DMS 223 wk 4
The term campomelic, comes from the Greek word for
"bent limb"
During fetal development, around ____, the fetal kidneys begin to produce urine.
12 weeks
The fetal bladder can be seen as early as_____and should always be seen by 15 weeks.
13 weeks
The kidneys can be sonographically identified as early as
15 menstrual weeks
The urinary bladder normally fills and empties once every
30 to 60 minutes
Pelviectasis/Pyelecstasis (dilated pelvis):
6-9 mm, common more on the right side; needs monitoring / follow-up; mild dilatation has been seen in Down syndrome fetuses
The testicles move down into the scrotum during the
7th month of gestation
The fetal kidneys develop within the pelvis and ascend into their normal position by
9th week.
US of PRUNE BELLY SYNDROME
Abnormal compression of abdominal wall, Oligohydramnios, Hydronephrosis, Large bladder
what is combined male and female sexual organs
Ambiguous genitalia
PRUNE BELLY SYNDROME/ Eagle-Barrett syndrome
Anterior abdominal wall: musculatureis deficient or absent--hypotonic, Urinary tract anomalies: mega-ureters, large bladder (megacystis), PUV, Bilateral cryptorchidism (undescended testicles)
CLASSIC POTTER / TRUE POTTER SYNDROME
Bilateral kidney agenesis, oligohydramnios, no bladder
US appearance of IPKD
Bilateral large homogeneous echogenic kidneys, Usually bladder is small or unable to see, Oligohydramnios, pulmonary hypoplasia,
what is seen with THANATOPHORIC DYSPLASIA
Bowed long bones—telephone receiver, Narrow thorax with protruding abdomen;bell-shaped chest, Extreme micromelia, polyhydramnios
CAMPOMELIC DYSPLASIA CHARACTERISTICS
Bowing of the long bones with the lower extremities affected most severely, Talipes/clubfoot, narrow chest,
OSTEOGENESIS IMPERFECTA
Commonly known as brittle bone disease, is a group of disorders that results in multiple fracturesthat can occur in utero.
US appearance of UPJ
Dilated renal pelvis, w/o dilated ureters, Thin cortex, the ureter, bladder, and amniotic fluid are usually normal
INFANTILE POLYCYSTIC KIDNEY DISEASE (IPKD)/potter type I
Disease due to multiple/numerous small cysts of 1-2 mm in tubules, collecting ducts
PRUNE BELLY SYNDROME treatment
Early surgery to fix weak abd muscles, urinary tract problems, undescended testicles
US of MDKD
Enlarged kidney with multiple cysts of variable sized cysts, usually unilateral
TESTICULAR HYDROCELE
Excessive accumulation of fluid in the tunica vaginalis
TESTICULAR HYDROCELE US appearance
Fluid surrounds testicle
with____ a small amount of urine may be seen in the renal pelvis in the normal fetus, measuring in its AP diameter less than 5 mm.
HYDRONEPHROSIS
JEUNE SYNDROME/ Asphyxiating Thoracic Dysplasia
Have rib cages that are smaller& narrower than usual
what is THANATOPHORIC DYSPLASIA associated with
Horseshoe kidney, atrial septal defect, Imperforated anus, hypertelorism, polyhydramnios
US appearance of PUV
Hydronephrosis, Enlarged posterior urethra, Dilated bladder, keyhole appearance
CAMPOMELIC DYSPLASIA
Is a congenital disorder characterized by development of abnormal curvature of long bones, particularly from lower extremities
OBSTRUCTIVE CYSTIC DYSPLASIA/potter type IV
Is a potential complication that can occur from prolonged obstruction of the bladder outlet or urethra during gestation.
ACHONDROGENESIS
Is a rare type of growth hormone deficiency in which there is a defect in the development of bone & cartilage
BLADDER EXSTROPHY
Is an anomaly wherein the bladder is located on the outside of the pelvis.
HYDRONEPHROSIS
Is the most common renal abnormality in an unborn fetus
US appearance of ACHONDROGENESIS
Lack of vertebral ossification, Severe pulmonary hypoplasia, Severely shortened-limbs (micromelia), Micrognathia, Macrocephaly, A protuberant (protruding/bulging) abdomen
what is the most common cause of palpable abdominal mass in infants, common in males and is usually unilateral
MDKD
One condition associated with IPKD is
Meckel-Gruber syndrome
US appearance of UVJ
Mega ureter, hydronephrosis, ureterocele, ectopic ureter
MULTICYSTIC DYSPLASTIC KIDNEY DISEASE (MDKD)/ potters type II
Most common type of cystic renal dysplasia
OSTEOGENESIS IMPERFECTA US appearance
Multiple fractures of long bones, ribs & spine, Narrow thorax, Micromelia
Achondrogenesis is derived from Greek and means
NOT producing cartilage."
what is an inherited rare disorder and has an abnormal fragility of the bones due to hypomineralization of entire skeleton
OSTEOGENESIS IMPERFECTA
UVJ (URETEROVESICAL JUNCTION) OBSTRUCTION
Obstruction at level of distal ureter where it inserts into the bladder
UPJ (URETEROPELVIC JUNCTION) OBSTRUCTION
Obstruction occurs at the junction between renal pelvis & ureter
THANATOPHORIC DYSPLASIA
One of the more common forms of lethal short-limbed dwarfism seen
what is a distended fetal abdomen with wrinkled appearanc, common in males
PRUNE BELLY SYNDROME
OSTEOGENESIS IMPERFECTA type II
Results in multiple fractures in utero, skull demineralization, bell-shaped chest, and decreased fetal movement.
JEUNE SYNDROME characterized by
Small thorax, renal dysplasia, Oligohydramnios, Varying degrees of rhizomelia, Polydactyly
what is mostly benign and tends to resolve in first 9 months of life
TESTICULAR HYDROCELE
what has a cloverleaf skull with frontal bossing and hydrocephalus
THANATOPHORIC DYSPLASIA
The four most common skeletal dysplasia's have been listed as
Thanatophoric dysplasia, Achondrogenesis, Osteogenesis imperfecta, Achondroplasia
Ovarian Cyst
This mass often appears as multiseptated and bilateral
renal agenesis is more common in males T/F
True
what is the most common level of obstruction and is usually unilateral
UPJ (URETEROPELVIC JUNCTION) OBSTRUCTION
what is the least common cause of hydronephrosis
UVJ obstruction
UVJ occurs because
Ureterocele, Congenital obstruction, Ureterovesical junction stenosis, An ectopic ureter
OBSTRUCTIVE CYSTIC DYSPLASIA is associated with
VACTERL, chromosomal anomalies, Trisomies 13 & 18, Meckel Gruber, Von Hippel-Lindau, Tuberous sclerosis
characteristics of ACHONDROGENESIS
Very short trunk, arms, and legs, Head appears large in relation to the trunk, Narrow thorax & pulmonary hypoplasia,
US appearance of renal agenesis
When the kidney is absent in the abdomen, the adrenal gland can be noted in a parallel, flattened position, a sonographic finding known as the "lying down" adrenal sign.
PUV (POSTERIOR URETHRAL VALUE) OBSTRUCTION
Which occur only in males, consist of mucosal folds that can obstruct urethra, Most severe obstruction
A renal pelvis diameter, measured in an AP direction in a transverse plane that exceeds 10 mmis considered to be
abnormal
Hydrometrocolpos
abnormal fluid in the vagina and uterus
Skeletal dysplasia is the term used to describe
abnormal growth and density of cartilage and bone
Phocomelia
absent middle portion of the limb (hands & feet attached to trunk)
Hydrometrocolpos on US appears
as a hypoechoic "cyst like" mass posterior to the bladder in the area of the uterus
In the presence of unilateral renal agenesis, the contralateral kidney will enlarge, a condition known as
compensatory hypertrophy
Thanatophoric means ____ in greek
death producing
Acromelia
distal extremity shortening (phalanges, metacarpals)
The most common renal anomaly is the
duplex collecting system, also referred to as a duplicated or double collecting system.
MDKD is thought to be caused by an
early first trimester obstruction of ureter
Clitoromegaly
enlargement of the clitoris; most common fetal female genital abnormality
_____ may be decreased in lethal forms of dysplasia
fetal activity
The most common abnormal finding on a prenatal ultrasound is
genitourinary abnormality.
______ are kidneys that are attached at their lower poles.
horse shoe kidneys
what is an autosomal recessive polycystic disease, is congenital and fatal soon after birth
infantile polycystic kidney disease (IPKD)
Ambiguous genitalia
is a birth defect in which the sex of the fetus cannot be determined
Hermaphroditism
is a condition in which both ovarian and testicular tissues are present
Meckel-Gruber syndrome
is a fatal disorder that is associated with renal cystic disease, occipital cephalocele, pulmonary hypoplasia, and polydactyly.
By the 10th week of gestation, fully functional _____ exist
kidneys
Pulmonary hypoplasia the most common cause of death in
lethal skeletal dysplasia
The sonographic finding of bladder exstrophy is that of a
lower abdominal wall mass inferior to the umbilicus
____ is linked with fetal skeletal dysplasia
maternal dysplasia
The ovarian mass results from
maternal hormonal stimulation and is usually benign
Findings of abnormal external genitalia in the maleare
micropenis, and undescended testicles
Mesomelia
middle limb segment shortening (radius, ulna, tibia, fibula
is potter syndrome compatible with life
no
with MDKD the affected kidney is
nonfuctional
Renal abnormalities are the most frequent cause of
oligohydramnios
if a normal amount of fluid is noted during a sonogram, one can assume that there is at least
one functioning fetal kidney present
visualization of the ureters would indicate some
pathological process
The most worrisome consequence of oligohydramnios is
pulmonary hypoplasia
Bilateral disease often leads to oligohydramnios, and thus is related to a poor outcome in most cases due to
pulmonary hypoplasia..
Failure of a kidney to form is referred to as
renal agenesis
what leads to potters syndrome and is not compatible with life
renal agenesis
When there is absence of the kidney, there will be NO identifiable
renal artery branches
with skeletal dysplasia the bones may be
shortened, deformed, thin, or absent
Micromelia
shortening of entire extremity
Rhizomelia
shortening of proximal extremity (humerus, femur)
CLASSIC POTTER / TRUE POTTER SYNDROME is associated with
single umbilical artery, facial, limb anomalies, and pulmonary hypoplasia
US appearance of OBSTRUCTIVE CYSTIC DYSPLASIA
small & echogenic kidneys with cortical periphery cysts (in chronic cases), usually bilateral; obstruction
The gonads develop in the upper fetal abdomen and descend into
the pelvis
The adrenal glands are
triangular-shaped hypoechoic structures located superior to the upper pole of the kidneys.
whats a distinctive finding of OSTEOGENESIS IMPERFECTA type II
when transducer pressure is applied to the skull, the shape of the "soft" skull can be distorted.