Genetic Conditions Related to Pregnancy Flashcards

1
Q

what are the advanages/disadvantages of non-invasive prenatal testing/diagnosis?

A
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2
Q

which conditions can be diagnosed with newborn bloodspot screening?

A
  • sickle cell disease(SCD)
  • cystic fibrosis(CF)
  • congenital hypothyroidism(CHT)
  • phenylketonuria(PKU)
  • medium-chain acyl-CoA dehydrogenase deficiency(MCADD)
  • maple syrup urine disease(MSUD)
  • isovaleric acidaemia(IVA)
  • glutaric aciduria type 1(GA1)
  • homocystinuria(HCU) – SMA being considered
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