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What is a NIPT Test and what should you expect?

April 23, 2023, 23:04 nipt

A commonly used test is the Non-Invasive Prenatal Test (NIPT), also known as the Prenatal Test. The test is designed to screen the foetus for genetic conditions and chromosomal abnormalities.

Pregnancy can be both an exciting and nerve-wracking experience for expectant parents. With so much to prepare for, it’s essential to ensure the health and wellbeing of both the mother and the baby. One way to do this is through prenatal testing, which can provide valuable information about the developing foetus.

In this article, we’ll take a closer look at NIPT tests, how they work, and what you can expect from the testing process. Let’s get started.

What is a NIPT?

During your pregnancy, ensuring the health of your unborn child is paramount. Non-Invasive Prenatal Testing (NIPT) can help give you peace of mind. NIPT is a screening test that involves an ultrasound and blood test. It examines small fragments of DNA called cell-free DNA (cfDNA), which come from the placenta and are isolated from your blood to determine the risk of Down’s, Edwards’, or Patau’s Syndromes.

The Prenatal Test is a type of NIPT that can detect several chromosomal conditions as early as 10 weeks of gestation. It is highly accurate and can assess sex chromosome anomalies, including Turner and Klinefelter syndromes.

The test is suitable for both single and twin pregnancies. However, in non-identical twin pregnancies, it cannot give you a twin-specific chance of tested conditions. The test is also effective for IVF and surrogate pregnancies, ensuring all expecting parents can receive the critical information about their baby’s health they need.

NIPT can provide much-needed reassurance during early pregnancy, allowing you to feel confident and comfortable about your baby’s growth and development. Keep in mind, however, that NIPT is a screening test and not a diagnostic test, so if a high risk is indicated, further testing is required. Nevertheless, NIPT is a valuable tool in prenatal care.

When can I get a NIPT test?

One of the benefits of a NIPT is that it can be performed at different stages of pregnancy. You can undergo NIPT from 10 weeks of gestation, earlier than other invasive diagnostic tests. This gives you more time to prepare for and respond to any possible outcomes.

NIPT can also be performed later in pregnancy, up to 40 weeks of gestation. This can be helpful for pregnant people who did not have the opportunity to have the test earlier in their pregnancy or those who may have had a previous pregnancy with a genetic condition.

Your pregnancy journey is unique and personal. Discuss the timing of your NIPT test with your healthcare provider, as well as any other prenatal tests you may need. They can help you determine the best time to test based on your needs and circumstances.

Finally, remember that a NIPT is a personal choice and not mandatory. You should never feel pressured to take the test if you don’t want to. It’s important to make a choice that supports you on your pregnancy journey.

What to expect throughout the procedure

If you are considering a Prenatal Test, it’s natural to have questions about what the procedure involves. Here’s what you can expect from the process:

Step 1: Preparing for your NIPT Test

Before the NIPT test, drink a few glasses of water an hour before your ultrasound. This will help improve the visibility of your baby during the scan.

Step 2: Ultrasound scan

A NIPT is performed in two parts, both of which are non-invasive. The first part involves an ultrasound scan, which is safe for you and your baby and doesn’t use radiation. This scan will confirm that you are at the 10-plus-week gestational mark.

Step 3: Blood sample

After the ultrasound, a sample of your blood will be drawn from your arm. The sample will be sent to a specialist laboratory for analysis, where a technician will examine it for any chromosomal abnormalities.

Step 4: Your NIPT Test Results

Your results will be sent to your healthcare provider in three to five business days. The specialist who analysed your blood sample will provide your healthcare provider with a report outlining your baby’s risk for various chromosomal conditions.

Step 5: Post-procedure care

After the blood test and early pregnancy ultrasound, there is no special care or downtime required. You can resume your regular diet and daily activities, including exercise, unless advised otherwise by your doctor. However, your doctor may give you additional or alternative instructions depending on your results — follow these carefully.

What might you find in a NIPT?

A NIPT screening tool can help detect some chromosomal conditions in your developing baby. Here are some of the things that you might find in a NIPT:

High or low chance of chromosomal conditions

NIPT results can indicate whether your baby has a high or low probability of having trisomy 21, trisomy 18, or trisomy 13. A high likelihood of a condition does not mean your baby definitely has it. Further testing, such as Chorionic Villus Sampling (CVS) or amniocentesis, can provide a more accurate diagnosis. If the test results show less than a 1 in 10,000 chance of trisomy 21, trisomy 18, or trisomy 13, the likelihood of your baby having one of these conditions is very low.

Sex of your baby

The Prenatal Test can determine the sex of your baby. This information can be beneficial if you want to know the sex of your baby early on in your pregnancy or if you want to plan ahead for a gender reveal.

Sex chromosome aneuploidy

NIPT can also detect sex chromosome aneuploidy, which is a condition that occurs when a baby has differences in the number of X and Y chromosomes. This can cause learning and behavioural difficulties, as well as other health concerns in some cases.

Monosomy X or Turner Syndrome

NIPT can also detect Monosomy X or Turner Syndrome, which is a condition that occurs in females missing an X chromosome. Babies with Turner Syndrome may have heart, learning, or endocrine problems.

Before your appointment, you might wish to discuss any concerns or questions about these conditions with your healthcare provider. You can receive additional information and resources from your doctor to help you understand what’s being tested.

NIPTs are highly accurate and can identify 99 per cent of pregnancies with trisomy 21. Additionally, the Prenatal Test has a low false-positive rate of 0.1 per cent, meaning that it’s unlikely for the test to incorrectly identify a condition when the baby is healthy.

What do NIPT Test results look like?

When you receive the results of your NIPT test, they will be categorised into three possibilities: low chance, increased chance, or inconclusive.

If the results show a low chance, it is very unlikely that your baby is affected by Down’s, Edwards’, or Patau’s Syndromes. However, if the results indicate an increased chance, it means there is a higher possibility that your baby will be affected by one of these conditions.

Remember that a confirmation test is required for all increased chance results, as in some cases, the DNA from the placenta may not accurately represent the baby’s DNA. Your doctor may recommend invasive diagnostic tests, such as CVS or amniocentesis, for a definitive diagnosis.

If a result cannot be produced, the test has failed. This could be due to a small number of cases where there is not enough baby DNA in your blood to produce a result. In these instances, two blood samples will be collected. If the test fails twice, it will be reported as a failed test.

Sometimes, the result may be inconclusive, which means that the result is unclear, and a likelihood cannot be calculated. While this can happen on rare occasions — about 5 per cent of the time — there is no need to stress or worry. If you receive an inconclusive result, our specialist will contact you and advise you on what to do next.

Your doctor or midwife may want to know the results of the Prenatal Test and may ask for a copy. If you have any concerns about your test results, we can organise for you to discuss them with our friendly on-site consultant obstetricians. They can help guide you through the following steps.

Schedule your NIPT now

Prenatal testing can provide important information about your baby’s health and give you peace of mind during your pregnancy. The NIPT test is a reliable option for screening genetic conditions and chromosomal abnormalities.

Get in touch today if you’re interested in booking a NIPT test. The process is quick, easy, and non-invasive. Schedule your appointment and take the next step toward a healthy pregnancy and a happy, healthy baby.

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