Developmental pathology Flashcards

1
Q

Differentiate embryo vs fetus

A

embryo from conception to end of week 8

fetus from week 9 through birth

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2
Q

What are the products of conception?

A

embryo/ fetus + placenta

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3
Q

What timeframe defines the neonate period?

A

first 4 weeks of extrauterine life

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4
Q

What is the difference between developmental age and gestational age?

A

Developmental age: conception until birth or intrauterine demise.
Gestational age: same as menstrual age, from LMP until removal or delivery of conceptus (starts 2 weeks earlier)

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5
Q

What is occurring during balstogenesis?

A

Developmental fields established, heart forms, neural tube closes, primordial organ buds form

fertilization through week 4

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6
Q

What is occurring during organogenesis?

A

primitive organs form

weeks 5-8

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7
Q

Teratogenic insults are most likely to cause organ/ localized limb defects during _____

A

organogenesis, the second 4 weeks of embryogenesis

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8
Q

What is occurring during phenogenesis?

A

organ development and growth

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9
Q

What types of defects occur during phenogenesis?

A

syndromes, sequences, deformations

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10
Q

Differentiate intrinsic vs extrinsic abnormalities

A

intrinsic: abnormal cell/ development from the start
extrinsic: external forces alter otherwise normal development

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11
Q

Intrinsic abnormalities include _____ whereas extrinsic abnormalities include ________

A

malformations, dysplasias

deformations, teratogenic disruptions

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12
Q

Differentiate malformation vs deformation

A

Malformation: any abnormally formed organ or tissue
Deformation: abnormal form, shape, or position of a body part caused by external mechanical forces

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13
Q

List some possible causes of deformations

A

oligohydramnios
malformed uterus
leiomyomata
major fetal CNS defects that limit motility

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14
Q

Distinguish talipes calcaneovalgus vs talipes equinovarus

A

Valgus: angle of deformity points toward midline
Varus: angle of deformity points away from midline

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15
Q

A _____ is a group of multiple anomalies that are derived from a single cause or prior anomaly

A

sequence

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16
Q

Describe the Potter sequence

A

result of oligohydramnios

renal agenesis/ aminotic leak–> oligohydramnios–> fetal compression–> pulmonary hypoplasia, altered/ deformed facies, positioning defects of hands and feet, breech presentation

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17
Q

A ____ is a pattern of congenital anomalies pathogenetically related but not explained by a single localized initiating defect

A

syndrome

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18
Q

List the most common caues of congenital anomalies

A

chromosomal abnormalities
environmental
single gene mutations

by far most common are multifactorial and undetermined

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19
Q

List features of Down syndrome

A

cardiac defects, single simian palmar crease, macroglossia, eye abnormalities, leukemias, dementia

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20
Q

List features of Edwards syndrome (trisomy 18)

A

micrognathia, overlapping fingers

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21
Q

List features of Patau syndrome (trisomy 13)

A

polydactyly, palate clefts, micropthalmia

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22
Q

Peak sensitivity to ____ is during the fourth and fifth weeks of embryogenesis

A

teratogens

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23
Q

List drugs/ chemicals that are known teratogens

A
thalidomide
valproic acid
vitamin A
alcohol
warfarin
radiation
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24
Q

_____ causes limb anomalies in exposed fetuses

A

thalidomide

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25
Q

_____ disrupts the HOX transcription factor proteins involved in limb, vertebral, and craniofacial structure positioning

A

valproic acid

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26
Q

_____ causes CNS, cardiac, and craniofacial defects esp cleft lip/ palate in exposed fetuses

A

retinoic acid, ex acutane

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27
Q

Fetuses exposed to ____ have abnormal facies, atrial septal defects, and prenatal and postnatal growth retardation

A

alcohol

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28
Q

What anomalies can be present in the fetuses of mothers with poorly controlled diabetes

A

macrosomnia, congenital heart defects, neural tube defects, pancreatic hyperplasia and hypoglycemia after delivery

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29
Q

______ is an anti-neoplastic drug similar to thalidomide

A

lenalidomide

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30
Q

_____ downregulates wingless (WNT) signaling, causing congenital malformations

A

Thalidomide

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31
Q

____ disrupts TGF-B signaling

A

retinoic acid

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32
Q

List the most common congenital infections and the most common route of infection

A

TORCHS: toxoplasmosis, rubella, CMV, HSV, syphilis

usually transplacental, except HSV which is acquired durign birth

33
Q

List three common defects seen in congenital ifnections

A

Eyes- retinitis, cataracts
Heart defects
Deafness- CN VIII damage

34
Q

For toxoplasmosis, risk of transmission is highest ____, but severity of malformations is greatest _____

A

risk of transmission increases with gestational age

severity of malformation is highest with early infection

35
Q

Chorioretinitis is a common manifestation of congenital _____

A

toxoplasmosis

36
Q

Risk of transmission of congenital rubella is highest ____

A

early- first trimester, esp first 8 weeks

37
Q

List the components of the rubella tetrad

A

cataracts
heart defects esp PDA
deafness
mental retardation

38
Q

PDA is associated with congenital ______ infection

A

rubella

39
Q

____ infection in the second trimester results in mental retardation, microcephaly, deafness, hepatosplenomegaly

A

CMV

40
Q

CMV is characterized by ______

A

chronic villitis

41
Q

____ infection is acquired during birth and can be limited to external manifestations or disseminated

A

HSV

42
Q

List the external manifestations of congenital herpes

A

SEM: skin, eyes, mucous membranes

43
Q

List the complications of disseminated congenital herpes

A

meningitis, liver involvement

44
Q

Distinguish early/ infantile from late/ tardive congenital syphilis

A

infantile: first two years of life, nasal congestion, bullous skin rash, hepatosplenomegaly, saddle nose, saber shins
tardive: manifests after two years. Hutchinson triad of notched central incisors, interstitial keratitis, deafness

45
Q

Immune hydrops fetalis is often associated with:

A

Rh incompatibility between mother and neonate leading to hemolytic disease of newborn

46
Q

List three major causes of non-immune hydrops fetalis

A

cardiovascular defects
chromosomal abnormalities esp Turners
non-immune fetal anemia esp parvovirus B19

47
Q

Define hydrops fetalis

A

severe diffuse edema of soft tissues and multiple effusions in body cavities

48
Q

____ is a serious complication of hydrops fetalis associated with excessive RBC estruction

A

kernicterus

49
Q

Kernicterus tends to affect the ______

A

basal ganglia (deposition of bilirubin)

50
Q

What is a cystic hygroma?

A

fluid accumulation in the lymphatic channels of the posterior neck, like localized fetal hydrops but due to a structural defect not RBC destruction

51
Q

Cystic hygroma is highly associated with ______

A

Turners, 45X

52
Q

Omphalocele is a _____ defect whereas gastroschisis is a ____ defect

A

umbilical cord defect

abdominal wall defect

53
Q

In ______ intestines are covered by a membranous sac and other anomalies are often present. In ____ the loops of bowel are not covered by a sac but it is often an isolated anomaly

A

omphalocele

gastroschisis

54
Q

List causes of oligohydramnios

A
urethral obstruction (prune belly)
renal anomalies (Potter sequence)
55
Q

List causes of polyhydramnios

A

esophageal atresia

56
Q

Describe prune belly syndrome/ sequence

A

urethral obstruction
prune like belly with wrinkled skin, absent abdominal musculature
dilated bladder, hydroureters, hydronephrosis leading to renal dysplasia from backflow of urine

57
Q

What parameters define small for gestational age, appropriate for gestational age, large for gestational age, and intrauterine growth restriction?

A

AGA: birth weight in 10th-90th percentile for gestational age
SGA: birth weight less than 10th percentile for gestational age
LGA: birth weight greater than 90th percentile for gestational age
IUGR: fetus is small for gestational age based on ultrasound measurements

58
Q

Symmetric/ proportionate fetal growth restriction is often due to ____ factors where as asymmetric growth restriction is often due to _____ factors

A

symmetric: fetal factors such as chromosomal defect or global insult like TORCHS infection
asymmetric: placental/ maternal factors like placental insufficiency, placenta previa or abruption

59
Q

_____ fetal growth restriction is diagnosed earlier in gestation and is generally less common

A

symmetric

asymmetric: diagnosed later, more common

60
Q

Describe the vasculature of a normal umbilical cord

A

two umbilical arteries, one vein

61
Q

Fetal infections acquired by the _____ route do not cause malformations, but are a risk for preterm delivery

A

transcervical

62
Q

Fetal infections acquired by the ______ route typically cause malformations and are acquired earlier in pregnancy

A

hematogenous/ transplacental- usually viruses and parasites, TORCHS

63
Q

Lymphocytes or plasma cells in the villi suggest:

A

chronic transplacental infection, if unknown etiology may be autoimmine

64
Q

List manifestations of fetal infection with parvovirus B19

A

fetal anemia, hydrops, extramedullary hematopoiesis

65
Q

Distinguish PPROM from PROM

A

PPROM: preterm premature rupture of membranes, membrane rupture before 37 weeks

PROM: premature rupture of membranes, rupture before labor but after 37 weeks

66
Q

List causes associated with premature delivery

A
many....
mutiple gestation
structural abnormalities of uterus, cervix
smoking, drugs, alcohol
poor maternal nutrition
chronic maternal disease 
trauma/ injury
ascending infections
67
Q

______ infections can cause premature rupture of membranes, and PROM itself is a risk to these types of infections

A

Trans-cervical/ ascending

68
Q

______ is characterized by maternal neutrophilic response to ascending infections, where as ______ is characterized by fetal neutrophils marginating in the cord

A

chorioamnionitis

vasculitis/ funisitis

69
Q

List two organisms that cause early onset perinatal sepsis and two organisms that cause late onset perinatal sepsis

A

early: E coli, GBS
late: listeria, candida

70
Q

List the three most common causes of neonatal meningitis

A

E coli
GBS
Listeria

71
Q

List manifestations of immature brain/ CNS due to preterm delivery

A

germinal matrix hemorrhage

72
Q

List manifestations of immature GI tract

A

necrotizing enterocolitis

73
Q

List manifestations of immature heart

A

PDA

74
Q

List manifestations of an immature liver

A

physiologic jaundice, kernicterus

75
Q

List manifestations of immature lungs

A

hyaline membrane disease

76
Q

______ given to a mother prior to impending delivery of a premature infant can help induce surfactant synthesis

A

glucocorticoids

77
Q

Describe the steps/ processes in respiratory distress syndrome

A
  • Atelectasis
  • Hypoxemia
  • CO2 retention
  • Acidosis
  • Poor pulmonary perfusion
  • Cellular damage
  • Leakage of plasma and fibrin
  • Hyaline membranes
    (fibrin, fibrinogen, cell debris)
  • Hyalin membranes
78
Q

List the major complications of infantile respiratory distress syndrome

A

bronchopulmonary dysplasia and retinopathy of prematurity (via VEGF).

79
Q

List classical characteristics of bronchopulmonary dysplasia

A

epithelial hyperplasia
interstitial fibrosis
alveolar wall thickening