RCSI Women's Health

What abnormalities can be diagnosed prenatally?

A wide range of abnormalities affecting the development of a healthy baby can be diagnosed prenatally. These include:
  • Chromosomal abnormalities (in which the baby has too many or too few chromosomes, such as Down syndrome)
  • Cardiac abnormalities (in which the chambers of the baby's heart, or the blood vessels connected to the heart, fail to develop normally, such as "hole in the heart")
  • Spine and head abnormalities (in which the bones of the spine or skull fail to develop normally, such as spina bifida)
  • Genetic conditions (in which the baby inherits abnormal genes from one or both parents, such as cystic fibrosis)

It is important to realise that prenatal tests cannot guarantee that your baby is going to be completely normal. This is because many medical conditions that affect children's health do not have suitable prenatal tests available yet, such as autism and cerebral palsy. You should discuss your particular concerns directly with your doctor to figure out if special additional tests might be suitable for your particular needs.

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