study guide chapters 63 & 64

Question 1

Kidneys should be sonographically documented in all fetuses starting at how many weeks?

Answer 1

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

Question 2

protrution of the posterior wall of the urinary bladder is called what?

Answer 2

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

Question 3

A condition in which ovarian and testicular tissues are present?

Answer 3

True hermaphroditism

Internal and external genitalia variable

Most fetuses will have normal karyotype, but some are mosaics (46,XX/46,XY)

Question 4

Sonographic appearance of complete renal agenesis?

Answer 4

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

Question 5

Renal agenesis, oligo, pulmonary hyperplasia, Abnormal facies, malformed hands and feet, are found in which condition?

Answer 5

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)

Question 6

Which charateristic of multicystic dysplastic kidney disease is most common?

Answer 6

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

Question 7

Which of the following sites of hydronephrosis in the neonate is most common?( the level of blockage causing hydro most common maybe?)

Answer 7

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

Question 8

Finding of Hydronephrosis?

Answer 8

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

Question 9

Dilated bladder with a keyhole appearance?

Answer 9

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”

Question 10

Sonographic findings in prune belly syndrome?

Answer 10

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

Question 11

Bladder wall thickness in a fetus is usually what?

Answer 11

2mm or less

Question 12

The renal system fails to develop in which one of these conditions?

Answer 12

Renal agenesis

Question 13

The permanent kidneys arise from the what?

Answer 13

Permanent kidneys develop from two different sources:

1. Metanephric diverticulum or ureteric bud
2. Metanephric mesoderm

Question 14

the ureteric bud gives rise to?

Answer 14

Ureteric bud gives rise to:
Ureter 
Renal pelvis
Calyces 
Collecting tubules

Question 15

The kidneys originally lie in which of the following conditions?

Answer 15

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

Question 16

What condition develops if the lumen of the allotonis persists?

Answer 16

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

Question 17

Normal renal pelvis AP at 20 weeks?

Answer 17

4mm

4mm up to 3rd tri and 7mm from 3rd tri until term

Question 18

an anechoic cystic structure within the fetal bladder is most likely?

Answer 18

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

Question 19

The most likely cause of bilateral hydronephrosis is what?

Answer 19

? puv?

Question 20

you can not exclude renal agenesis before how many weeks?

Answer 20

15-18 weeks bc AF is still produced by other sources until then

Question 21

What are the songraphic findings of posterior urethral valve syndrome?

Answer 21

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”

Question 22

Fetal ovarian cyst: know all of the correct info about those. (question is probably which of the following is Not true…)

Answer 22

• 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

Question 23

If the fetal kidneys are enlarged and echogenic bilaterally, what condition are we looking at?

Answer 23

-Infantile Polycystic Kidney Disease (aka autosomal recessive polycystic kidney disease)
0r

Adult Dominant Polycystic Kidney Disease
(aka autosomal dominant polycystic kidney disease)

Question 24

Renal malformations may be divided into what 2 categories?

Answer 24

• those involving congenital malformation

- those resulting from an obstructive process

Question 25

the testicles are not visualized in the scrotal sac until how many weeks?

Answer 25

Testes remain near deep inguinal rings until 28th week Descend through inguinal canals and enter scrotum before birth

Question 26

Which of the following anomalies demonstrate the sonographic characteristics of trisomy 18?

Answer 26

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

Question 27

which of the following anomalies is associated with micromelia and a hitchhiker thumb?

Answer 27

Diastrophic Dysplasia ``` Sonographic Findings Micromelia Talipes Fixed abducted thumb (hitchhiker thumb) Scoliosis Talipes (clubfoot) Micrognathia (small chin) Cleft palate ```

Question 28

Term that describes a shorting of the proximal portion of an extremity?

Answer 28

rhizomelia | shortening of the proximal bone segment (humerus and femur)

Question 29

Mesomelia

Answer 29

shortening of the middle segments (radius/ulna and tib/fib)

Question 30

micromelia

Answer 30

the shortening of the entire extremity

Question 31

The charateristic of thanatophoric dysplasia?

Answer 31

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 ```

Question 32

Which of the following anomalies is associated with the Amish community?

Answer 32

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%) ```

Question 33

Which of the following diagnosis is most likely when there is multiple fractures and a compressible calverium?

Answer 33

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

Question 34

Which of the following anomolies is associated with a cloverleaf skull?

Answer 34

type II thanatophoric dysplasia

Question 35

which of the following nonlethal skeletal dysplasias is most common?

Answer 35

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 ```

Question 36

Which of the following anomalies is produced by an alkaline phosphatase deficiency?

Answer 36

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

Question 37

a congenital condition characterized by a disorder of collagen production?

Answer 37

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

Question 38

severe micromelia, decreased or absent ossification of the spine, macrocephaly, micrognathia are seen in which condition?

Answer 38

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 ```

Question 39

A group of lethal skeletal dysplasias characterized by bowing of the long bones?

Answer 39

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 ```

Question 40

Songraphic features: small thorax, rhizomeilia, renal dysplasia, polydactyly are associated with this condition:

Answer 40

Jeune’s Syndrome: ( aka asphyxiating thoracic dysplasia) characterized by very narrow thorax ``` Sonographic Findings Small thorax Rhizomelia Renal dysplasia Polydactyly (less common) ```

Question 41

A diagnosis with talipes may be made with which of the following characteristics?

Answer 41

persistent abnormal inversion of the foot perpendicular to the lower leg deformity of the foot and ankle usually idiopathic

Question 42

fusion of the lower extremities is associated with which of the following?

Answer 42

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 ```

Question 43

The sonographic characteristics of achondroplasia may not be evident until after how many weeks?

Answer 43

22 weeks when biometry becomes abnormal

Question 44

The most common lethal skeletal dysplasia?

Answer 44

thanatophoric dysplasia (death personified)

Question 45

which classification of osteogenesis is the most severe?

Answer 45

Type II considered most severe form; lethal outcome

Question 46

pick the incorrect statement about achonroplasia:

Answer 46

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 ```

Question 47

rare condition characterized by phocomelia and , facial anomalies?

Answer 47

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

Question 48

the majority of clubbed feet, why do they happen?

Answer 48

idiopathic

Question 49

Abnormal growth and density of cartilage and bone is described as which of the following conditions?

Answer 49

skeletal dysplasia 1 in 4000 to 5000 births

Question 50

which of the following conditions is caused by cartilage abnormalities that result in abnormal bone formation and hypominerizaton

Answer 50

Achondrogenesis ( death personified)

Question 51

a lethal skeletal dysplasia characterized by short ribs, short limbs and polydactyly?

Answer 51

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 ```

Question 52

webbing across the joint and multiple contractures are sonographic findings in which of the following?

Answer 52

lethal multiple pterygium syndrome

Question 53

platyspondyly

Answer 53

Flat vertebral bodies