Genetic Testing

There is a possibility that your baby has a condition that might be associated with his or her genetic make-up. The genetic tests may help to decide whether this is the case.

In general, two types of genetic test are carried out:

1. Chromosome analysis – chromosomes are the structures within our cells that contain many genes (the packets of genetic material that we inherit). Chromosome analysis will look for abnormalities of chromosomes. If an abnormality is present it may help explain some or all aspects of your baby’s condition. In either case, the results will be discussed with you.
2. Analysis of a single gene – just one of the 30,000 genes in your baby is analysed in detail. This sort of test is highly specific and generally only gives information about a single genetic condition.

Your baby’s doctors will discuss which type of test (or tests) will be carried out. The laboratory will store some of the blood that is taken in case other tests are required later.

A small sample of blood will be taken for testing.

Benefits: Genetic testing allows early diagnosis of a problem.

Risks: Your baby may experience some discomfort during the blood test, although there are certain measures that can be taken to minimise this. Your nurse will discuss this with you betore the procedure. There may be a small bruise after the test.

The length of time it takes to get the results will vary from a few days to many weeks. Your baby’s doctors will keep you updated and discuss the results with you at the earliest opportunity. A referral to a genetic specialist may also be undertaken. That person will be able to answer other questions, such as, long-term outcomes and future pregnancies.

If a diagnosis is made through genetic testing it is sometimes appropriate to test other family members, such as parents and siblings, to determine whether the problem has been inherited. The doctor will discuss this with you it it becomes relevant for you and your baby.

Your doctor will be happy to discuss any questions you may have about genetic testing. You will be asked to give your consent to the investigation but you will not be asked to sign a specific consent form.

It is very important to understand that genetic testing may have implications for members of your family other than your baby.

If you have more questions, staff on the Children’s Elective Care Unit or Neonatal Ward can be contacted to to give you information and support, on 01206 744237 or 01206 742857.

This information is printed with permission from the Norfolk, Suffolk and Cambridgeshire Neonatal Network.