Fetal Spine Flashcards

1
Q

What is spina bifida?

A

a neural tube defect that occurs when the embryonic neural tube fails to close (failure of vertebral column to close during neurulation)

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2
Q

Where does normal fusion of the neural tube begin?

A

in the dorsal aspect of the mid portion of the embryo and proceeds in both cranial and caudal directions

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3
Q

*what are the most common neural defects?

A

anencephaly and spina bifida

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4
Q

What is the initial stage of central nervous system development?

A

neural tube

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5
Q

What can 80% of spina bifida be detected with?

A

alpha-fetoprotein screening in combo w/ sonography

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6
Q

How is AFP screening used to detect spina bifida?

A

-it exits the fetus through an opening in the neural tube if one is present, such as with open spina bifida, thus allowing for a greater amount to pass into the maternal circulation

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7
Q

*Is closed spina bifida associated with elevated MSAFP?

A

NO

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8
Q

What is spina bifida also referred to as?

A

meningocele and meningomyelocele (myelomeningocele)

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9
Q

What type of disabilities may spina bifida cause?

A

physical and intellectual disabilities that range from mild to severe

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10
Q

What does the severity of spina bifida depend on?

A
  • the size and location of the opening in the spine

- whether or not spinal cord nerves are affected

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11
Q

*what is the most common location for spina bifida?

A

the lumbosacral region of the spine

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12
Q

Where can spina bifida be found on the body?

A

anywhere along the spine

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13
Q

What are the 2 subtypes of spina bifida?

A
  • spina bifida occulta (mild form)-hidden

- spina bifida aperta-open

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14
Q

What is spina bifida occulta?

A
  • mild form
  • a defect in the posterior bony nerual arch of the spinal canal, with preservation of overlying tissue and skin (closed defect)
  • although the vertebrae fail to close, there is no herniation of the spinal contents outside of the spinal column, and normal fetal head and brain
  • no change in MSAFP levels
  • skin dimple or tuft of hair commonly noted at defect after birth
  • difficult to identify sonographically
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15
Q

*What is the most common form of spina bifida and the type more frequently recognized in utero?

A

spina bifida aperta

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16
Q

What is spina bifida aperta?

A
  • visible defect along the spine w/ attendant skin, subcutaneous, bony, and neural tissue abnormalities (open lesion)
  • the opening in the defective neural tube permits herniation of meninges, forming a cystic sac projecting posteriorly from the spinal canal
  • associated cord and meninges abnormalities
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17
Q

Differentiate meningocele and myelomeningocele.

A

meningocele: meninges herniation only
myelomeningocele: meninges and neural tissue (nerve roots) herniation through defect

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18
Q

what are meningocele and myelomeningocele masses referred to as?

A

spina bifida cystica

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19
Q

Are open lesions covered by skin?

A

No, they result in a mass that can be seen with sonography

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20
Q

What significance is the location of the spina bifida?

A

-the higher the location of spina bifida, the greater the neurologic impairment

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21
Q

What is spina bifida rachischisis?

A
  • the entire spinal canal is splayed open posteriorly from the neck to the sacrum
  • associated with anencephaly
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22
Q

What are the sonographic findings of spina bifida aperta (cystica)?

A

1) splaying of the laminae in the area of the defect
2) cystic mass (meningocele) or complex mass (myelomeningocele) protruding from the spine
3) Lemon sign: lemon shaped cranium w/ flattened frontal bones
4) Banana sign: banana shaped cerebellum (cerebellum will be displaced inferiorly or posteriorly)
5) obliterated cisterna magna
6) colpocephaly, the frontal horns will be small and slit-like, while the occipital horns will be enlarged
7) hydrocephaly

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23
Q

What group of abnormalities associated with cranial findings is spina bifida often initially recognized as?

A

Arnold-Chiari II malformation

24
Q

What causes the malformations of the cranium and intracranial contents in spina bifida?

A

the pressure of a large mass in the distal spine pulling on the spinal cord

25
Q

What is the sensitivity of the cranial findings at detecting spina bifida? What happens after suggested findings?

A
  • greater than 99%

- once cranial findings are suggestive, a thorough analysis of the spine should be performed

26
Q

*What happens to the posterior ossification elements or laminae in the presence of spina bifida?

A

they will often appear splayed in the transverse plane

27
Q

What is a differential diagnosis of the masses associated with spina bifida aperta?

A
  • sacrococcygeal teratoma
  • a fetus with this will most likely have a normal head and intracranial anatomy while the intracranial anatomy of a fetus with spina bifida is often altered
28
Q

What is Caudal Regression Syndrome (sacral agenesis)?

A

-a broad term used for a rare complex disorder characterized by abnormal development of or agenesis of the lower (caudal) spine

29
Q

What abnormalities may occur with caudal regression syndrome

A

-a wide range of abnormalities may potentially occur in infants with caudal regression syndrome including agenesis of the sacrum and coccyx and abnormalities in the lumbar spine

30
Q

What are (some) associated complications of caudal regression syndrome?

A
  • clubfoot
  • urinary/bowel incontinence
  • anomalies of GI Tract
  • anomalies of kidneys
  • anomalies of heart
  • neurologic disorger
  • myelomeningocele
  • lower limb anomalies
31
Q

What is the severity of the complications associated with caudal regression syndrome?

A
  • severity varies greatly
  • some individuals can walk unassisted, while others may need assistance devices such as crutches, braces, or wheelchairs.
  • others will not survive long after birth due to the severe associated complications
32
Q

What are the sonographic findings of caudal regression syndrome?

A
  • absent sacrum (sacral agenesis) and possibly part of the lumbar vertebra
  • possible abnormalities in the lower extremities like clubfeet
  • *uncontrolled maternal diabetes has a strong association with caudal regression syndrome
33
Q

What has a strong association with uncontrolled maternal diabetes?

A
  • caudal regression syndrome

- and sirenomelia

34
Q

What is sirenomelia?

A
  • mermaid syndrome, because of the fusion of the lower extremities that occurs with this disorder
  • very rare congenital developmental disorder characterized by anomalies of the lower spine and lower limbs
  • affected infants are born with partial or complete fusion of the legs
35
Q

What additional conditions may occur with sirenomelia?

A

imperforate anus, spina bifida, urinary system and cardiac malformations

36
Q

*What often occurs with sirenomelia and what does that mean?

A

-bilateral renal agenesis often accompanies this condition, so it is almost always lethal

37
Q

What other defects/conditions may be seen in fetuses with sirenomelia?

A
  • oligohydramnios and many other defects, including cardiac anomalies, genital absence, and a two-vessel cord
  • uncontrolled maternal diabetes seems to play role in the development of this disorder
38
Q

What are the sonographic findings of sirenomelia?

A
  • fusion of the lower extremities
  • bilateral renal agenesis
  • oligohydramnios (possibly anhydramnios)
39
Q

What is sacrococcygeal teratoma (SCT)?

A
  • a germ cell tumor

- contains elements of the 3 different germ cell layers: endoderm, mesoderm, and ectoderm

40
Q

*What is the most common congenital neoplasm and whom is more frequently found in?

A

sacrococcygeal teratoma; more frequently found in females

41
Q

How will a sacrococcygeal teratoma appear?

A

-tumor will appear as a complex or solid mass extending posteriorly and inferiorly form the distal fetal spine

42
Q

What is the potential of SCT?

A
  • has potential to grow inside of the pelvis and may cause destruction of the sacrum and pelvic bones
  • large ones have malignant potential
43
Q

What are the sonographic findings of SCT?

A
  • complex mass extending off of the distal fetal spine
  • mass can be highly vascular
  • hydronephrosis may be present (when mass invades pelvis)
  • fetal hydrops may be present
44
Q

What is scoliosis?

A
  • a lateral curvature of the spine

- can curve in one of three ways

45
Q

What are the 3 types of curves in scoliosis?

A
  • Levoscoliosis: spine curves to the left side as a single curve and is C-shaped
  • Dextroscoliosis: spine curves to the right as a single curve shaped like a backward C
  • Thoracic Dextroscoliosis and Lumbar Levoscoliosis: spine has two curves and is S shaped
46
Q

What is the cause of scoliosis and how common is it?

A
  • idiopathic in most cases (rarely causes pain and usually so minor it does not require treatment)
  • occurs in about 2% of the population
47
Q

What is Kyphosis?

A

the forward curvature of the spine by 30-60 degrees

48
Q

What is kyphoscoliosis?

A

when scoliosis and kyphosis abnormalities exist together

49
Q

What are the types of scoliosis categorized by age at which the curve is detected?

A

-congenital scoliosis: develops in utero
-infantile scoliosis: from birth to 3 y.o.
-juvenile scoliosis: from 4-9 y.o.
adolescent scoliosis: from 10-18 y.o.
degenerative scoliosis: occurs later in life as the spine degenerates

50
Q

What comprises about 80% of all cases of idiopathic scoliosis?

A

adolescent scoliosis

51
Q

What are the two classifications of kyphosis?

A
  • failure of formation: portion of one or more vertebral bodies fails to form. Typically occurs in the thoracolumbar spine and results in a kyphosis that usually worsens with growth. Usually visible at birth as a lump or bump on the infant’s spine.
  • failure of segmentation: occurs as 2 or more vertebrae fails to separate. this type is more likely to be diagnosed later, after the child is walking, and has a slower rate of worsening.
52
Q

What is Limb Body Wall Complex?

A
  • LBWC, also referred to a body stalk anomaly, is a rare group of fetal defects
  • a uniformly lethal anatomic abnormalities involving the anterior abdominal wall of the fetus
53
Q

What are the causes of LBWC?

A

-vascular occlusion, amnion rupture, or embryonic dygenesis

54
Q

What are the most common sonographic findings of LBWC?

A
  • a short or absent umbilical cord, ventral wall defects, limb defects, craniofacial defects (exencephaly or encephalocele), and scoliosis
  • fetus will appear closely connected with the placental and will have marked scoliosis
55
Q

LBWC can be detected with what, when and why?

A

-b/c of the opening in the ventral wall, elevated levels of MSAFP can be detected in the 2nd trimester

56
Q

What has a very similar sonographic finding as LBWC and can be seen simultaneously?

A

amniotic band syndrome