Screening for Patau's syndrome

You'll be offered a screening test for Patau's syndrome as well as Down's syndrome (trisomy 21) and Edwards' syndrome (trisomy 18) from 10-14 weeks of pregnancy. The test assesses your chances of having a baby with these syndromes.

The screening test offered at 10-14 weeks of pregnancy is called the combined test because it involves a blood test and an ultrasound scan .

If the screening tests show that you have a higher risk of having a baby with Patau's syndrome, you'll be offered a diagnostic test to find out for certain whether your baby has the syndrome.

This test will check your baby's chromosomes in asample of cells taken from him or her.

Two techniques can be used to obtain the cell sample amniocentesis or chorionic villus sampling (CVS) .These are invasive tests to remove a sample of tissue or fluid so it can be tested for the presence of the extra copy of chromosome 13.

A newer test has recently been developed wherea sample of blood from the mother is taken so that the baby's DNA found within it can be tested. This is known as non-invasive prenatal testing, and is only available privately.

If you're not able to have the combined screening test, you'll be offered a scanthat looks for physical abnormalities, including those found in Patau's syndrome.

This is sometimes called the mid-pregnancy scan and is carried outwhen you're between 18 and 21 weeks pregnant.

As a result of the severe health problems a newborn baby with the syndrome will have, doctors usually focus on minimising discomfort and ensuring the baby is able to feed.

For the small number of babies with Patau's syndrome who survive beyond the first few days of life, their care will depend on their specific symptoms and needs.

If your baby is diagnosed with Patau's syndrome, either before birth or shortly afterwards, you'll be offered counselling and support.