Genetic Conditions Related to Pregnancy

Question 1

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

Answer 1

Question 2

which conditions can be diagnosed with newborn bloodspot screening?

Answer 2

• 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