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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
Q

What is the most frequent cause of malformation?

A

unknown (40-60%)
next would be:
multifactorial (20-25%)

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26
Q

Do all genetically caused congenital malformations have a risk of recurrence? If no, what would not carry a risk?

A

Genetic changes that occured during gametogenesis and do not have familial inheritence would not have a recurrence risk

27
Q

What are the four types of genetic malformations?

A
  1. non-familial (spontaneous mutation)
  2. Mendelian inheritance (achondroplasia)
  3. Chromosomal syndrome (13,18,21, turners, klinefelters)
  4. single gene abnormalities
28
Q

What are two examples of single gene abnormalities that can lead to congenital defects?

A
  1. holoencephaly- sonic hedgehog signaling pathway

2. alagille syndrome - jag1 mutation

29
Q

What are the four major causes of environmental malformation congenital defects?

A
  1. viral infections (TORCH)
  2. drugs/toxins
  3. maternal disease states (diabetes)
  4. radiation
30
Q

When is the fetus most susceptible to teratogens?

A

wk 3-8 whcih is when organogenesis is occuring

31
Q

What are examples of multifactorial causes of congenital malformations?

A
  1. cleft lip/palate
  2. cardiac defects
  3. neural tube defects
32
Q

What is a normal term of gestation?

A

37-42 weeks

33
Q

How much is a full term infant expected to weigh?

A

atleast 2500 g

34
Q

What are the two highest causes of neonatal mortality?

A
  1. congenital defects

2. premature birth

35
Q

What are the cut-offs for:

  1. low birth weight
  2. very low birth weight
  3. extremely low birth weight
A
  1. under 2500
  2. under 1500
  3. under 1000 g
36
Q

What is a symmetric growth restriction?

A

there is a proportional reduction in size/weight of all organs including the brain

37
Q

What are the causes of symmetric growth restriction?

A

chromosomal abnormalities
malformation syndrome
congenital infection

38
Q

What is asymmetric growth restriction?

A

brain retains normal size but all other organs are small size/weight

39
Q

What causes asymmetric growth restriction?

A

compromised uroplacental blood supply.

Severity of the growth restriction depends on the onset time during gestation

40
Q

What are the fetal causes of asymmetric growth restriction? (3)

A
  1. reduced growth despite adequate nutrition from mother
  2. chromosomal abnormality
  3. TORCH
41
Q

What are placental factors that cause asymmetric growth restriction? (5)

A
  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
Q

What are the maternal factors causing asymmetric growth restriction? (3)

A
  1. maternal vascular disease, preeclampsia
  2. chronic hypertension
  3. malnutrition
43
Q

Is maternal, placental or fetal causes the most prevelant for causing asymmetric growth restriction?

A

maternal

44
Q

What maternal indictations would cause one to examine the placenta?

A
  1. maternal disease
  2. preterm delivery
  3. infection, hemorrage
  4. oligohydramnios or polyhydramnios
  5. meconium
45
Q

What are fetal indications to examine the placenta?

A
  1. perinatal death
  2. ICU admission
  3. major congenital anomalies
46
Q

What are the two ways infections can reach the placenta/amniotic sac?

A
  1. ascending

2. hematogenous

47
Q

What is an ascending infection?

A

The placenta becomes infected by normal flora or bacteria from the vagina or cervix

48
Q

What is a hematogenous infection?

A

One where the infection enters via the maternal bloodstream (viral infections)

49
Q

What is acute chorioamnionitis?

A

It is an inflammatory preplacental lesion that arises from ascending infections

50
Q

What viruses can cause acute chorioamnionitis?

A

herpes simplex

51
Q

What bacteria can cause acute chorioamnionitis?

A
  1. enteric (E. coli)
  2. coagulase neg staph
  3. anaerobic strep
  4. group B strep
52
Q

What is the fetal response to acute chorioamnionitis?

A

inflammation of fetal vessels (in umbilical cord and on chorionic plate)

53
Q

What is the effect of acute chorioamnionitis?

A
  1. preterm labor
  2. placental abruption
  3. rupturing of membranes
54
Q

When is chorioamnionitis most likely to occur during the pregnancy?

A

18-22 weeks

55
Q

What are bacterial causes of hematogenous infection of the placenta?

A

syphilis, TB, listeriosos

56
Q

What are viral causes of hematogenous infection?

A

TORCH

57
Q

What are fungal and parasitic causes of hematogenous infections?

A

fungal- Candida

Parasitic - T. gondii, malaria

58
Q

What do hematogenous infections cause?

A

inflammation of the villi and maternal vascular spaces

59
Q

When is chorioamnionitis most likely to occur during the pregnancy?

A

18-22 weeks

60
Q

What are bacterial causes of hematogenous infection of the placenta?

A

syphilis, TB, listeriosos

61
Q

What are viral causes of hematogenous infection?

A

TORCH

62
Q

What are fungal and parasitic causes of hematogenous infections?

A

fungal- Candida

Parasitic - T. gondii, malaria

63
Q

What do hematogenous infections cause?

A

inflammation of the villi and maternal vascular spaces

Fundamentals Block 1 (7 decks)

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