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Somewhat school work > Genetics > Flashcards

Genetics Flashcards

1
Q

when can congenital disorders occur

A

they are abnormalities that can be present at birth or manifest later in life

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2
Q

what percentage of children have congenital abnormalities

A

about 6%

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3
Q

what is the percentage of under 5 mortality rate is due to congenital disorders

A

24%

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4
Q

in which countries is the prevalence of neural tube defects higher

A

low to middle income countries

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5
Q

how many people have spina bifida

A

about 7 million

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6
Q

what is the commonest birth defect involving the of the CNS

A

spina bifida

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7
Q

what factors are responsible for causing neural tube defects and congenital disorders

A

Genetic and Environmental

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8
Q

what type of genetic pattern is associated with neural tube defects and congenital disorders

A

multifactorial pattern

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9
Q

what chromosomal abnormalities can cause neural tube defects

A

trisomy 18 (Edward syndrome)
trisomy 13 ( Patau syndrome)
triploidy
microdeletion
duplication

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10
Q

what single gene disorders can cause NTD

A

Currarino syndrome and Meckel Gruber syndrome

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11
Q

what is the difference between nature and nurture

A

nature refers to genetic association
nurture refers takes into account external factors

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12
Q

what types of twins do we have

A

Monozygotic and Dizygotic

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13
Q

what are concordant traits

A

both members of a twin pair share a trait

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14
Q

what is a Discordant trait

A

a twin pair does not share a trait

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15
Q

what happens in adoption studies

A

they separate genetics and environment, this can involve growing each member of a twin pair at two different locations that have a completely different environment

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16
Q

what is heritability

A

it refers to a trait or disease is the proportion of the total variance that is genetic

17
Q

what genes are related to folate metabolism

A

MHTFR 667 C->T
the relevance to south africa is limited by clinical utility

18
Q

what genetic factors are related to NTD

A

Epigenetic factors
folate metabolism genes
twin concordance
other metabolic genes
genes related to neural tube development

19
Q

what genes are related to neural tube development

A

genes of planar cell polarization
SHH - involved in neural tube bending
genes related to cytoskeleton
genes related to cell survival

20
Q

what does epigenetics refer to?

A

mitotically heritable changes in gene expression that occur without changes in DNA sequence

21
Q

what environmental factors are involved in NTD

A

seasonal variations
geographical variations (Transkie rate is higher than cape town)
nutrition
twins

22
Q

what factors are teratogenic and lead to NTD

A
  • insulin dependent DM - the risk ration increases by 11 for congenital disorders
  • Anticonvulsants such as sodium valproate and carbamazepine
  • folate antagonists such as methotrexate ( but not at low dose)
  • ARVs (Dolutegrovir had initial concerns but now they dont think it has an association)
  • Alcohol
23
Q

what are the prevention measures that can be taken

A
  • improve health, nutrition and antenatal care
  • family planning and spacing
  • detect any current disease and treat/manage it before conception
  • genetic counselling
  • avoid teratogens such as alcohol, drugs and medication
24
Q

what is the dose of preconceptual folate supplementation

A
  • 0.4 mg daily
  • 4 mg daily for those at high risk and this include:
    women whom the previous child has a NTD
  • 1st degree relative with NTD
  • parent with NTD
  • potential teratogen risk
25
Q

when do you screen for NTD

A
  • spinal bifida (15 -18) weeks
  • MMC during second trimester
  • anencephaly during first trimester
  • anueploidy are screened for in the second trimester
  • all women at risk should get fetal anomaly scan between 18 to 22 weeks of gestation
26
Q

diagnosis of Congenital disorders

A

MRI
amniocentesis is not used in the even of elevated AFP.

27
Q

genetic counselling in NTD

A

understanding management
understanding risk of recurrence
understanding options to deal with recurrence
understanding the way heredity contributes
understanding medical facts and implications, course and prognisis

28
Q

genetic counselling sessions are made of which three components

A
  • information gathering (history from patients)
  • information giving (results and possible thing to expect)
  • planning ( investigations, pregnancy management options and follow up including support)
29
Q

what does recurrence of NTD depend on

A

population incidence
relationship to affected individual
number of affected family member
periconceptual folate

30
Q

what falls under postnatal care?

A

delivery plan
assess for other abnormalities
avoid sepsis
plan for early closure
monitor hydrocephalus
long term care by MDT

31
Q

L1/2 function

A

hip flexion

32
Q

L3 function

A

knee extension

33
Q

L4 function

A

ankle dorsiflexion

34
Q

L5 function

A

External hallucis longus

35
Q

S1 function

A

Ankle plantarflexion

36
Q

S2

A

foot intrinsics

37
Q

S3/4

A

sphincters

38
Q

what happens with myelomeningocoele

A

challenges with motor and sensory function
implications for mobility and bowel/bladder function

Somewhat school work (13 decks)

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