Prenatal testDNA Karyo Plus

What does the test involve?

Prenatal testDNA Karyo Plus is a non-invasive prenatal test with high sensitivity. It provides a wealth of information about the baby's health thanks to the large number of abnormalities it examines. It is the only NIPT in Poland with such a broad scope of analysis. For the test, all that is needed is a small sample of the mother's blood. It contains the fetal free DNA, which is analyzed in the lab using precise methods. This is why Prenatal testDNA Karyo Plus is both safe and effective.

When should the test be performed?

Prenatal testDNA Karyo Plus can be done after the 10th week of pregnancy. It can be performed by almost any mother who wants to check the health of her unborn child. It is particularly recommended for:

•  Pregnancies after the age of 35 due to the increased risk of genetic disorders in the child. Thanks to the wide scope and high accuracy of the test, a normal result can bring peace of mind;
• when PAPP-A and combined test indicate a high risk of trisomy in first-trimester prenatal screening. With the test’s high sensitivity, a normal result can help avoid amniocentesis.

The test is also recommended if genetic disorders occurred in a previous pregnancy or in the family, or if there are contraindications for invasive testing.

The test can be done in single pregnancies and monochorionic twin pregnancies.

What does Prenatal testDNA Karyo Plus test for?

Karyo Plus is the most comprehensive package of Prenatal testDNA. It tests all 23 chromosomes, including very small changes (microdeletions). Importantly, the effectiveness of the test has been confirmed not only for common trisomies but also for rare abnormalities.

Prenatal testDNA Karyo Plus tests for:

• Common trisomies: trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome).
• Rare trisomies: 9, 16, 22.
• Trisomies and monosomies of other autosomal chromosomes.
• XY chromosome aneuploidies (Turner syndrome (X0), Klinefelter syndrome, Trisomy X, Jacobs syndrome).
• Deletions and duplications ≥ 7 Mb, 9 microdeletions 3-7 Mb (DiGeorge syndrome (22q11.2 deletion), Cri-du-chat syndrome (5p15.3 deletion), Prader-Willi syndrome (15q11.2 deletion), Angelman syndrome (15q11.2 deletion), 1p36 deletion syndrome (1p36 deletion), Wolf-Hirschhorn syndrome (4p16.3 deletion), Jacobsen syndrome (11q23), Langer-Giedion syndrome (8q24.11-q24.13 deletion), Smith-Magenis syndrome (17p11.2 deletion).
• Gender upon request.

Why is it worth doing?

Prenatal testDNA Karyo Plus provides many important insights into the baby’s health before birth. A normal result can help restore peace of mind and avoid invasive tests like amniocentesis.

• COMPREHENSIVE – it tests all 23 pairs of chromosomes, including microdeletions.
• EFFECTIVE – its high sensitivity has been confirmed in wide clinical validation on over 70,000 pregnancies, including rare abnormalities.
• RELIABLE – the lab has extensive experience in non-invasive prenatal tests and has conducted over 300,000 NIPTs.
• SAFE AND SIMPLE – it only requires a small sample of the mother's blood, which can also be taken at home with results available online.
• CLOSE TO YOU – you can have it done in one of 300 collection points or conveniently at home.

Prenatal testDNA is conducted using CE-IVD certified software, equipment, and reagents in an accredited laboratory (UNI EN ISO 15189:2013, certificate no. 0018M).

How does it stand out from other NIPTs?

• Broad scope of analysis. Prenatal testDNA Karyo Plus tests not only for the most common trisomies (e.g., trisomy 21, Down syndrome). It also detects very small changes in chromosomes, from 3 Mb, that may not be identified by other non-invasive prenatal tests (e.g., DiGeorge syndrome). Such changes, although difficult to see under a microscope, can have a significant impact on the child’s health.
• Confirmed effectiveness. The high effectiveness of Prenatal testDNA has been confirmed not only for common trisomies but also for rare abnormalities, thanks to extensive validation on over 70,000 pregnancies. The validation of Prenatal testDNA stands out because it was conducted in a single center, which allows for better assessment of the test’s effectiveness than when data comes from multiple sources. Moreover, it was conducted under the same conditions in which our patients’ samples are analyzed daily.
• No need to stop taking heparin before the test. Unlike some other prenatal tests, Prenatal testDNA does not require discontinuation of this medication before sample collection. This means you don’t have to worry about adjusting the dosage.

What is included in the test price?

The test price includes:

• Analysis for genetic abnormalities and gender (upon request) according to the selected package and results online in a secure Patient Panel.
• Sample collection at one of 300 collection points or at home (with a nurse visit) throughout Poland.
• Consultation with a clinical geneticist if the test detects abnormalities (positive result). The doctor explains the significance of the result and recommends further actions.
• Guidelines on "How to interpret the result" developed in collaboration with a clinical geneticist, making it easier to understand the result on your own.

The time to complete the examination from the date of purchase is 3 weeks.

Preparation for the test

• No need to fast, you can eat a meal.
• You can continue taking heparin, there is no need to discontinue the medication or adjust the dose.
• We recommend drinking fluids the day before and on the day of sample collection to ensure proper hydration.
• Familiarize yourself with the list of contraindications in the last tab. If in doubt, contact us.

Step-by-step process

1. After purchasing the test, our medical consultant will contact you to schedule an appointment at a convenient location near you (you can choose from 300 locations across Poland or opt for home sample collection with a nurse).
2. On the scheduled date, come to the selected facility or wait for the nurse's home visit.
3. During the visit, you will sign the test order form. We will send you sample documents via email for review in advance.
4. A blood sample is taken from the mother's antecubital vein, similar to a complete blood count. Sample collection is quick, and the entire visit (either at the facility or at home) usually takes no more than 20 minutes.
5. The sample and the test order form are sent to the Eurofins Genoma laboratory in Italy, where the analysis is performed. Sample transport is fast and takes only 1-2 business days, similar to sending a sample to a laboratory in Poland. Transport is safe and carried out via a special DHL Medical Express package at room temperature (samples are not refrigerated).
6. The test result is available online in a secure Patient Panel. It is the original document, signed electronically.
7. The waiting time for the result is up to 12 business days from the time the sample is delivered to the laboratory. This is the maximum time, and results are often available sooner.
8. If an abnormal result is obtained, you can schedule a consultation with a clinical geneticist at no additional cost. During the phone consultation, the doctor explains the significance of the result and recommends further actions.

Prenatal testDNA Karyo Plus is non-invasive and can be performed on almost any pregnant woman. However, there are contraindications to the test.

The test cannot be performed in the following cases:

• Pregnancy with 3 or more fetuses.
• Pregnancy before the 10th week.
• Vanishing twin syndrome if fetal development stopped after the 8th week of pregnancy or if less than 8 weeks have passed between cessation and sample collection.
• Presence of tumor DNA in the mother's blood.
• Dichorionic twin pregnancy.

In some cases, it is recommended to wait a certain period before sample collection:

• It is recommended to wait 4 weeks after the last immunotherapy.
• It is recommended to wait 4 weeks after the last plasma albumin therapy.
• It is recommended to wait 12 months after a blood transfusion.

Organ transplantation and abnormal maternal karyotype (inversions, translocations, deletions, duplications, mosaicism) require consultation before the test. The test is not recommended after stem cell therapy.