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Life Cycle > LC Exam 2: Birth defects > Flashcards

LC Exam 2: Birth defects Flashcards

1
Q

Causes of birth defects

A

Infection: ToRCHES
Maternal dz: PKU, DM
Drugs: EtOH, folic antag, tetraogens
Most: multifactorial and unknown

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2
Q

Size cutoff for placental transport

A

<500 Da

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3
Q

Classifications of anomalies

A

Malformations: intrinsically abnml development process
Deformations: mechanical compression/restriction
Disruptions: destruction of developing tissue

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4
Q

DiGeorge abnormalities

A 
22q11.2
CATCH-22
Cardiac abmnl (tetraology: Pass HOV)
Abnml face
Thymic hypoplasia
Cleft palate
Hypocalcemia
**isotretinoin = phenocopy, +small ears, TBX-1 inhibition**
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5
Q

Developmental field

A

Group of tissues that respond as single developmental unit

Can be similar gene expression, location, timing, or processes

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6
Q

VACTERL association

A 
Vertebral
Anal atresia
Cardiac
Tracheal/Esophageal
Renal
Limb
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7
Q

Rubella infection by trimester

A

1st: cardiac, deafness, retionpathy/cataracts
2nd: cataracts, inflammatory/destuctive lesions
3rd: inflammatory/destuctive lesions

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8
Q

Neural tube defects: multifactorial

A 
Single gene defects
Chr d/o
Tertaogen
Amniotic bands
Folic acid (diet, MTHFR gene, methotrexate)
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9
Q

Targeted screening

A

Screen with hx

Examine highest risk group for rare dz

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10
Q

Population screening

A

Whole pop

Can opt out

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11
Q

Screening vs. diagnosis

A

Screening identifies risk, need for dx

Diagnosis test is gold standard, definitive answer

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12
Q

Estimating GA: US

A

Screening test
Low, low risk
More accurate earlier in pregnancy
After 20 days, can be off by 2-3 weeks

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13
Q

Measurement for GA

A

Crown-rump length

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14
Q

Does Molly like tacos?

A

Text 720-947-9469 to find out (message: Does Molly like tacos)

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15
Q

Cervical length helps to predict what?

A

Preterm birth - shorter = higher risk
Possible with bimanual
More specific with US

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16
Q

Cervical shape changes on US

A

T rust
Y our
V aginal
U ltrasound

17
Q

Good US age estimations in 2nd trimester

A

Biparietal diameter
Abdominal circumference
Femur length

18
Q

Good US age estimations in 1st trimester

A

Gestational sac measurement
CRL
Placenta location can help locate

19
Q

NTD serum markers

A

Elevated MS-AFP (main dx. marker)

Normal uE3 and HCG

20
Q

Trisomy 21 serum markers

A 
Decreased MS-AFP
Decreased uE3
Increased HCG
Increased inhibin A
Decreased PAPP-A
21
Q

Trisomy 18 serum markers

A

Decreased MS-AFP
Decreased uE3
Decreased HCG
Decreased PAPP-A

22
Q

Trisomy 13 serum markers

A

Decreased PAPP-A

23
Q

Cell free DNA testing advantages

A

Non-invasive, no miscarrage risk
High sen/spe
Available after 10 weeks
Good for aneuploidy

24
Q

Screening vs. diagnosis

A

Screening identifies risk, need for dx

Diagnosis test is gold standard, definitive answer

Life Cycle (21 decks)

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