Prenatal Test DNA Karyo Plus and RHD

What is the test about?

Prenatal testDNA Karyo Plus is a non-invasive prenatal test with high sensitivity. It provides extensive information about the baby’s health by analyzing a large number of abnormalities. It is the only NIPT in Poland with such a wide scope of analysis.

The test requires only a small blood sample from the mother. This sample contains free fetal DNA, which is analyzed in the laboratory using precise methods. This makes Prenatal testDNA Karyo Plus both safe and effective.

Additional RHD analysis determines the fetal RHD status, which is important for assessing the risk of Rh incompatibility, when the mother has Rh-negative blood and the father Rh-positive.

When should the test be performed?

Prenatal testDNA Karyo Plus and RHD is designed for mothers with Rh-negative blood. It can be performed after the 10th week of pregnancy. It is particularly recommended:

• For pregnancies after the age of 35, due to an increased risk of genetic conditions in the baby. The test’s wide scope and high accuracy can provide peace of mind with normal results;
• If the PAPP-A test or combined tests indicate an increased risk of trisomies in first-trimester prenatal screenings. A normal result from this highly sensitive test can help avoid amniocentesis;
• If the expectant mother has concerns about the baby’s health.

The test is also recommended if there is a history of genetic disorders in previous pregnancies or the family, or if invasive testing is contraindicated.

It can be performed in single pregnancies as well as monochorionic twin pregnancies.

What does Prenatal testDNA Karyo Plus and RHD analyze?

Karyo Plus analyzes all 23 chromosomes, including very small changes (microdeletions). Importantly, the test’s accuracy has been confirmed not only for common trisomies but also for rare abnormalities. The additional RHD analysis determines the fetal RHD status.

Prenatal testDNA Karyo Plus and RHD analyzes:

• Common trisomies: Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), Trisomy 13 (Patau syndrome).
• Rare trisomies: 9, 16, 22.
• Other autosomal chromosome trisomies and monosomies.
• Sex chromosome abnormalities (Turner syndrome (X0), Klinefelter syndrome, Triple X syndrome, Jacobs syndrome).
• Deletions and duplications ≥ 7 Mb.
• 9 microdeletions > 3 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, Wolf-Hirschhorn syndrome (4p16.3 deletion), Jacobsen syndrome (11q23 deletion), Langer-Giedion syndrome (8q24.11-q24.13 deletion), Smith-Magenis syndrome (17p11.2 deletion)).
• Fetal RHD status.
• Fetal sex upon request.

Why should you choose this test?

Prenatal testDNA Karyo Plus provides valuable insights about the baby’s health even before birth. A normal result can help reduce anxiety and avoid invasive procedures such as amniocentesis. Determining the fetal RHD status assists in assessing the risk of Rh incompatibility in mothers with Rh-negative blood.

• COMPREHENSIVE – analyzes all 23 chromosome pairs, including microdeletions.
• ACCURATE – high sensitivity confirmed in extensive clinical validation involving over 70,000 pregnancies, including rare abnormalities.
• RELIABLE – performed by an experienced laboratory with over 300,000 NIPT tests conducted.
• SAFE AND SIMPLE – requires only a small blood sample, which can be taken at home with online results.
• ACCESSIBLE – available at one of 300 collection points or conveniently at home.

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

What makes it unique among other NIPTs?

• Wide range of analysis: It not only detects common trisomies (e.g., Trisomy 21, Down syndrome) but also very small chromosome changes starting from 3 Mb, which other non-invasive tests might not detect (e.g., DiGeorge syndrome). Additionally, it includes RHD analysis.
• Proven accuracy: Its high sensitivity has been validated in over 70,000 pregnancies, particularly for rare abnormalities, through a single-center study, ensuring reliable results.
• No need to stop heparin: Unlike some other prenatal tests, Prenatal testDNA does not require discontinuing this medication before sample collection.

What is included in the test price?

• Analysis for genetic abnormalities and sex determination (upon request) as per the selected package, with results available online via a secure Patient Portal.
• Sample collection at one of 300 locations or at home (nurse visit) across Poland.
• Consultation with a clinical geneticist in case of detected abnormalities (positive result). The doctor explains the results and recommends further steps.
• “How to interpret the result” guidelines created with a clinical geneticist to make understanding the results easier.

Preparation for the Test

• No need to fast, you can eat a meal before the test.
• Heparin use is allowed; there is no need to stop the medication or adjust its dosage.
• We recommend staying hydrated by drinking fluids the day before and on the day of the sample collection.
• Check the list of contraindications in the final section. If you have any doubts, feel free to contact us.

Step-by-Step Test Procedure

1. After purchasing the test, our medical consultant will contact you to schedule an appointment at a convenient location near you (choose from one of 300 centers across Poland or opt for a home visit by a nurse).
2. On the scheduled date, visit the chosen center or await the nurse’s home visit.
3. During the visit, you will sign the test order form. A sample of the documents is sent via email beforehand for review.
4. A blood sample is collected from the mother’s antecubital vein, similar to a standard blood test (e.g., CBC). The sample collection is quick, and the entire visit—whether at the center or home—typically lasts no more than 20 minutes.
5. The sample, along with the test order form, is sent to the Eurofins Genoma laboratory in Italy, where the analysis is conducted. Sample transport is fast and takes only 1-2 business days, comparable to domestic sample delivery in Poland. The transport is secure and carried out using a specialized DHL Medical Express shipment at room temperature (the sample does not require refrigeration).
6. The test result is available for download online in a secure Patient Portal. The document is the original and is electronically signed.
7. The waiting time for results is 4-8 days for the Karyo Plus test and up to 14 days for the RHD test. These are business days counted from the time the sample is delivered to the laboratory.
8. If the Karyo Plus test result is abnormal, you can schedule a consultation with a clinical geneticist, included in the test price. During the phone consultation, the doctor will explain the result and recommend further steps.

The Prenatal testDNA Karyo Plus and RHD test 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 since the cessation of development and the sample collection.
• Tumor DNA present in the mother’s blood.
• Dichorionic twin pregnancy.
• The pregnant woman has an Rh-positive blood group.

In certain situations, it is recommended to wait a specified period before collecting the sample:

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

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