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NIPT FAQs, Accuracy & Timeframe

What is non-invasive prenatal testing?

A non-invasive prenatal test (NIPT) is a blood test of the mother that estimates the chance of selected chromosome conditions being present in her developing baby.

Every person has millions of tiny DNA fragments in the bloodstream. This is a normal process. In a pregnant woman, most of these fragments come from the mother, and some come from the baby’s placenta. The baby and the placenta grow from the same fertilised egg, and so the placenta’s DNA fragments are almost always the same as those from the developing baby. NIPT works by examining these tiny fragments of DNA in the mother’s blood and determining the chance that the fragments reveal a chromosome condition in the placenta and developing baby.

What does NIPT screen for?

Standard NIPT

The main purpose of NIPT is to screen for three common chromosome conditions:

• Down syndrome (trisomy of chromosome 21)
• Edwards syndrome (trisomy of chromosome 18)
• Patau syndrome (trisomy of chromosome 13)

These conditions are caused by the presence of three copies of a particular chromosome (“trisomy”) in every cell of the baby’s body rather than the usual two copies. Each of these conditions causes moderate to profound intellectual disability and is associated with major congenital malformations. The links above provide more information about each syndrome. The chance of a developing baby having one of these syndromes increases with the age of the mother; your doctor can provide you with advice about this.

Assessment for these trisomies is the most accurate NIPT.

NIPT can also screen for abnormal numbers of sex chromosomes. Males usually have an X and a Y chromosome; females have two X chromosomes. On request from your doctor, NIPT can screen for the presence of more or less than two sex chromosomes for no additional charge. This includes screening for:

• Turner syndrome (having only one sex chromosome, an X)
• Klinefelter syndrome (having three sex chromosomes, two Xs and a Y)

These sex chromosome conditions are usually clinically milder than the common trisomies.

NIPT can also detect other abnormalities in the number of sex chromosomes (XXX and XYY) that have little impact on a person’s growth and development.

The links provide more information.

As a separate option, NIPT can also screen for the presence of DNA from a Y chromosome (the male chromosome), indicating the sex of the developing baby. Note that the result of screening the sex chromosomes may indicate the sex of the developing baby, regardless of whether screening for the fetal sex is selected. In a twin pregnancy, the presence of DNA from a Y chromosome is interpreted as there being one or two male fetuses.

Assessment of sex chromosomes by NIPT is very accurate, but not as accurate as standard NIPT.

NIPT can also screen for two other types of chromosome abnormality:

• Gain or loss of a segment of a chromosome; these changes, if confirmed, are often associated with fetal abnormalities
• A mixture of chromosomally normal and abnormal cells; this abnormality is often confined to the placenta and can interfere with normal fetal growth.  

Please note that the NIPT provided by Sonic Genetics is a highly accurate screen for specific conditions. It is not a screen for every possible condition that a developing fetus may have. NIPT is just one of the investigations that your doctor may recommend for you before or during your pregnancy.

How accurate is NIPT?

NIPT is more accurate than traditional screening tests for chromosome conditions such as ultrasound and conventional blood tests. It is much better at correctly identifying whether the baby has, or does not have, the condition being screened. This means that your doctor is less likely to recommend an additional invasive test (amniocentesis or chorionic villus sample) to confirm the genetic status of your fetus.

However, NIPT is not perfect. It is still important that your doctor reviews all the relevant tests about your pregnancy, and you may be advised to have additional tests as part of your care.

NIPT is a complex and sophisticated test. A more detailed description of the accuracy of NIPT, and how we measure this, can be read here.

How long does the test take?

Your results are typically sent to your doctor in 3–8 business days from the day your blood sample was received in one of our testing laboratories. 

Is NIPT risky?

Collecting a blood sample from you for NIPT poses no threat to your pregnancy.

Do I still need an ultrasound?

Your doctor will advise you about the tests you should have, and when they should occur. As a general rule, we recommend that a woman have an ultrasound before the blood sample for NIPT is collected. The ultrasound will:

• confirm the stage and viability of the pregnancy; NIPT has not been validated for use before 10 weeks' gestation
• examine for the presence of twins; NIPT has not been validated for use with triplet pregnancies
• identify major malformations affecting the baby that would not be detected by NIPT

Can NIPT detect fetal sex?

NIPT can screen for the presence of a Y chromosome (the male sex chromosome). This option is available on request from your doctor at no additional cost. If Y chromosome material is detected, this means that the fetus is almost certainly male. If no Y chromosome material is detected, this means that the fetus is almost certainly female. For twin pregnancies, the presence of Y chromosome material indicates the presence of one or two male fetuses.

This screening test for fetal sex is correct in more than 99% of pregnancies. However, there is a small chance that the fetal sex determined by NIPT differs from the actual sex of the fetus. This may be due to the placenta and the fetus having different sex chromosomes. This does not harm the fetus. We are pleased to provide a report on the sex of developing fetus at your doctor’s request, but this is not the main purpose of the screen.

Is NIPT always correct?

For the great majority of women screened, NIPT correctly identifies the chromosome status of the developing fetus. However, there are rare instances in which NIPT reports a high chance of a condition and yet the developing fetus is unaffected, or conversely reports a low risk of a condition and yet the fetus is affected. These discrepancies are usually due to the chromosomes in the placenta being different to the chromosomes in developing fetus. The placenta and developing fetus arise from the same fertilised egg, but on rare occasions, a genetic abnormality may occur in one that does not occur in the other.

The chance of an NIPT result being incorrect varies according the condition being considered, the age of the mother, and the results of other tests that may have been ordered by your doctor. It is important that an NIPT be used as just one of the tests being considered by your doctor, and that the result is considered together with other investigations.

What if NIPT cannot make an assessment?

In up to 1% of patients, we may not be able to provide an assessment regarding every chromosome condition requested by your doctor. There may be insufficient DNA from the fetus and placenta in your blood for NIPT to give an accurate result, or there may be uncommon yet benign variations in certain DNA sequences in the mother or fetus that compromise the accuracy of the test. Depending on the underlying cause, we may recommend a re-collection with reanalysis (at no extra cost to you).

If we are unable to provide an assessment regarding the three common trisomies after one sample collection (or after two, if the laboratory requests a second collection), the credit card holder that paid Sonic Genetics for the test will be refunded in full upon request; please contact us on 1800 010 447.

Why should I choose Sonic to perform my NIPT?

When NIPT first became available in early 2013, we carefully evaluated the performance of different NIPT tests before deciding which test to use in our laboratories. In 2015, we implemented the Harmony® prenatal test in our Brisbane laboratory.

Over the next five years, we became a major provider of NIPT across Australia. During this time, test methods improved. In 2020, we installed a second type of NIPT called VeriSeq NIPT Solution v2 in our Sydney laboratory. Both types of NIPT provide comparable, high quality results and are used extensively throughout the world.  In December 2021, we withdrew the Harmony test for operational reasons.

·       Our NIPT is supervised by a team of genetic pathologists and medical scientists who can have a detailed discussion with your doctor about your result, should this be required

·       A blood sample for our NIPT can be collected from over 400 collection centres across Australia

If you have paid Sonic Genetics or a Sonic Pathology laboratory directly for your NIPT, we offer free telephone-based genetic counselling if you have a result that indicates an increased risk of a chromosome abnormality.

The information on this website is provided for your general information and is not a substitute for the specific advice of your treating doctor.

What is NIPT and how much does it cost?

Victoria Zorina

loves tests

Author profile

In Russia, pregnant women get two free screenings for fetal chromosomal abnormalities such as Down syndrome.

However, there is another fetal health screening called the non-invasive prenatal test, or NIPT. This test is paid - it costs from 25,000 R. In some cases, it helps to clarify the child's condition without puncturing the amniotic sac or uterine wall. I'll tell you how it is carried out and who really needs it. nine0003

See a doctor

Our articles are written with love for evidence-based medicine. We refer to authoritative sources and go to doctors with a good reputation for comments. But remember: the responsibility for your health lies with you and your doctor. We don't write prescriptions, we make recommendations. Relying on our point of view or not is up to you.

What is NIPT

A non-invasive prenatal test is a method that determines the risk of having a baby with certain genetic abnormalities. nine0003

What is NIPT and what diseases can it detect - Medline

Summary of NIPT recommendations - American Academy of Obstetrics and Gynecology

Non-invasive prenatal testing, NIPT - Australian Public Health

including piercing the fetal bladder, where the child is.

Research method. Material for research — maternal venous blood. Her plasma contains the extracellular DNA of the mother herself and the child, mainly fragments of placental DNA, which are usually identical to the DNA of the fetus. All living organisms have extracellular DNA, it is shorter than those molecules in the cell nucleus, and its function is not yet fully known. nine0003

The necessary fragments of genetic material are extracted from the blood in the laboratory and analyzed for chromosomal abnormalities - Down syndrome and others. The test can be done from about the tenth week of pregnancy.

Extracellular DNA and pregnancy - article on the site "Biomolecule"

NIPT works like this: they calculate the percentage of DNA for each fetal chromosome. Thus, it is possible to detect chromosomal disorders associated with the presence of an extra copy of a chromosome or the absence of one of the copies. nine0003

For example, if the amount of extracellular DNA is higher than normal for chromosomes of the 21st, 18th or 13th pairs, then the fetus has an increased likelihood of the corresponding trisomies - Down syndrome, Edwards syndrome or Patau.

NIPT is a screening procedure and may be prescribed by an OB/GYN or geneticist. A woman can also take the test of her own free will; this does not require a referral. In Russia, NIPT is not paid from the compulsory health insurance fund - it will not be possible to do a test for free.

But there is an exception: in Moscow, from 2020, it is possible to do a test at the expense of compulsory medical insurance if the risk of chromosomal pathology according to combined screening is in the range of 1:100 - 1:2500 and the pregnant woman has a Moscow residence permit. It can also be offered to pregnant women aged 35 years and older due to age-related risks. nine0003

Order of the Moscow Health Department No. 199

Is it necessary to confirm the diagnosis with an invasive test. If any non-invasive test showed that a pregnant woman has a high risk of having a child with chromosomal abnormalities, this does not mean that there really is a violation.

NIPT also does not make a diagnosis, but only assesses the likelihood of chromosomal abnormalities. Don't decide to terminate a pregnancy based on test results alone. nine0052

/list/down-syndrome/

10 awkward questions about Down syndrome

In Western countries, it is used as an additional screening test. None of the current NIPT tests are FDA-approved in the United States. The organization warns that there is a possibility of false results, and that a high risk for NIPT needs to be confirmed with a diagnostic test.

Diagnostic tests include invasive tests, such as amniocentesis, an analysis of amniotic fluid, for which you need to pierce the fetal bladder. The decision to conduct an invasive test is made by the woman. Some laboratories, such as Genomed, perform invasive testing free of charge if NIPT has shown the presence of a chromosomal abnormality. nine0003

Your choice after positive screening - Public Health England English

An invasive test is also recommended if free screening and NIPT show different results.

Invasive prenatal diagnosis — Mosgorzdrav

Is the test safe for the child. NIPT uses maternal venous blood, so it is completely safe for the fetus, like other blood tests. Unlike invasive tests - amniocentesis, cordocentesis, chorionbiopsy - NIPT does not require piercing the amniotic sac, umbilical vein, or uterine wall. nine0003

How NIPT differs from combined prenatal screening according to OMS

During the combined screening prescribed by OMS, ultrasound and a biochemical blood test for some compounds are done.

Order of the Ministry of Health of the Russian Federation on assistance in the field of Obstetrics and Gynecology, 2020

For example, in the first trimester it is the PAPP-A protein, which is often below normal in case of chromosomal abnormalities, and the hCG hormone. Such screening is done at 10-13 weeks of pregnancy. In the 19-21st week of pregnancy, a second screening is carried out. nine0003

The woman also fills out a special questionnaire to help clarify the risks. For example, indicates whether she smokes. This also includes age-related risks. The risk level is calculated based on all the data received: the ultrasound picture, the results of the blood test and the answers to the questionnaire.

Combination screening can only approximate the likelihood of a chromosomal abnormality. A non-invasive prenatal test will estimate the probability more accurately - for example, for Down syndrome, the accuracy can reach 9nine%. But, of course, he can be wrong.

/analiz-hgch/

HCG blood test: when and how much it costs

NIPT does not replace mandatory screenings. In the UK, from June 1, 2021, it is offered to pregnant women with a high risk of chromosomal abnormalities based on the results of combined screenings. And only if all the tests showed a high risk, an invasive study is done.

In what cases it is worth doing NIPT

Yulia Tarasova

Geneticist, network of clinics "Mother and Child"

NIPT is an excellent tool for assessing the risk of chromosomal abnormalities. Combined prenatal screening detects nine out of ten cases of Down syndrome, while there is a high probability of a false positive result. NIPT makes it possible to identify the very tenth case, avoiding unnecessary invasive diagnostic procedures.

In general, NIPT would replace combined prenatal screening were it not for the cost. This method has no other drawbacks, and you don’t even need to donate blood on an empty stomach. nine0003

However, NIPT also has limitations: even the most expanded panel does not reveal all possible genetic pathologies. Also, this test is not needed if abnormalities are detected by the results of ultrasound: it will lead to a loss of time, money and a false sense of security in case of a good result.

In this situation, you need to go to a geneticist and plan an invasive test: its diagnostic capabilities are wider, the time for obtaining the result is shorter, and this is the only way to make a diagnosis.

When choosing between the standard and extended NIPT panel, remember that the stated high test reliability only applies to the common chromosomal abnormalities included in the standard panel. These are Down, Edwards and Patau syndromes. Other pathologies are determined with less accuracy, false positive results are more common, and the cost of the test is higher. nine0003

Accuracy of the non-invasive prenatal test

The accuracy of NIPT in test instructions is estimated to be up to 99%, especially for Down syndrome. However, studies show different data. Let me remind you that this is a screening test, and it cannot be reliable in all 100% of cases.

Clinical benefit of extended NIPT for chromosomal abnormalities - Journal of the Association of Reproduction and Genetics

Non-invasive prenatal screening in multiple pregnancies - American Journal of Obstetrics and Gynecology

Thus, in a study involving 2139 pregnant women who underwent NIPT, all 100% of cases of Down, Edwards and Patau syndromes were identified. In another study, women with multiple pregnancies had five out of five cases of Down syndrome, one in one case of Patau syndrome, and a case of Edwards syndrome was false negative.

The same study cites an analysis of 11 other studies showing NIPT accuracy of 95% for Down syndrome, 82% for Edwards syndrome, and 80% for Patau syndrome. nine0003

NIPT, like other laboratory tests, has two characteristics.

Sensitivity indicates how well the test detects children with chromosomal disorders. According to some data, the sensitivity of the test for Down syndrome is about 99%, which means that 1% of the tested fetuses that have a pathology will be considered healthy by the test.

The specificity of indicates how well the test excludes healthy people. According to studies, the specificity of the test for trisomy reaches 99% and above, which means that he considers 1% of healthy fetuses to be sick.

/list/genetics/

13 important questions for geneticist Irina Zhegulina

Can NIPT analysis fail? NIPT may fail only for technical reasons: due to an unsuccessful blood test or laboratory error. In this case, you can request a second test for free.

What can be learned with NIPT

What fetal chromosomal abnormalities can be detected. nine0030 NIPT detects many chromosomal pathologies with high accuracy. All tests, except for those specialized for individual diseases, determine: