About our test
We offer a non-invasive prenatal test for fetal aneuploidies requires just a simple maternal blood sample to determine whether there are too many or too few copies of fetal chromosomes in the sample analyzed. You can get the test done once you reach your 10th week of pregnancy and it has 0% risk for the unborn baby and mother.
Down’s Syndrome: Get the facts
In order to know what to expect in the test results you should understand what Down’s syndrome is. Humans have 46 chromosomes per cell. A person with Down’s syndrome has 47 chromosomes instead of 46. The cause of this abnormality is a duplicate copy of the 21st chromosome.
The result of this full or partial duplication is a series of different symptoms and characteristics, depending on the person, other genetics, and how much of the chromosome was duplicated or deleted. It is important to know whether or not your child may be born with this disorder as your doctor could suggest performing further diagnostic tests. Besides, this test will help you be prepared for having a child with special needs.
Down syndrome is one of the more common chromosomal abnormalities.
The NIPT test we offer looks for the following conditions:
- Trisomy 21 (Down syndrome)
- Trisomy 18 (Edwards syndrome)
- Trisomy 13 (Patau syndrome)
Speak to your doctor
Whilst any pregnant woman can take this test, we must emphasise the importance of consulting your doctor. The test is usually offered to pregnant women identified by their doctor as having a higher chance of fetal aneuploidy (for example, women who conceive after 35 years of age are at an elevated risk).
The testing process
In order to start the screening, the expectant mother will need to provide a single blood sample. The blood will need to be collected by someone qualified to carry out a blood draw using the kit we provide.
Once the blood is analyzed, scientists will test chromosomes 13, 18, and 21, as well as the sex chromosomes for abnormalities. The results will be noted in an easy to read format and sent to you. The results take only 5 working days from receipt of samples, which is ideal for parents who are seeking answers as soon as possible.
Important: A doctor will need to collect the blood sample required for this test. The sample collection kit will need to be sent directly to your doctor. Kindly ensure you provide us with your doctor’s address so that we can send the kit directly to them.
Results of the test
The NIPT test results will tell you how likely it is that the fetus carries any of the chromosomal abnormalities tested for.
Your test report will include one of three possible results for chromosomes 13, 18, and 21.
- No Aneuploidy Detected,
- Aneuploidy Detected,
- Aneuploidy Suspected (Borderline Value)
Sex chromosomes will be reported as No Aneuploidy Detected, or Aneuploidy Detected. In the case of a twin pregnancy, the Y chromosome presence will be reported as Detected or Not Detected.
After the results plus additional information
A negative result does not mean that all chromosomal abnormalities related to trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), or trisomy 13 (Patau syndrome) can be excluded. Although this is a very accurate screening test, it is not a diagnostic test. If the results come back positive, additional testing may be required. If the tests show that you have a very low chance of having a child with Down’s syndrome due with this test, there may not be any additional testing needed.
Support in Ireland
Down Syndrome Ireland (DSI) is dedicated to being the primary source of information and support to people with Down syndrome, their families and the professional community, working towards an improved quality of life for our members along with a respect and acceptance of people with Down syndrome as valued members of Irish Society.