Set your mind at ease by taking the Non-Invasive Prenatal Test (NIPT) which screens your baby for certain chromosomal conditions. With just a blood test, we can detail the possibility of your baby having Down Syndrome, Edwards Syndrome or Patau Syndrome.
NIPT is a new screening test that helps us to identify if your baby is likely to have a chromosomal condition. Chromosomal conditions include:
Chromosomes contain the genetic material (DNA) and are usually arranged in pairs. The total number of chromosomes is 46. The ‘sex’ chromosomes (X and Y) determine whether you are male (46XY) or female (46XX).
The syndromes mentioned occur when an unborn baby develops with three copies of a particular chromosome instead of the two. Depending on the syndrome, the unborn baby may develop with significant abnormalities or malformations.
Some of the syndromes are fatal and the baby will die either before birth or shortly afterwards.
NIPT can also screen for certain abnormalities linked to the sex chromosomes. For example, Turner Syndrome occurs when there is a missing X chromosome in a girl.
NIPT is non-invasive. It ONLY involves taking a blood sample from the mother.
The blood test can be performed from 9 weeks of pregnancy onwards. There is no risk of miscarriage associated with this screening test.
Sometimes we may suggest that this test is undertaken later in pregnancy if certain abnormalities are seen during an ultrasound scan.
If you decide to have the test done, you will be given an appointment to attend the Fetal Medicine Department. As this test is an opt-in service there is a fee involved.
First, a sample of the mother’s blood is taken from her arm. The sample is tested and the results will be available 10 working days later. You will be contacted by one of the midwives or doctors from the Department of Fetal Medicine who will explain the test results to you.
An ultrasound scan will be performed to confirm how many weeks pregnant you are. Before the blood test is taken, the midwife will discuss the test with you and answer any questions you may have. You will be asked to sign a consent form for the test.
The test will not give a definitive result. Instead, it will give a ‘Low Risk’ or ‘High Risk’ result for
certain conditions.
A ‘High Risk’ result for a particular condition has 99% accuracy. In this situation, an invasive test such
as chorionic villus sampling (CVS) or an amniocentesis will be advised to confirm the diagnosis.
If the test shows a ‘Low Risk’ result, it is extremely unlikely that the unborn baby has one of the
syndromes that have been tested.
NIPT is the most accurate screening test currently available. However, the only way to know for sure whether the fetus has a chromosomal problem or not, is to have a diagnostic test such as CVS or an amniocentesis. These tests are invasive and carry a small risk of miscarriage (approximately 1.0% for CVS and 0.2% for amniocentesis).
If the NIPT test yields a low risk result, it is still highly recommended that an anatomy scan be performed at 20-22 weeks gestation to check for structural abnormalities. NIPT does not provide information on other rare chromosomal abnormalities or physical defects such as cardiac abnormalities or spina bifida.
There needs to be enough fetal DNA in the maternal blood sample to be able to provide a result. If there is insufficient fetal DNA in the sample, another maternal blood sample may be required. This happens in 3-4% of cases. There will be no extra charge for the second test. However, the result will be delayed.
The NIPT test currently being used in The Rotunda Hospital (Panorama® test) cannot be used to screen multiple pregnancies or those conceived with donor eggs. Information can be provided about other tests available.
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