What is Prenatal Testing?

This is mostly used to assess the baby's chromosomal makeup, but it can also determine a large number of hereditary conditions such as cystic fibrosis or thalassaemia.

Most people have 46 chromosomes which contain all the genetic material. Two of these codes are for gender, XY for male and XX for female.

The prenatal tests include:
Chorion Villus Sampling (CVS)
Amniocentesis
Fetal Blood Sampling

The fetal cells obtained are grown on culture media and then analyzed. All the chromosomes are strained and show a banding pattern with a similar appearance to a barcode, each being slightly different.

The analysis will determine if there are the correct number of chromosomes and if the pattern of each is correct.

Who should have prenatal testing?

These tests are available to all women, but most would only have testing if they were at an increased risk of having a baby with a genetic problem. This may be due to the mother's age, family history, structural abnormality of the body or the result of a screening test like Nuchal Translucency, Triple Test or Cystic Fibrosis Testing.

Information Brochure

Prenatal Diagnosis ~ Special Tests for Your Baby During Pregnancy

Two examinations, Chorionic Villus Sampling and Amniocentesis, are discussed in this brochure. These examinations can identify chromosome abnormalities in the baby that may lead to conditions such as spina bifida and Down syndrome.  

Testing for Cystic Fibrosis

Cystic fibrosis (CF) is a common inherited condition, affecting one in every 2,500 babies born in Australia. Testing is available to all couples with a family history of CF, prior to a planned pregnancy, early in pregnancy, or to males with a history of infertility.