NIPT Test FAQs for Expectant Parents
Navigating pregnancy can be both an exciting and overwhelming experience, especially when it comes to making informed decisions about your baby's health. One of the most talked-about advancements in prenatal care is Non-Invasive Prenatal Testing (NIPT).
As expectant parents, you might have questions about what NIPT is, how it works, and what it can tell you about your baby. In this blog, we’ll address the most frequently asked questions about NIPT, helping you understand the benefits, limitations, and everything in between, so you can make the best choice for your growing family.
Read our FAQ’s here:
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NIPT is a cutting-edge, non-invasive antenatal screening test designed to screen for the likelihood of chromosome conditions such as Down Syndrome. By analysing small fragments of DNA from your pregnancy circulating in your blood as early as 11 weeks, NIPT offers a safe way to screen for chromosomal abnormalities across all 23 pairs of chromosomes.
NIPT is a blood test that looks at small pieces of DNA from your pregnancy. By looking at these pieces of DNA, percept NIPT can tell you if there’s an increased chance that your pregnancy may have a chromosome condition, such as Down syndrome.
percept NIPT can look at all 23 pairs of chromosomes, meaning it can screen for many chromosome conditions.
This can include:
The three most common chromosome conditions seen in pregnancy - Down syndrome, Edwards syndrome and Patau syndrome.
Less common conditions caused by changes to the number of chromosomes.
Conditions caused by changes to chromosome structure (missing or extra pieces of chromosomes).
Sex chromosome conditions caused by changes to the X and Y chromosomes (which determine the sex of the baby).
Testing can also identify the sex of your baby, should you wish to know after receiving your results.
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Description text A NIPT can deliver clear answers as early as 11 weeks. A NIPT offers a safe way to screen for some chromosomal abnormalities. This test can be administered anytime from 11 weeks of pregnancy.
We recommend that prior to having NIPT, the woman has an ultrasound to confirm the gestation of the pregnancy, the number of fetuses and that the pregnancy is viable. So, once you’ve had your dating scan, you can arrange for a NIPT.
You will need to be referred for NIPT. The referral can come from any registered health professional, eg, your Lead Maternity Carer (LMC).goes here
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The procedure for obtaining a NIPT test is straightforward and involves a simple blood test from the mother. This non-invasive nature makes it an appealing option for many expecting parents, avoiding the risks associated with invasive diagnostic tests like amniocentesis.
Preparing for NIPT is as simple as and making sure you’re informed of what it involves and understanding what you get from it.
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A NIPT is not funded in Aotearoa, New Zealand, so you will have to pay for the blood test and lab processing.
The percept cell-free DNA prenatal test is $695 NZ. This cost is subject to change.
For further information visit vcgs.org.au/perceptNIPT or call Wellington Obstetrics to make an appointment.
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The result will either be low risk, high risk or a test failure (no result).
Low Risk Result: Indicates it is unlikely your baby is affected by one of the screened conditions. However, a low-risk result is not a guarantee of a healthy pregnancy, as NIPT screens for specific chromosome conditions.
High Risk Result: Suggests an increased risk of the condition tested for. Confirmatory invasive testing is advised to determine the presence of the condition definitively.
No Result: Occasionally, NIPT may not provide sufficient information from the blood sample. In such cases, a second sample may be requested.
The NIPT test accuracy is impressive, with reported detection rates for trisomy 21 (Down Syndrome) being greater than 99% and false positive rates less than 1%. However, it's important to understand that while NIPT is highly accurate, it is not a diagnostic test.
A negative result significantly reduces the chance of chromosomal abnormalities to less than 1:10,000, but it does not completely rule them out.
For high-risk results, confirmatory invasive testing is recommended.
If you have a ‘high-risk’ result, you may be offered an optional diagnostic test after counselling to check whether the baby is affected or not. This would be performed by an invasive test (chorionic villous sampling/CVS or amniocentesis). Both of these tests carry risks and should be discussed with your lead healthcare provider.
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Expecting parents must be aware of the limitations of NIPT. The test does not screen for all fetal abnormalities. Certain conditions, particularly those involving structural changes to chromosomes or rare genetic disorders, may not be detected.
Additionally, individuals who have had a transplant, stem cell therapy, or are using donor eggs may not be suitable candidates for NIPT.
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When comparing first-trimester screening vs NIPT, it's important to note that NIPT offers a higher degree of accuracy and can be done earlier in the pregnancy. First trimester screening combines blood tests and ultrasound to evaluate risk, which does not have the same sensitivity as the NIPT test. Deciding between NIPT, amniocentesis, and other forms of screening should be based on individual circumstances and preferences, and after discussion with your healthcare provider.
NIPT or Amniocentesis?
NIPT is safer and less invasive but does not replace the diagnostic certainty of amniocentesis in certain situations.
If you have a ‘high-risk’ result, you may be offered an amniocentesis or another optional diagnostic test after counselling to check whether the baby is affected or not.
This would be performed by an invasive test, which carries unique risks and should be discussed with your lead healthcare provider.
At Wellington Obstetrics, we understand that the availability of various antenatal tests can be overwhelming. Our goal is to provide you with clear, compassionate guidance to make informed decisions about your antenatal care. Whether you're considering NIPT, carrier screening, or other antenatal screening, we're here to support you every step of the way, ensuring you and your baby receive the best possible care.
NIPT and carrier testing represent significant advancements in antenatal care, offering expecting parents peace of mind and valuable insights into their baby's health. By understanding these tests and discussing your options with your healthcare provider, you can navigate your pregnancy journey with confidence, prepared for whatever the future holds.
We're here to support you through every step of this incredible journey. Find out more about our obstetricians and how we can help you.