study guide chapters 63 & 64 Flashcards
Kidneys should be sonographically documented in all fetuses starting at how many weeks?
13weeks ( I think she wants us to answer)
With TVS, fetal kidneys have been documented as early as 9 weeks of gestation
By 12 weeks of gestation, 86% of fetal kidneys may be imaged.
Fetal kidneys and bladder are seen by 13 weeks of gestation
protrution of the posterior wall of the urinary bladder is called what?
Exstrophy of the Bladder
No muscle or connective tissue forms in anterior abdominal wall to cover urinary bladder
Therefore, bladder is formed external to abdominal wall
Occurs primarily in males; incidence is 1 in 30,000 births
Is most likely sporadic occurrence and isolated
Sagittal view of abdominal pelvic region of fetus will reveal an anterior mass that appears as mound of soft tissue
A condition in which ovarian and testicular tissues are present?
True hermaphroditism
Internal and external genitalia variable
Most fetuses will have normal karyotype, but some are mosaics (46,XX/46,XY)
Sonographic appearance of complete renal agenesis?
Complete absence of kidney(s)
Sonographic Findings
Severe oligohydramnios after 13 to 15 weeks’ menstrual age
Persistent absence of urine in fetal bladder (observe for period of 1 hour)
Failure to visualize kidneys or renal arteries (use color flow to outline renal arteries)
Abnormally small thorax
Bilateral renal agenesis is lethal disorder due to renal insufficiency and hypoplasia of lungs-could have potters face
unilateral agenesis, presence of at least one functioning kidney- excellent survival rates
Renal agenesis, oligo, pulmonary hyperplasia, Abnormal facies, malformed hands and feet, are found in which condition?
Potters sequence? ( I think she may want us to anwer this but could be anything that leads to severe oligo really- hands and feet part threw me off)
Which charateristic of multicystic dysplastic kidney disease is most common?
atleast one kidney with multi cysts of varying size, may effect a part or entire kidney. starts at periphery and enlarge and more cysts develop
posible enlargement of kidneys and AC. Distorted renal outline.
Unilateral: other kidney enlarged. ( but bladder and AFI normal)
Bilateral: Oligo and absence of bladder
Which of the following sites of hydronephrosis in the neonate is most common?( the level of blockage causing hydro most common maybe?)
Ureteropelvic Junction Obstruction
Occurs at junction between renal pelvis and ureter
Results in back up of urine into renal pelvis and calyces
Causes include: Abnormal bends or kinks in ureter Adhesions Abnormal valves in ureter Abnormal outlet shape at ureteropelvic junction Absence of longitudinal muscle
Finding of Hydronephrosis?
Hydronephrosis refers to dilatation of renal pelvis and calyces
Fetal hydronephrosis is most common fetal anomaly
Findings suggesting hydronephrosis include abnormal intrapelvic anteroposterior (AP) diameter measurement
Intrapelvic diameter >7 mm, consider mild hydronephrosis
Intrapelvic diameter measuring 7 – 15 mm, consider moderate hydronephrosis
Intrapelvic diameter measuring >15 mm, considered marked dilatation or severe hydronephrosis
Dilated bladder with a keyhole appearance?
Posterior Urethral Valve Obstruction
Sonographic features: Severe bladder dilatation Massive hydronephrosis with dysplastic changes in renal tissue Dilated tortuous ureters Oligohydramnios
Bladder wall severely thickened with dilated posterior urethra—“the keyhole sign”
Sonographic findings in prune belly syndrome?
Is characterized by three features:
Cryptorchidism
Agenesis or hypoplasia of abdominal wall muscle
Dilatation of collecting system
Sonographic Findings in Prune Belly Syndrome
Absent abdominal musculature
Undescended testes
Large urinary bladder
Dilated prostatic urethra
Dilated and tortuous ureters
Kidneys can be normal, hydronephrotic, or dysplastic
Is referred to as Eagle Barrett syndrome
Is rare condition seen mostly in males
Bladder wall thickness in a fetus is usually what?
2mm or less
The renal system fails to develop in which one of these conditions?
Renal agenesis
The permanent kidneys arise from the what?
Permanent kidneys develop from two different sources:
- Metanephric diverticulum or ureteric bud
- Metanephric mesoderm
the ureteric bud gives rise to?
Ureteric bud gives rise to: Ureter Renal pelvis Calyces Collecting tubules
The kidneys originally lie in which of the following conditions?
Initially lie very close together in pelvis
Gradually migrate into abdomen and become separated from one another
Normally complete migration by ninth week of gestation
What condition develops if the lumen of the allotonis persists?
If lumen of allantois persists while urachus forms, urachal fistula develops, which causes urine to drain from bladder to umbilicus
If only small part of lumen of allantois persists, is called urachal cyst or vesicoallantoic cyst
If larger portion of lumen persists, may cause urachal sinus to develop that may open at umbilicus or into urinary bladder
This condition is called patent urachus
Normal renal pelvis AP at 20 weeks?
4mm
4mm up to 3rd tri and 7mm from 3rd tri until term
an anechoic cystic structure within the fetal bladder is most likely?
Ureterocele
Cystic dilation of intravesical (bladder) segment of distal ureter
If duplex kidney associated, kidney will typically appear with hydroneprosis of upper pole
Not uncommon to see urine collection in lower pole due to reflux
Ureter associated with ureterocele commonly dilated, tortuous, and connected to bladder in abnormal location
The most likely cause of bilateral hydronephrosis is what?
? puv?
you can not exclude renal agenesis before how many weeks?
15-18 weeks bc AF is still produced by other sources until then
What are the songraphic findings of posterior urethral valve syndrome?
Sonographic features: Severe bladder dilatation Massive hydronephrosis with dysplastic changes in renal tissue Dilated tortuous ureters Oligohydramnios
Bladder wall severely thickened with dilated posterior urethra—“the keyhole sign”
Fetal ovarian cyst: know all of the correct info about those. (question is probably which of the following is Not true…)
- results from maternal hormonal stimulation
- usually benign
- Most common cystic mass in female fetuses
- Range in size from small to large
Usually located on one side of abdomen or lower pelvis
Can be unilateral or bilateral
Most cysts regress either in utero or during postnatal period
Mass may twist onto itself, leading to torsion, rupture, intestinal obstruction
If the fetal kidneys are enlarged and echogenic bilaterally, what condition are we looking at?
-Infantile Polycystic Kidney Disease (aka autosomal recessive polycystic kidney disease)
0r
Adult Dominant Polycystic Kidney Disease
(aka autosomal dominant polycystic kidney disease)
Renal malformations may be divided into what 2 categories?
- those involving congenital malformation
- those resulting from an obstructive process
the testicles are not visualized in the scrotal sac until how many weeks?
Testes remain near deep inguinal rings until 28th week
Descend through inguinal canals and enter scrotum before birth
Which of the following anomalies demonstrate the sonographic characteristics of trisomy 18?
Pena-Shokeir syndrome and trisomy 18 have similar features, so karyotyping should be offered
—Or she may be looking for—-
-Rocker-bottom foot characterized by prominent heel and convex sole
Is associated with multiple syndromes and chromosomal anomalies, especially trisomy 18
which of the following anomalies is associated with micromelia and a hitchhiker thumb?
Diastrophic Dysplasia
Sonographic Findings Micromelia Talipes Fixed abducted thumb (hitchhiker thumb) Scoliosis Talipes (clubfoot) Micrognathia (small chin) Cleft palate
Term that describes a shorting of the proximal portion of an extremity?
rhizomelia
shortening of the proximal bone segment (humerus and femur)
Mesomelia
shortening of the middle segments (radius/ulna and tib/fib)
micromelia
the shortening of the entire extremity
The charateristic of thanatophoric dysplasia?
Is most common lethal skeletal dysplasia “death personified”
type I:
short, curved femurs and flat vertebral bodies
type II:
by straight, short femurs, flat vertebral bodies, and cloverleaf skull
Sonographic Features Severe micromelia especially of proximal bones (rhizomelia) Cloverleaf deformity occurs as result of premature craniosynostosis and may be associated with ACC Narrow thorax with shortened ribs Frontal bossing (bulging forehead) Hypertelorism (widely spaced eyes) Flat vertebral bodies (platyspondyly Severe polyhydramnios Hydrocephalus Nonimmune hydrops
Which of the following anomalies is associated with the Amish community?
Ellis–van Creveld Syndrome (aka chondroectodermal dysplasia)
May present with:
Narrow thorax, causing pulmonary hypoplasia
Heart defects, the most common of which is atrial septal defect (ASD)
Approximately one half will die during infancy from cardiorespiratory complications
Other features identified include:
Abnormal teeth
Hypoplastic nails
Thin hair
Survivors have normal intellect and short stature Sonographic Findings Limb shortening Narrow thorax Polydactyly Heart defects (50%)
Which of the following diagnosis is most likely when there is multiple fractures and a compressible calverium?
Osteogenesis Imperfecta
Specific sonographic features of osteogenesis imperfecta type II include:
Generalized hypomineralization of bones, especially calvarium
Multiple fractures of long bones, ribs, and spine
Narrow thorax
Micromelia
brain structures clearly visualized
poly
compressible calverium
Rare disorder of collagen production leading to:
Brittle bones
Manifestations in teeth, skin, ligaments
Blue sclera
4 types:
Type II considered most severe
type II lethal as severe
type I and IV mildest
Which of the following anomolies is associated with a cloverleaf skull?
type II thanatophoric dysplasia
which of the following nonlethal skeletal dysplasias is most common?
Achondroplasia
most common nonlethal skeletal dysplasia; occurs in 2.53 of every 100,000 births
Results from decreased endochondral bone formation
Produces short, squat bones
Heterozygous achondroplasia: inherited from one parent
Has good survival rate
Normal intelligence
Normal life span
Homozygous achondroplasia: inherited from two parents
Considered lethal, with sonographic findings more severe
Narrow thorax
Most infants die shortly after birth from respiratory complications
Sonographic Findings Rhizomelia Macrocephaly Trident hands (short proximal and middle phalanges) Depressed nasal bridge Frontal bossing Mild ventriculomegaly may be identified
Which of the following anomalies is produced by an alkaline phosphatase deficiency?
Congenital Hypophosphatasia
similar to osteogenesis imperfecta and achondrogenesis
Lethal disorder- respiratory complications
Sonographic Findings
Diffuse hypomineralization of bones
Moderate to severe micromelia
Extremities that may be bowed, fractured, or absent
Poorly ossified cranium with well-visualized brain structures
Small thoracic cavity
a congenital condition characterized by a disorder of collagen production?
Osteogenesis Imperfecta
Brittle bones
Manifestations in teeth, skin, ligaments
Blue sclera
- Types I and IV mildest forms; unlikely that diagnosis made in utero
- Type III is severe
- Type II considered most severe form; lethal outcome
Has presented with increased nuchal translucency in first trimester of pregnancy
Generalized hypomineralization of bones, especially calvarium
Multiple fractures of long bones, ribs, and spine
Narrow thorax
Micromelia
severe micromelia, decreased or absent ossification of the spine, macrocephaly, micrognathia are seen in which condition?
Achondrogenesis
- rare, lethal, grim outcome
- caused by cartilage abnormalities =bone formation and hypomineralization
Type I (Parenti-Fraccaro)-more severe type II (Langer-Saldino)-less severe, more common; is result of spontaneous mutation
Sonographic Findings Severe micromelia Decreased or absent ossification of spine Macrocephaly Short trunk Short thorax and short ribs Micrognathia Polyhydramnios Hydrops possibly identified
A group of lethal skeletal dysplasias characterized by bowing of the long bones?
Camptomelic Dysplasia
Lethal anomaly- most die neonate bc pulmonary hypoplasia
Sonographic Findings Bowing of long bones with lower extremities affected most severely Small thorax Hypoplastic fibulas Hypoplastic scapulae Hypertelorism Cleft palate Micrognathia Talipes Hydrocephalus Polyhydramnios Hydronephrosis
Songraphic features: small thorax, rhizomeilia, renal dysplasia, polydactyly are associated with this condition:
Jeune’s Syndrome: ( aka asphyxiating thoracic dysplasia)
characterized by very narrow thorax
Sonographic Findings Small thorax Rhizomelia Renal dysplasia Polydactyly (less common)
A diagnosis with talipes may be made with which of the following characteristics?
persistent abnormal inversion of the foot perpendicular to the lower leg
deformity of the foot and ankle
usually idiopathic
fusion of the lower extremities is associated with which of the following?
Sirenomelia
is anomaly in which there is fusion of lower extremities ( a type of caudal regression)
Vascular hypoperfusion is thought to be a causative factor in sirenomelia, with a single umbilical artery common
Sonographic Findings Variable fusion of lower extremities Bilateral renal agenesis Oligohydramnios Single umbilical artery
The sonographic characteristics of achondroplasia may not be evident until after how many weeks?
22 weeks when biometry becomes abnormal
The most common lethal skeletal dysplasia?
thanatophoric dysplasia (death personified)
which classification of osteogenesis is the most severe?
Type II considered most severe form; lethal outcome
pick the incorrect statement about achonroplasia:
Achondroplasia
most common nonlethal skeletal dysplasia; occurs in 2.53 of every 100,000 births
Results from decreased endochondral bone formation
Produces short, squat bones
Heterozygous achondroplasia: inherited from one parent
Has good survival rate
Normal intelligence
Normal life span
Homozygous achondroplasia: inherited from two parents
Considered lethal, with sonographic findings more severe
Narrow thorax
Most infants die shortly after birth from respiratory complications
Sonographic Findings Rhizomelia Macrocephaly Trident hands (short proximal and middle phalanges) Depressed nasal bridge Frontal bossing Mild ventriculomegaly may be identified
rare condition characterized by phocomelia and , facial anomalies?
Roberts’ Syndrome
Prognosis poor
Stillbirth and infant mortality common
Survivors are growth-restricted and have severe mental retardation
Sonographic Findings
Phocomelia, with upper extremities more severely affected
Bilateral cleft lip and palate
Hypertelorism
Microcephaly
Cardiovascular, renal, and gastrointestinal anomalies may be identified
the majority of clubbed feet, why do they happen?
idiopathic
Abnormal growth and density of cartilage and bone is described as which of the following conditions?
skeletal dysplasia
1 in 4000 to 5000 births
which of the following conditions is caused by cartilage abnormalities that result in abnormal bone formation and hypominerizaton
Achondrogenesis ( death personified)
a lethal skeletal dysplasia characterized by short ribs, short limbs and polydactyly?
Short-Rib Polydactyly Syndrome
Lethal anomaly
Most infants die shortly after birth as a result of pulmonary hypoplasia
Sonographic Findings Narrow thorax with short ribs Polydactyly Micromelia Midline facial cleft
webbing across the joint and multiple contractures are sonographic findings in which of the following?
lethal multiple pterygium syndrome
platyspondyly
Flat vertebral bodies
