Prequel® Prenatal Test by YK Medica

Noninvasive prenatal testing (NIPT) is a screening test for certain genetic abnormalities in the early stages of pregnancy. NIPT is designed for both single and twin pregnancies. It can be performed as early as the tenth week of pregnancy by taking a venous blood sample from the mother.

What methods does the Prequel® test use?

The approach to extensive genetic testing with rare aneuploidies and microdeletions yielded a high sensitivity of 96.4% and a speci city of 99.8% for rare aneuploidies and a sensitivity of 74.1% and a speci city of 99.8% for microdeletions greater than 7 MB.

The Illumina Veriseq NIPT Solution uses extended genome sequencing to provide a comprehensive view of the genetic material. This provides a wealth of information across the entire genome, effectively removing interference introduced by molecular techniques such as PCR. Targeted sequencing and plate-based methods tend to have longer laboratory protocols and employ more PCR cycles than genomic methods, introducing potential sources of error and increasing interference. This lack of coverage can be further increased when working with more challenging samples such as those with lower percentages of fetal fractions. In these cases, the information does not differ enough for the test to provide a reliable result on one side or the other (aneuploidy or disomy).

What is NIPT?

Noninvasive prenatal testing (NIPT) is a screening test to detect certain genetic abnormalities in the early stages of pregnancy. NIPT is designed for singleton and twin pregnancies and can be performed as early as the tenth week of pregnancy by simply taking a venous blood sample from the mother.

What can NIPT detect?

NIPT isolates fragments of DNA (cell-free DNA) in the mother’s blood to provide accurate information about the likelihood of a chromosomal abnormality that could affect the baby’s health. This test can identify the most common chromosomal abnormalities, such as:

• Trisomy 21 (Down syndrome)
• Trisomy 18 (Edwards syndrome)
• Trisomy 13 (Patau syndrome)
• The baby’s gender
• Sex chromosome aneuploidies
• Advanced NIPT tests, such as the Prequel® prenatal test, also offer the option to analyze all other chromosomes and detect a large number of microdeletions and duplications.

Who is NIPT for?

The test is intended for all pregnant women, regardless of the type of pregnancy. It is indicated for single, twin (both monochorionic and dichorionic), including those obtained through medically assisted procreation techniques (PMA), both homologous and heterologous (male, female or double heterologous). The test is useful for monitoring the health and development of the fetus, offering an accurate assessment in all these situations.

In the past, NIPT was offered only to pregnant women with a high risk of chromosomal abnormalities, such as women over age 35 or with a family history of genetic abnormalities. However, professional societies such as The American College of Obstetricians and Gynecologists (ACOG) and The American College of Medical Genetics and Genomics (ACMG)** now recommend NIPT for **all** pregnant women, regardless of age or risk, because it is the most accurate screening test for trisomy 21, trisomy 18, and trisomy 13.
The International Society for Prenatal Diagnosis (ISPD) emphasizes the importance of offering NIPT to every pregnant woman as a primary screening test.

Is NIPT safe?

The Prequel® test is a non-invasive prenatal test (NIPT) that analyzes fetal DNA present in the mother’s blood. Since it requires only a venous blood sample from the mother, it poses no risk to the safety of the baby and is as simple as any other laboratory test.

How accurate is NIPT?

Thanks to cell-free fetal DNA (cffDNA) technology, the Prequel® prenatal test can identify pregnancies with Down syndrome with greater than 99.9% accuracy. In contrast, statistical screening tests for Down syndrome (such as the double marker test or the triple marker test) may miss up to 15% of Down syndrome cases.

Ιn which week of pregnancy can you take the Prequel® prenatal test?

The test can be performed starting from the 10th week of pregnancy. At this gestational age, fetal DNA is sufficiently present in the maternal blood, allowing for accurate analysis without risks for the mother or the fetus.

How is the test performed?

The test is performed through a simple maternal blood sample, which is then analyzed to detect circulating fetal DNA. This process does not involve any risk for the mother or the fetus, being non-invasive and completely safe.

The Prequel NIPT test is an ideal choice for pregnancy monitoring for several reasons:

• Reading depth: The Prequel NIPT test guarantees a high reading depth, which allows accurate detection even in the case of low fetal fractions.
• % of repeat sampling: The Prequel NIPT test has an extremely low percentage of need for repetition (redrawing), thanks to the reliability of its results.
• Minimum fetal fraction: The test is able to detect minimum fetal fractions starting from the 10th week of pregnancy, offering precise diagnostics even in pregnancies with low fetal fraction.
• Advanced technology: Prequel NIPT uses the most advanced technologies for fetal DNA analysis, which guarantee high quality and precise results.
• Sample stability: Thanks to the specially designed tube (Cell3™ Preserver), the maternal blood sample maintains optimal stability during transport and analysis for at least 10 days, avoiding contamination or errors.
• Certified process: The Prequel NIPT test follows a certified process that complies with international quality standards, ensuring the reliability of the results at every stage, from sample collection to reporting.
• TAT (Turnaround Time): The response time (TAT) is rapid, with results available in a short time, providing peace of mind to the pregnant woman in good time.
• Non-invasive screening test: Prequel NIPT is a non-invasive screening test, which does not pose any risk to the mother or the fetus, as it is based on a simple blood draw.

The Prequel® test can be performed as early as the 10th week of pregnancy (from week 10+0).

STEP 1

Before performing the Prequel® test, your gynecologist must perform an ultrasound scan to determine your gestational week. It must be determined whether you are having a singleton or twin pregnancy.

You should also discuss with your doctor which Prequel® test option is best for you, and your doctor along with YK Medica will inform you about the entire Prequel® test process.

STEP 2

After completing the test request form, your gynecologist or alternatively (after contacting YK Medica) a certified blood collector will take a venous blood sample from the mother. He/She will prepare the special sample preservation and transport kit and place it in the special DHL nylon bag, in which he/she will place the prepaid airway bill (included in the kit) on the outside. You will be contacted by secretarial support, on behalf of YK Medica, to confirm details, payment instructions and route the kit to be received by DHL. YK Medica will send the sample to a partner laboratory of Prequel in Italy (not limited to).

STEP 3

After 3-5 working days from the moment the sample is received by the collaborating laboratory, YK Medica will receive the results and communicate them to your gynecologist.

If you have any questions do not hesitate to contact us