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Fundamentals Block 1 > Perinatal and Placental Pathology > Flashcards

Perinatal and Placental Pathology Flashcards

1
Q

What are the five major types of congenital anomalies?

A
  1. Malformation
  2. Malformation syndrome
  3. Disruption
  4. Deformationhat
  5. Sequence
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2
Q

What is a “major” congenital anamoly?

What percent of neonates have one?

A

a lesion that has functional or cosmetic significance.

About 3% of neonates have one

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3
Q

What are two examples of congenital defects that might not be apparent from birth?

A
  1. Renal agenesis- the other kidney can maintain function

2. minor heart defects

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4
Q

What is a malformation?

A

a primary error of morphogenesis that begins at gestation

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5
Q

What is the typical cause of a malformation?

A

they are multifactorial (not usually a single gene or chromosomal defect)

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6
Q

What are examples of malformation?

A

Polydactyly
Structural heart disease
Renal Agenesis
Cleft lip and palate

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7
Q

Does malformation have a risk for recurrence?

A

yes

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8
Q

What is a malformation syndrome?

A

Recurring pattern of symptoms that have a single underlying cause

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9
Q

What causes a malformation syndrome?

A

a single underlying cause like chromosomal abnormality or single gene defect

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10
Q

What are some of the defects associated with trisomy 18?

A

rocker foot, overlapping fingers

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11
Q

What is Meckel-Gruber syndrome associated with? What type of congenital defect is it?

A

It is a malformation syndrome and it results in encephalocele, poly/syndactyly

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12
Q

What is a disruption?

A

secondary destruction of an organ or body region that was previously normal.

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13
Q

What causes a disruption?

A

extrinsic disturbance not present at the beginning of morphogenesis

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14
Q

Does malformation syndrome have a chance for recurrence?

A

yes

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15
Q

Does disruption have a chance for recurrence?

A

no

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16
Q

What are examples of disruptions?

A
  1. amniotic band wrapping around appendages
  2. intrauterine viral infection
  3. toxins (FAS)
  4. vascular accidents
  5. maternal diabetes
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17
Q

What is deformation?

A

extrinsic disturbances on a body part or organ that was already formed. It can occur during embryogenesis or post-natally

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18
Q

What is the main cause of deformation?

A

localized or general compression of growing fetus, or abnormal fetal position

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19
Q

What causes uterine constraint?

A
  1. wk 35-38 the fetus increases rapidly in size w/o increasing uterine size
  2. amniotic fluid decrease
  3. bicornuate uterus
  4. small uterus, first pregnancy
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20
Q

What is a sequence?

A

multiple congenital anomalies that result as secondary effects of the first abnormality

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21
Q

What can cause the start of a sequence?

A
  1. malformation
  2. disruption
  3. deformation
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22
Q

What is the prime example of a congenital defect sequence?

Describe how it occurs.

A

Oligohydramnios Sequence (Potter’s)

  1. There is not enough fluid in the amniotic sac due to renal insufficiency, chronic leakage, uteroplacental
  2. As a result the fetus is compressed
  3. flat face, positional abnormalities of hands and feet, dislocated hips, delayed growth of chest wall->pulmonary hypoplasia
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23
Q

A baby comes to you that has a flattened face, displaced hands and feet, dislocated hips and pulmonary hypoplasia. What type of congenital defect is this?

A

oligohydramnios sequence (Potter’s)

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24
Q

Describe Robin’s sequence.

A 
The initial insult is a malformed mandible before wk 9 gestation.
This causes :
-micrognathia
-glossoptosis (back and down tongue)
-cleft soft palate
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25
What is the most frequent cause of malformation?
unknown (40-60%) next would be: multifactorial (20-25%)
26
Do all genetically caused congenital malformations have a risk of recurrence? If no, what would not carry a risk?
Genetic changes that occured during gametogenesis and do not have familial inheritence would not have a recurrence risk
27
What are the four types of genetic malformations?
1. non-familial (spontaneous mutation) 2. Mendelian inheritance (achondroplasia) 3. Chromosomal syndrome (13,18,21, turners, klinefelters) 4. single gene abnormalities
28
What are two examples of single gene abnormalities that can lead to congenital defects?
1. holoencephaly- sonic hedgehog signaling pathway | 2. alagille syndrome - jag1 mutation
29
What are the four major causes of environmental malformation congenital defects?
1. viral infections (TORCH) 2. drugs/toxins 3. maternal disease states (diabetes) 4. radiation
30
When is the fetus most susceptible to teratogens?
wk 3-8 whcih is when organogenesis is occuring
31
What are examples of multifactorial causes of congenital malformations?
1. cleft lip/palate 2. cardiac defects 3. neural tube defects
32
What is a normal term of gestation?
37-42 weeks
33
How much is a full term infant expected to weigh?
atleast 2500 g
34
What are the two highest causes of neonatal mortality?
1. congenital defects | 2. premature birth
35
What are the cut-offs for: 1. low birth weight 2. very low birth weight 3. extremely low birth weight
1. under 2500 2. under 1500 3. under 1000 g
36
What is a symmetric growth restriction?
there is a proportional reduction in size/weight of all organs including the brain
37
What are the causes of symmetric growth restriction?
chromosomal abnormalities malformation syndrome congenital infection
38
What is asymmetric growth restriction?
brain retains normal size but all other organs are small size/weight
39
What causes asymmetric growth restriction?
compromised uroplacental blood supply. | Severity of the growth restriction depends on the onset time during gestation
40
What are the fetal causes of asymmetric growth restriction? (3)
1. reduced growth despite adequate nutrition from mother 2. chromosomal abnormality 3. TORCH
41
What are placental factors that cause asymmetric growth restriction? (5)
1. factors that disrupt uteroplacental blood flow 2. placenta previa (low in uterus) 3. placental infarction 4. SGA placenta so not adequate nutrition 5. placental abruption (pulls away)
42
What are the maternal factors causing asymmetric growth restriction? (3)
1. maternal vascular disease, preeclampsia 2. chronic hypertension 3. malnutrition
43
Is maternal, placental or fetal causes the most prevelant for causing asymmetric growth restriction?
maternal
44
What maternal indictations would cause one to examine the placenta?
1. maternal disease 2. preterm delivery 3. infection, hemorrage 4. oligohydramnios or polyhydramnios 5. meconium
45
What are fetal indications to examine the placenta?
1. perinatal death 2. ICU admission 3. major congenital anomalies
46
What are the two ways infections can reach the placenta/amniotic sac?
1. ascending | 2. hematogenous
47
What is an ascending infection?
The placenta becomes infected by normal flora or bacteria from the vagina or cervix
48
What is a hematogenous infection?
One where the infection enters via the maternal bloodstream (viral infections)
49
What is acute chorioamnionitis?
It is an inflammatory preplacental lesion that arises from ascending infections
50
What viruses can cause acute chorioamnionitis?
herpes simplex
51
What bacteria can cause acute chorioamnionitis?
1. enteric (E. coli) 2. coagulase neg staph 3. anaerobic strep 4. group B strep
52
What is the fetal response to acute chorioamnionitis?
inflammation of fetal vessels (in umbilical cord and on chorionic plate)
53
What is the effect of acute chorioamnionitis?
1. preterm labor 2. placental abruption 3. rupturing of membranes
54
When is chorioamnionitis most likely to occur during the pregnancy?
18-22 weeks
55
What are bacterial causes of hematogenous infection of the placenta?
syphilis, TB, listeriosos
56
What are viral causes of hematogenous infection?
TORCH
57
What are fungal and parasitic causes of hematogenous infections?
fungal- Candida | Parasitic - T. gondii, malaria
58
What do hematogenous infections cause?
inflammation of the villi and maternal vascular spaces
59
When is chorioamnionitis most likely to occur during the pregnancy?
18-22 weeks
60
What are bacterial causes of hematogenous infection of the placenta?
syphilis, TB, listeriosos
61
What are viral causes of hematogenous infection?
TORCH
62
What are fungal and parasitic causes of hematogenous infections?
fungal- Candida | Parasitic - T. gondii, malaria
63
What do hematogenous infections cause?
inflammation of the villi and maternal vascular spaces

Fundamentals Block 1 (7 decks)

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