Cannot determine if fetus is male or female
• AG is morphologic diagnosis with many causes
Hypospadias
 abnormal location of the
urethral orifice
due failure of dev’t of
anterior urethra
 May be along the penile
shaftin the margin of the
scrotumin the perineum
 incidence :
1 : 250 to 1 : 5000 live births.
 40 % -associated with
genitourinary anomalies
 7% to 10%
nongenitourinary anomalies
MICROPENIS
Incomplete masculinization of
male genitalia
AG findings in XYfetus • AG findings in XX fetus
o Hypospadias o Clitoromegaly
• Can mimic penis
• Abnormal ventral penile urethral
• Can mimic hypospadias + cryptorchidism
opening o Fusion of labia
• Penoscrotal, scrotal, perineal are • Posterior most often
most severe • Mimics empty scrotum
• Distal penile hypospadias is least o Prominent labial folds
• Redundant labia minora
severe • Normal variant
• Blunt-ending penis • AG + other anomalies
• +/- Small penis o Aneuploidy
• +/- Chordee (ventral curvature of • Trisomy 13
penis) • Triploidy
o Many syndromes
• 10% with cryptorchidism • Smith-Lemli-Opitz
o Epispadias • Prader-Willi
• Abnormal dorsal urethral opening • Velocardiofacial syndromes
• More rare than hypospadias AG and congenital adrenal hyperplasia
• AG and congenital adrenal hyperplasia
• Small bifid penis o Important treatable cause of AG
• Associated with bladder extrophy o AG secondary to virilized female (XX)
o Microphallus • Clitoromegaly
• Small penis • +/- Fused labia
• +/- Cryptorchidism o Congenital adrenal hyperplasia
• Bilateral enlarged adrenal glands
o Chordee • Discoid morphology
• Ventral curvature of penis • Indistinct cortex/medullary differentiation
• Penis is foreshortened • Normal adrenal glands have are triangular with an
o Cryptorchidism "ice-cream sandwich" appearance (hypoechoic
cortex and hyperechoic medulla)
• Undescended testes
o Other causes of t adrenal gland size or suprarenal
• Can not diagnose if < 32 wks mass are usually unilateral
• Scrotum mimics labia • Neuroblastoma
o Blind ending vagina • Hemorrhage
• Rarely seen prenatally • Extralobar sequestration
• loss of the pointed tip of the penis
• abnormal ventral curvature of
the penis (chordee) presumed
secondary to a strand of connective tissue
acting as a bowstring between the meatus
and glans
• a small penile shaft with two
Parallel echogenic lines representing the
remains of the dorsal hood
• tulip sign, which results from severe
curvature of the penis between the
two scrotal folds
The two hemiscrotums are separated by a penis
that is too short
HYDROCELE
• Symmetric size Simple hydrocele (common)
o Normal epididymis o Anechoic fluid
o Often transient o Normal testis
• 50% resolve by 37 wks • Homogeneous echotexture
• Most resolve by birth

Ovarian Cysts
 due to maternal hormonal Best diagnostic clue:
stimulation  Abdominal cyst
 Most unilateral; bilateral  containing"daughter cyst"
• Vary in size but may be large in a female fetus
Up to 10 cm
• Ascites develops if cyst ruptures • appear as anechoic smooth-walled,
• Usually found in lower lateral avascular cysts that may be
abdomen or pelvis functional follicles.
 Occasionally found in upper abdomen
• Very hard to differentiate a displaced
ovarian cyst
from other intra-abdominal cysts
• When the diagnosis is unclear, fetal
MRI maybe helpful.
• DDX : meconium pseudocysts,
mesenteric cysts, hydrometrocolpos,
chylous ascites
• Most fetal ovarian cysts resolve
spontaneously

HYDROCOLPOS/HYDROMETROCOLPOS
• Secondary persistent urogenital sinus fluid within the dilated vagina (v) and uterus
(ut), located posterior to the normal-appearing
• Malformations of the female lower urinary bladder
genital tract resulting in obstructionof
the lower half of the vagina can result
in fluid accumulation withinthe vagina
(hydrocolpos) or in the vagina and
uterus (hydrometrocolpos)