indications for prenatal diagnosis

Last reviewed 08/2022

The indications for prenatal diagnosis are divided into those relevant before conception, and those relevant during pregnancy:

Risk factors at conception:

  • elevated maternal age
  • consanguinity
  • ethnic origin, e.g. where sickle cell anaemia is prevalent
  • family history
  • obstetric history
  • maternal illness or medication, e.g. toxoplasmosis or rubella
  • maternal exposure to teratogens, e.g. phenytoin treatment

Risk factors during pregnancy:

  • abnormalities on ultrasound
  • raised or decreased levels of alphafetoprotein
  • poly- or oligohydramnios
  • maternal infection, eg cytomegalovirus or Listeria
  • exposure to teratogens
  • exposure to radiation