Fetal CNS Pt. 3 Flashcards

(37 cards)

1
Q

What is the spectrum of congenital anomalies affecting the fetal central nervous system (CNS)?

A

Enormous

Major congenital anomalies include neural tube defects, spina bifida, anencephaly, and others.

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2
Q

What can axial images through the fetal brain reliably detect?

A

Serious abnormalities that warn a poor prognosis for the fetus

These images are obtained during routine measurements of biparietal diameter and head circumference.

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3
Q

What is Filly’s Rule in relation to fetal CNS anomalies?

A

Most life-threatening abnormalities can be detected before 20 weeks gestation

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4
Q

What can polyhydramnios and discordant biometric measurements indicate?

A

A more focused look at the fetal CNS

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5
Q

Define neural tube defects.

A

Spectrum of fetal anatomic abnormalities resulting from failure of closure of the neural tube

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6
Q

When does the rostral (head-end) closure of the neural tube occur?

A

Day 25 (conceptual)

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7
Q

When does the caudal (tail-end) closure of the neural tube occur?

A

Day 27 (conceptual)

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8
Q

List some types of neural tube defects.

A
  • Spina bifida
  • Anencephaly
  • Exencephaly (acrania)
  • Encephalocele
  • Iniencephaly
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9
Q

What is spina bifida?

A

A defect in the spinal column resulting from failure of neural tube closure

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10
Q

What characterizes spina bifida occulta (hidden)

A
  • Mildest form
    • Defect in the posterior bony arch
    • Skin and tissue remain intact
    • Often causes no symptoms
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11
Q

What characterizes spina bifida aperta?

A
  • Visible opening along the spine
    • Allows herniation of neural tissueTypes include:
      * Myelocele: Herniation of meninges only
      * Myelomeningocele: Herniation of meninges and neural tissue
      * Rachischisis: Complete opening of the spinal canal (most severe form)
      Associated condition: Tethered cord (spinal cord abnormally attached)
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12
Q

Differentiate between myelocele and myelomeningocele.

A
  • Myelocele: herniation of meninges alone
  • Myelomeningocele: herniation of meninges and neural tissue
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13
Q

What is rachischisis?

A
  • Also known as complete spina bifida
  • Severe form of spina bifida with a cleft through the entire spine
  • Involves the entire neural tube, from cervical spine to sacrum
    Commonly associated with cranial neural tube defects such as:
  • Anencephaly
  • Acrania
  • Iniencephaly
  • Almost always fatal
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14
Q

What are common signs of spina bifida occulta?

A
  • Tuft of hair on the lower back
  • Dimple on the lower back
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15
Q

What is a tethered cord?

A

A spinal cord that can’t move freely inside the spinal canal

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16
Q

What is the conus level in a normal spinal cord?

A

Approximately at the L2-L3 disc space or higher

17
Q

What are the sonographic findings for spina bifida?

A
  • Transverse Spine: splaying of posterior ossification centers
  • Sagittal Spine: discontinuity of parallel lateral ossification centers
  • Intracranial: lemon sign and banana sign
A. Normal lumbosacral anatomy B. Spina bifida occulta C. Tuft of hair over a complete defect of posterior arch in spina bifida occulta D. Meningocele E. Myelomeningocele F. Rachischisis
18
Q

What is the Chiari II malformation?

A

Condition in which brain tissue extends into the spinal canal, present at birth

19
Q

What is anencephaly?

A
  • Absence of the cranial vault and cerebral hemispheres
  • Most common neural tube defect
  • Portions of the midbrain and brainstem may be present
    Associated facial features:
    Microphthalmia: Small eyes
    Macroglossia: Large tongue
    Severely shortened neck
20
Q

What are the epidemiological and clinical characteristics of anencephaly?

A
  • Most common neural tube defect
  • Incidence: ~1 in 1,000 pregnancies in the U.S.
    More common in:
    Females (4:1)
    Caucasians vs. African-Americans (6:1)
    Caused by: Failure of cranial end of neural tube to close
    Recurrence risk: 2–3% if prior pregnancy had an open NTD

Prognosis:
Up to 50% end in fetal demise
Most of the remainder die at birth or shortly after
Diagnosis: Often made prenatally via ultrasound, especially after elevated maternal serum AFP levels

21
Q

What is the role of folate during pregnancy?

A
  • Folate is essential for DNA, RNA, and amino acid synthesis. During pregnancy, higher folate levels are needed due to rapid cell and tissue growth.
  • Inadequate folate can impair DNA synthesis and fetal development.
22
Q

What does an alpha-fetoprotein (AFP) test measure?

A
  • AFP is a protein made by the fetal liver
  • Small amounts cross into the mother’s blood and can be measured in the second trimester
23
Q

Name some conditions indicated by abnormal AFP levels.

A
  • Neural tube defects (e.g., spina bifida, anecephaly)
  • Down syndrome
  • Twins or multiples (icreased AFP)
  • Miscalculation of due date estimation
  • In open neural tube defects, AFP leaks into the amniotic sac, causing elevated levels in both maternal blood and amniotic fluid
24
Q

What are the characterizes of exencephaly and associated aomalies?

A

Sonographic findings:
* Absent cranial vault
* Presence of cerebral hemispheres
* Thin membrane covering exposed brain tissue
Associated anomalies:
* Clubfoot (talipes)
* Cleft lip and palate

25
What is an encephalocele and how does it differ from a cephalocele?
* **Encephalocele:** Herniation of meninges and brain tissue through a skull defect due to incomplete neural tube closure * **Cephalocele:** Herniation of meninges only * **Most common location:** Occipital region (back of the head) *Associated conditions:* **Spina bifida** (7–15% of cases) **Hydrocephalus** (in ~80% of cases)
26
What anomalies are commonly associated with encephalocele?
* Meckel-Gruber syndrome * Agenesis of the corpus callosum * Orofacial clefting * Dandy-Walker malformation * Arnold-Chiari malformation * Iniencephaly * Hydrocephalus * Polyhydramnios **Note**: Encephaloceles may be **isolated**, but **23% to 37.5%** are associated with other **CNS, extra-CNS anomalies**, or **genetic syndromes**, especially **Meckel-Gruber syndrome**.
27
What is Meckel-Gruber syndrome?
Lethal autosomal recessive condition **Classic triad:** * Occipital encephalocele * Large polycystic kidneys * Postaxial polydactyly **Associated abnormalities:** * Oral clefting * Genital anomalies **CNS malformations:** * Dandy-Walker malformation * Arnold-Chiari malformation Liver fibrosis Pulmonary hypoplasia (most common cause of death)
28
What is iniencephaly?
A rare neural tube defect characterized by exaggerated spinal lordosi, cervical rachischisis, and occipital encephalocele
29
What are the associated anomalies and sonographic findings of iniencephaly?
**Associad anomalies:** * Anencephaly * Diaphragmatic hernia * Pulmonary hypoplasia * Cardiac defects **Sonographic findings:** * Exaggerated cervical lordosis “stargazer” * Occipital bone defects * Short fused cervical vertebrae * Polyhydramnios
30
What is craniorachischisis?
Completely open brain and spinal cord
31
What are common associated abnormalities with spina bifida?
* Trisomy 18 * Trisomy 13 * Chiari II malformation * Hydrocephalus * Clubfoot * Rocker bottom foot
32
What are some sonographic findings associated with spina bifida?
* Lemon sign * Banana sign
33
What is Trisomy 21 commonly known as?
**Down syndrome** *Associated with: * * Nuchal thickness * Hygroma * Heart defects * Duodenal atresia * Shortened femurs * Mild pyelectasis * Mild ventriculomegaly * Echogenic bowel
34
What is the prevalence of atrioventricular septal defect (AVSD) and its association with Down syndrome?
* **AVSD is rare overall**, making up about **4% of congenital heart defects** in children * **Common in children with Down syndrome**, occurring in approximately **25%** of those cases
35
What are common heart defects associated with Trisomy 18?
► Heart defects ► Choroid plexus cysts ► Clenched hands ► Micrognathia ► Talipes ► Renal anomalies ► Cleft lip and palate ► Omphalocele ► CDH ► Heart defects ► Omphalocele ► Renal anomalies ► Choroid plexus cysts
36
What are the survival rates for infants with Trisomy 13 (Patau syndrome)?
* **Survival rates**: * Most die **in utero** or are **stillborn** * Only **20% survive the first month** * Only **5% survive the first six months** ## Footnote Most die in utero or are stillborn
37
What are the common anomalies associated with Trisomy 13?
* **Common anomalies**: * **Holoprosencephaly** * **Heart defects** * **Cleft lip and palate** * **Omphalocele** * **Polydactyly** * **Talipes (clubfoot)** * **Echogenic chordae tendineae** * **Renal anomalies** * **Meningomyelocele** * **Micrognathia**