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Medical Genetics > genetic counseling > Flashcards

genetic counseling Flashcards

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1
Q

dysmorphology/morphogenesis

A

abnormal physical dev.

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2
Q

teratology`

A

study of environmental causes of congenital anomalies

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3
Q

what can malformation be due to?

A

chromosome abnormalities, single gene disorders, teratogens, multifactorial, pregnancies complications, unknown

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4
Q

the cause of ____ of congenital defects is unknown or multifactorial

A

2/3

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5
Q

a known genetic component of congenital defects is in about _____% of cases

A

30%

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6
Q

environmental causes for congenital anomalies are _______

A

infrequent

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7
Q

malformation?

A

primary defect of an organ or body part from an abnormal developmental process

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8
Q

malformation examples

A

spina bifida, polydactyly, cleft lip

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9
Q

dysplasia?

A

primary defect involving abnormal organization of cells into tissues

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10
Q

dysplasia examples?

A

port wein stains, hip dysplasia, pointy teeth

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11
Q

sequence

A

primary defect with secondary structural changes; basically one thing goes wrong which causes a cascade of other events to occur

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12
Q

sequence example

A

potter sequence

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13
Q

what is potter sequence

A

less amniotic fluid got to the fetus from renal disease/obstruction which caused clubbed feet, pulmonary hypoplasia, and cranial anomalies

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14
Q

syndrome?

A

pattern of multiple primary malformations with a single gene causing it; malformation are UNRELATED!!

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15
Q

syndrome example

A

down syndrome

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16
Q

deformation?

A

changes in the form, shape, or position of a normally formed body part from mechanical forces; this is a secondary alteration

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17
Q

deformation example

A

plagiocephaly, clubfoot

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18
Q

disruption?

A

defect of an organ, part of an organ, or larger region of the body because something interfered with development

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19
Q

disruption example

A

amniotic band

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20
Q

most important question to ask when evaluating a child with a congenital malformation

A

is the defect isolated or part of a syndrome

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21
Q

teratogens?

A

agents that cause birth defects when present in the environment of a developing fetus

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22
Q

these act directly and transiently on developing embryonic tissue

A

teratogens

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23
Q

are individual thresholds for teratogen effects predictible

A

NO

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24
Q

organs and parts of an embryo are most sensitive to teratogenic agents during periods of __________

A

rapid differentiation

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25
Q

3 principles to consider when there is a teratogenic exposure

A

critical period, dosage of drug/chemical, genotype of embryo

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26
Q

critical period?

A

when cell division, differentiation, and morphogenesis is at its peak

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27
Q

each tissue and organ has its ____ critical period

A

own

28
Q

critical period for brain is ________ but continues _____ after birth

A

3-16 wks gestation; 2 yrs

29
Q

_____ and _____ dev. also continues after birth

A

tooth and skeletal

30
Q

if a teratogen is exposed in the first 2 wks of pregnancy, what occurs?

A

it interferes with cleavage and implantation a miscarriage will occur

31
Q

if a teratogen is exposed during 3-8 wks of pregnancy, what occurs?

A

major congenital anomalies and functional defects

32
Q

if a teratogen is exposed during 9-38 wks of pregnancy, what occurs?

A

functional defects and minor anomalies

33
Q

one of the most severe outcomes of alcohol use during pregnancy

A

fetal alcohol spectrum disorder (FASD)

34
Q

FASD?

A

physical, behavioral, and cognitive abnormalities due to alcohol intake during pregnancy

35
Q

cardinal facial features of FASD

A

small palpebral fissures, smooth philtrum, thin upper lip

36
Q

hallmark feature of FASD

A

smooth philtrum

37
Q

what disorder has a “railroad track ear”

A

FASD

38
Q

effects of anti-epileptic drugs during pregnancy?

A

broad spectrum, but congenital heart disease, clefting, and NTD

39
Q

the risk of antiepileptic drugs affecting pregnancy may vary due to this

A

dosage of the drug

40
Q

valproate?

A

antiepileptic drug that can cause birth defects

41
Q

fetal valproate syndrome sx

A

limb defects, heart defects, spina bifida, hypospadias, dec fetal growth, characteristic craniofacial appearance

42
Q

these drugs can increase ones risk for a birth defect if taken during pregnancy

A

warfarin/coumadin, retinoic acid, valproate

43
Q

if you take this drug while pregnant, the syndrome the baby may get is identical to a severe form of chondrodysplasia punctata

A

warfarin/coumadin

44
Q

high perinatal and fetal loss, skeletal defects like nasohypoplasia and stippled epiphyses, CNS abnormalities, eye and hearing abnormalities, IUGR, congenital heart disease

A

manifestations of taking warfarin/coumadin while pregnant

45
Q

microtia, conotruncal abnormalities, cardiac malformations, posterior fossa malformations, thymus and parathyroid malformations

A

retinoic acid

46
Q

this drug causes abnormalities of neural crest and branchial arch derived structures

A

retinoic acid

47
Q

what is retinoic acid used to treat

A

medication used to treat acne

48
Q

this can prevent NTD like spina bifida and anencephaly

A

folic acid

49
Q

how much folic acid should every woman of reproductive age take daily

A

400 mcg

50
Q

NTD occur _____ gestation

A

14-28 days

51
Q

genetic counseling was a term first coined by ______ in _____

A

Sheldon Reed in 1947

52
Q

process of genetic counseling?

A

interpretation of family and medical hx, educate pt about inheritance, testing, management, prevention, and resources, counseling

53
Q

prenatal, peds, cancer, cardiology, neurology, metabolic syndromes, specialty clinics, research, advocacy groups, labs

A

where genetic counselors work

54
Q

what does Bayes theorem do

A

a way to identify the probability of an outcome by considering all initial possibilities then modifying it with other information; risk of getting a disease

55
Q

prior probability?

A

baseline likelihood or having or not having a mutation

56
Q

conditional probability?

A

probability of NOT developing a disease

57
Q

joint probability?

A

probability of having a mutation AND not developing disease

58
Q

if something is XLR, there is a ____% chance of being a carrier of the condition

A

50

59
Q

what happens in a typical genetic counseling session?

A

collect FH and personal hx- educate and assess risk- discuss options for genetic testing and medical management- follow up

60
Q

what do you need for an accurate dx of a genetic test

A

at least 3 generations on a pedigree, dx confirmed with medical records, multiple specialists to evaluate, understanding of variability, penetrance, and age of onset, familiarity with testing options, and understanding modes of inheritance

61
Q

why might we see a negative FH in someone with a genetic disease?

A

de novo mutation, autosomal recessive, chromosome abnormality, variable expression, reduced penetrance, anticipation, sex linked traits, false paternity

62
Q

what is the benefit for pt in nondirective genetic counseling

A

pt can make independent informed decisions without coersion

63
Q

how is nondirective genetic counseling established

A

counselor sets goals, counselor provides info in unbiased manner, counselor does not give personal beliefs

64
Q

when might genetic counselors be directive?

A

testing minors of adult onset conditions, unstable pt, encouraging pt to share results with family members, discussion about screening/management

65
Q

what do we need to inform pts of before getting genetic testing

A

risks, related medical information, possible options, medical outcomes

66
Q

7 steps in plan to full decision making

A
  1. identify decision to be made
  2. gather relevant info
  3. identify options
  4. weigh evidence
  5. choose among options
  6. take action
  7. review decision and its consequences
67
Q

purpose of genetic counseling?

A

help individual or family:

  1. comprehend- dx
  2. appreciate- hereditary and risk of recurrence
  3. understand alternatives
  4. choose course of action
  5. make- good adjustment

Medical Genetics (15 decks)

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