Genomic sin OB/GYN Flashcards

1
Q

African American A/S conditions

A
  • SCD
  • CF
  • B-Thal
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2
Q

Ashkenazi Jew A/S Conditions

A
  • Gaucher Dx
  • CF
  • Tay-Sachs
  • Dysautonomia
  • Canavan Dx
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3
Q

Asain S/S conditions

A
  • A + B - Thal
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4
Q

Triple Screen Conditions/results

A
  • NTDs: Very high AFP; Very Low estriol
  • Trisomy 21: Low AFP/Estriol; High hCG
  • Trisomy 18: Low AFP/hCG; Very low Estriol
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5
Q

Maternal Nuchal Translucency Screening

A
  • 1st trimester
  • 90% detection
  • easy fingerstick blood draw
  • Does NOT detect NTDs
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