What is the NIPT (Non Invasive Prenatal Test?)
The NIPT is a non-invasive prenatal test (NIPT) with gender test that analyses the cell-free Fetal DNA circulating in the pregnant mother’s blood. It is a new option for testing for Down Syndrome (trisomy 21) and other common fetal chromosome abnormalities such as Edwards Syndrome (Trisomy 18) and Patau Syndrome (Trisomy 13). It will also test for abnormalities in the number of X and Y chromosomes which can be associated with malformations and infertility. Turners Syndrome (45x) and Klinefelters syndrome (47xxy), Triple syndrome and XYY syndrome. This test does not screen for non-chromosome disorders, familial mutations, fetal growth or fetal viability.
What Are the Costs of a NIPT Test?
NIPT – £450 from 10 weeks
Who is the NIPT Test for?
Who Carries Out the NIPT Test?
Dr. Penman performs all the scans, takes the blood sample, fills out all the necessary paperwork, and will explain the results to you.
The sample along with your personal information (including name, date of birth, gestational age) is sent to the laboratory-based in London where the test is completed. The result is back in 2-4 working days upon receipt of the sample.
Why Have a Scan with Dr. Penman?
Dr. Penman is a Consultant Fetal Medicine Specialist. So not only is he a Consultant Obstetrician and Gynaegologist, but he has also undertaken extra specialist training in Fetal Medicine.
This higher level of expertise ensures that you receive the best possible care when you have your scan.
What are the Abnormalities That the NIPT Detects?
The test detects Down Syndrome (trisomy 21) and other common fetal chromosome abnormalities – Edwards Syndrome (Trisomy 18) and Patau Syndrome (Trisomy 13). It will also test for abnormalities in the number of X and Y chromosomes which can be associated with malformations and infertility. Turners Syndrome (45x) and Klinefelters syndrome (47xxy), Triple syndrome and XYY syndrome. This test does not screen for non-chromosome disorders, familial mutations, fetal growth or fetal viability.
Down Syndrome (trisomy 21)
This is the most common trisomy at the time of birth. It is associated with moderate to severe intellectual disabilities and may also lead to digestive disease and congenital heart disease and other malformations.
Edwards Syndrome (trisomy 18) and Patau Syndrome (trisomy 13)
These are associated with a high rate of miscarriage. These babies are born with severe brain abnormalities and often have congenital heart defects as well as other defects. Most affected individuals die before or soon after birth and very few survive beyond the first year of life.
Fetal Sex Chromosome Abnormalities
The NIPT can also be used to evaluate X and Y sex chromosomes as early as 10 weeks. You have the option to test for conditions caused by having an extra or missing copy of the X or Y chromosomes, including Turner and Klinefelter Syndromes (please note this is ONLY available for singleton pregnancies)
PLEASE NOTE: The NIPT does not assess the risk for mosaicism, partial trisomies, or translocations, maternal aneuploidy, transplant or malignancy and neural tube defects. With the complex nature of the test, it is not possible to offer accurate sex chromosome results for twin pregnancies.
How Accurate is the NIPT?
The NIPT has exceptional accuracy for detecting fetal trisomies.
After the test, the number of women required to have a CVS or amniocentesis is less than 1%.
The test looks for fetal DNA in the mother’s blood. The test identifies:
- 99.9% of fetuses with Down Syndrome (trisomy 21)
- 99.9% of fetuses with Edwards Syndrome (trisomy 18)
- 99.9% of fetuses with Patau Syndrome (trisomy 13)
- X/Y chromosome abnormalities
The testing is non-invasive; no samples are required to be taken directly from around your baby. The test is done by simply collecting a blood sample from the mother’s vein in her arm.
PLEASE NOTE: The NIPT is an advanced screening test rather than a diagnostic test. It does NOT detect 100% of cases of trisomy 13, 18, or 21.
What Does the NIPT Package Include?
- Blood draw for the NIPT
- One ultrasound appointment where Dr Penman will conduct the appropriate scan for stage of pregnancy
- Full pre-test counselling from Dr Penman and explanation of results
- The results will be communicated to you by phone or email within 2-4 working days and, where necessary, a further visit to Dr Penman’s clinic to discuss the results will be arranged at no additional cost
Are There Any Risks to the NIPT Test?
The NIPT is a non-invasive prenatal testing that simply involves taking a blood sample from the mother.
There is NO RISK to the pregnancy, unlike invasive testing procedures such as amniocentesis or chorionic villus sampling (CVS).
When Will I Get the Results?
The NIPT results will be ready in approximately 2-4 working days. Dr. Penman will email you with the results.
The time taken for the results is an estimate and given as a guide. Should there be any issues with the laboratory, we will keep you informed, but these are out of our control.
PLEASE NOTE: Very occasionally, the blood tested will not have sufficient fetal DNA to be tested and will not pass the quality checks that NIPT Laboratory place on the test. If this is the case, a repeat blood test will be taken free of charge, two weeks after the first test to ensure that sufficient DNA is available. This very occasionally happens with the tests done close to 10 weeks.
Please be reassured that any delay in receiving your results does not indicate any issues with your baby, it is simply that the laboratory are being very specific and accurate with their results, checking that the detailed process has been performed correctly and up to their exacting standards.
Dr Penman always relays the results to you as soon as they arrive to him. So please understand that once your blood is going through testing, we have no control over the time frame.