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Office oral boards > Genetics > Flashcards

Genetics Flashcards

1
Q

What diseases are autosomal recessive

A

Cystic fibrosis
Tay Sachs
Phenylketonuria
Von Willebrands (2/3)
Alpha thal
Beta thal
Sickle cell
SMA
Gauchers

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2
Q

What diseases are autosomal dominant

A

Neurofibromatosis
Achondroplasia
Osteogenesis imperfecta
Huntington’s
Marfans
vWD (1/3)

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3
Q

What diseases are X-linked

A

Hemophilia
Fragile X
Duchenne’s muscular dystrophy
Red/green color blindness
G6PD deficiency

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4
Q

What diseases are multifactorial (genetic + environment)

A

Cleft lip/palette
Congenital heart disease

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5
Q

What is Turner’s syndrome

A

45 XO (gonadal disgenesis)

Characteristics: web neck, short, shield chest, cystic hygromas, cardiac and renal anomalies

Gyn implications:
- hypoestrogenic state
- no pubertal, breast devo or menarche
- Infertility (maybe in mosaics)
- increased risk of osteoporosis (HRT and Ca supplementation)

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6
Q

What are age specific risks of delivering infant with trisomy 21

A

Risk increases with age

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7
Q

How does trisomy 21 occur

A

Non-dysjunction–> failure of all chromatids to separate alone the metaphase plate during mitosis

Robertsonian translocation (increased risk of recurrence)–> a portion of one arm of a chromosome detaches and reattaches on another arm of a different chromosome
- balanced–> no chromosomal material lost
- unbalanced–> no material lost

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8
Q

How do you screen for aneuploidy

A

1st trimester screen
Triple screen
Quad screen
Integrated
Sequential
Contingent
Serum integrated
Cell free DNA
Nuchal translucency

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9
Q

What is the detection rate of Trisomy 13, 18 and 21 with cell free DNA

A

> 98%

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10
Q

How does cell free DNA work

A

Uses cell free fetal DNA from the plasma of maternal blood

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11
Q

What is amniocentesis vs chorionic villus sampling

A

Amniocentesis
- After 15 weeks
- Can assess AFP and NTD

CVS
- between 10-12 weeks
- Cannot assess NTD risk
- Samples tissue

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12
Q

What carrier screening should be done

A

All patients:

Cystic fibrosis
SMA
Hemoglobinopathies (CBC and electrophoresis or genetic testing)

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13
Q

What carrier testing is done for European/Jewish ancestry

A

Tay sachs
Cystic fibrosis
Canavan
Familial dysautonomia

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14
Q

How do you counsel for a pt wanting expanded carrier panel testing

A

Pre: may diagnosis a condition that is not an issue for fetus but can affect mother; may have abnormal results but it has unknown significance

Post: result based

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15
Q

What is fragile X syndrome

A

X linked recessive disease that occurs because of trinucleotide CGG repeats
- Permutation 50-200
- Mutation >200

Diagnostic testing done by PCR of souther blot

Most common cause of autism

Indications for screening
- known carrier
- intellectual disability or unknown etiology of fam hx of developmental delay
- unexplained ovarian insufficiency
- Autism

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16
Q

What is the occurrence/ reoccurrence risk of NTD

A

Gen pop: 0.3%
One affected child: 2-4%
Two affected kids: 10%

17
Q

What are the recs for NTD prophylaxis

A

No hx: 0.4mg folate/day
Positive hx: 4mg folate/day
Typical regular diet: 0.2mg folate/day

Should give folic acid tablets for higher doses, as other vitamins in prenatal can be toxic in high levels

Normally start 1 mo prior to pregnancy and continue through 1st trimester; if high risk start 3mo prior to pregnancy and continue through 1st trimester

18
Q

What are other causes of NTD not related to folate ingestion

A
  • Valproic acid in first trimester
  • High fetal glucose levels
  • First trimester fever or prolonged elevated maternal temp (sauna use)
  • Obesity
19
Q

How do you assess for NTD

A

msAFP, fetal anatomy scan at 18-22 weeks

20
Q

What is the difference between gastoschesis and omphalocele

A

Gastroschisis:
- 1:2500
- Right paraumbilical
- No membrane
- Abnormal embryo
- No associated genetic or structural anomalies

Omphalocele
- 1:5000
- Central (umbilical cord inserts at apex)
- Covering membrane
- Normal embryo at 9-11 weeks
- Liver herniation
- Associated with trisomies and other syndromes

Office oral boards (16 decks)

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