NIPT
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NIPT (Non-Invasive Prenatal Testing) is a blood test that allows for an early and safe assessment of the likelihood of chromosomal abnormalities in the fetus. By analyzing cell-free DNA from the mother's blood, NIPT can detect common aneuploidies such as trisomies 13, 18, and 21, as well as abnormalities in the sex chromosomes X and Y. NIPT is a simple blood test performed by healthcare professionals through a venous sample taken from the arm. You may experience slight soreness at the puncture site, but other side effects are rare. NIPT is highly reliable when no abnormalities are detected. If the NIPT test indicates an abnormality, follow-up tests such as amniocentesis or chorionic villus sampling (CVS) are recommended to confirm the result.
NIPT assesses the probability of chromosomal abnormalities such as Down syndrome, Patau syndrome, and Edwards syndrome. NIPT is recommended when aneuploidy is suspected in the fetus, meaning abnormalities in the number of chromosomes. This analysis specifically targets the following markers:
Test results are usually answered within 10 working days from the time the test was submitted.
NIPT can be performed as early as pregnancy week 10+0. However, it is most commonly offered from week 12+0, when a first-trimester anatomical screening is conducted following recommendations from the Ultra-ARG (Ultrasound Diagnostic Working and Reference Group). This screening helps ensure the fetus is developing normally and can assist in identifying potential abnormalities.
NIPT is conducted through massive parallel sequencing of cell-free DNA isolated from the mother's blood plasma. The analysis generates millions of short DNA sequences from both the fetus and the mother. If the fetus has an extra copy of one of the analyzed chromosomes (trisomy), there will be an increase in the number of DNA reads for that specific chromosome compared to reference chromosomes, enabling the detection of aneuploidies.
NIPT is a safe and reliable method for detecting chromosomal abnormalities in the fetus and can provide crucial information for further decision-making during pregnancy.
The expecting mother always has the final decision on whether to undergo prenatal screening. It may be beneficial to discuss the matter with the other parent and aim for a joint decision. However, if that is not possible, it is ultimately the expecting mother who decides.
Before visiting a reception for sampling, you need to do the following:
Activate referral and select reception
To activate your referral, simply follow the instructions that you will receive via email after completing the purchase. The email contains an activation code, by clicking on the link in the email you enter the flow to fill in any information, activate the referral and select reception in the sample answer service zample.
Before the sampling
The referral is available digitally at the sampling unit after you activate it, follow the instructions you receive via email. Here you can read our guidelines before taking samples.
Do I need to see a doctor before having the NIPT test?
No, you don't need to book an appointment for a doctor's visit. When you order the NIPT test through us, a digital referral is automatically created and you can take the blood sample directly at a Karolinska-affiliated clinic. Completely hassle-free.
Can I do NIPT even if I haven't done KUB?
Yes. You can have NIPT regardless of whether you have had a combined ultrasound and biochemical test (CUS) or not. NIPT is a stand-alone test that does not require prior screening.
Can I do NIPT if I am expecting twins?
Yes, NIPT can be performed in multiple pregnancies, but the reliability is slightly lower in twin pregnancies and it may affect the ability to determine gender and certain chromosomal abnormalities. Karolinska analyzes twin pregnancies – please contact us if you would like to discuss this in more detail.
Can I do NIPT even if I got pregnant through IVF?
Yes, NIPT is also available for IVF pregnancies and is not affected by how the pregnancy occurred.
Is NIPT safe for the fetus?
Yes. Since NIPT only involves a blood sample from the pregnant woman, it is completely risk-free for the fetus. It is a non-invasive method and poses no threat to the pregnancy.
What happens if NIPT shows an abnormality?
If the NIPT analysis indicates a chromosomal abnormality, you will always be contacted by a doctor by telephone. You will then be offered continued advice and the possibility of follow-up confirmatory tests, such as amniocentesis or placental sampling.
Can I choose not to find out the sex of the fetus?
Yes. Since many people do not want to find out the gender, the test results regarding the chromosome pairs are primarily secret in the test results service. Of course, it is clear whether the test result is normal or abnormal and if you want, you can click on the test result to see the gender.
What is the difference between NIPT and the KUB test?
KUB combines blood tests and ultrasound to provide an estimate of the likelihood of chromosomal abnormalities. NIPT is a more precise test that analyzes fetal DNA directly from the mother's blood, and has higher accuracy, especially for Down syndrome.
Do I need to prepare before taking the test?
No, you do not need to fast or make any special preparations for the blood test. It can be taken at any time of the day.
What information will I not get from an NIPT test?
NIPT cannot detect all types of genetic diseases or structural malformations. It does not provide information about, for example, heart defects, spina bifida or syndromes that are not due to chromosome number.
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Read moreNo, blood tests do not replace contact with the healthcare system, which together with medical history, clinical examinations and possible blood tests can make a diagnosis.
Read moreYou submit your test at any reception that is available all over Sweden, see the "receptions" tab in the menu. The sampling is carried out by trained healthcare personnel, so you can feel confident in your choice of sampling unit and in your meeting with the staff who work for them and who perform the sampling when you leave your blood sample intravenously. Analysis of your blood samples takes place at Sweden's leading accredited laboratory Synlab, Unilabs or Karolinska University Laboratory.
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Read moreIt usually takes 1-5 working days to get your test results, these are sent to you continuously as the analysis is done. The doctors comment will appear in the final report when all test results have been received, provided it is included in your analysis.
Read moreAdd the health check or tests you want to carry out to the shopping cart, go to checkout and choose the payment option that suits you. After completed payment, we will send an email with an activation code for your referral. You use the activation code in the sample response service "My journal" to activate the referral and select the reception where you want to leave your samples.
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