Genetic Conditions Related to Pregnancy Flashcards
1
Q
what are the advanages/disadvantages of non-invasive prenatal testing/diagnosis?
A
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