Veracity (trisomy 13,18,21; sex determination; aneuploidy X, Y)

VERACITY Is a new generation of non-invasive prenatal test (NIPT), which determines the chromosomal pathologies of the fetus - aneuploidy and microdeletions during pregnancy.

The test uses the latest patented technology based on modern advances in science and genetics in the field of molecular diagnostics. It is designed by the NIPD Genetics team in such a way that it is completely nullified by the other NIPT (Non-Invasive Prenatal Test) Disadvantages of tests.

During pregnancy, the fetus (fetal) Free (extracellular) DNA It travels from the placenta into the mother's bloodstream and circulates along with the mother's DNA. VERACITY measures accurately Fetal (extracellular) free DNA - The so-called Fetal fraction In the mother's blood and determines the presence of fetal aneuploidy and microdeletions (chromosomal abnormalities).

You only need to take the test Blood of biological mother. Free DNA is isolated and analyzed for aneuploidy and microdeletions using the New Generation Sequencing (NGS) methodology. The test is validated in both singleton and twin pregnant women. Can also be done in vitro fertilization. The test can be performed during pregnancy From the 10th week.

Optionally, VERACITY offers a variety of testing options: (Prices given are up to 45% off) 

∨ - The test is done.

*Sampling takes place after 4 weeks; *** Aneuploidy  X, Y, Not made twins and extinct twins during pregnancy.

Non-invasive screening avoids the risk of miscarriage and intrauterine infection, which may be associated with invasive prenatal testing (amniocentesis or chorionic biopsy). also, Timely detection of fetal aneuploidies allows for early intervention and management.

When should we take the test?

• Pregnant age 35 yearsეLee and more - With age, the risk of giving birth to a child with Down syndrome increases significantly. The older a pregnant woman is, the greater the risk;
• Presence of a previous pregnancy with a confirmed chromosomal fetusი DiseasesT - The risk increases by 35-1% in women under 2 years of age. In women over the age of 35, the risk of further pregnancy depends on the risk of age, which is correspondingly higher for Down syndrome;
• Existence of confirmed genetic pathology in one of the parents, which has not been identified as a disability or disease;
• Of known familial genetic disease or genetic pathology Existence, which can be confirmed by biochemical or DNA tests. The risk of developing monogenic diseases increases by 25-50%;
• Abnormalities detected during pregnancy:
  - Abnormal ultrasound data of fetal morphology;
  - Increased risk of developing chromosomal abnormalities after double and triple biochemical screening;
  - Delayed intrauterine development of the fetus, etc .;
• Congenital anomalies Development Family history;
• In-vitro fertilization;
• Invasive methods of prenatal diagnostics Mimarთ Patients with contraindications.

How to prepare for the test?

VERACITY The test can be performed From the 10th week of pregnancy. Required from a specialist doctor Information about detailed ultrasound examination, which will assess the gestational age (weeks), which is especially important in the early stages of pregnancy.

VERACITY Before taking the test sample, it is necessary for the patient to get acquainted with and fill in the relevant documentation, which includes: 1. Sample information ( SIF); 2. Informed consent of the patient; 3. Information on personal data processing (Including information on non-invasive prenatal testing and its limitations).

VERACITY Needed for the test, only Venous blood of a pregnant woman. No special training is required before passing the test (fasting, etc.);

Due to the special features of the sampling system (so-called "kits"), the analysis will be performed only in "Synevo" laboratory centers or specialized clinics, where the relevant consultation with "Synevo" for medical staff is carried out in advance.

The taken sample is sent and the research is conducted in the laboratory In NIPD Genetics, which is accredited by the College of American Pathologists (CAP).

Test answers are available from sampling 14 working days. The answer will be sent to the doctor and patient's email. By mail. It is also possible to get on-site laboratory center.

If necessary, Synevo Laboratory offers a consultation with a geneticist.  

Limitations and inaccuracies:

If a pregnant woman is currently having a blood transfusion, organ transplant, or stem cell therapy, there is a possibility of obtaining a false result due to the presence of exogenous DNA.

Possible interpretation of the results

VERACITY The test can assess the following chromosomal abnormalities:

• Trisomy 13 (Pataw), 18 (Edwards), 21 (Down)

What is Downey, Edwards And Patau Syndrome?

Down, Edwards and Patau syndrome Are genetic conditions caused by the presence of an extra chromosome (trisomy). Chromosome 21 Additional copy is responsible Down Syndrome, but 18th და On the 13th chromosome  Additional copies, respectively, On Edwards and Patau syndrome.

For Down syndrome Decreased level of intellectual development and congenital defects are characteristic. The incidence of the syndrome is 1 in every 700 pregnancies and is more common in women over the age of 35.

Edwards and Patau syndromes It is more rare and occurs in 1: 3,000 pregnant women and 1: 10,000 pregnant women. Here, congenital defects are so severe that children with the disease usually die in the first year of life.

"Synevo" recommends that you get detailed information about these syndromes (fetal trisomy) from a specialist doctor.    

• Determining sex (Presence of Y-chromosome);

• Aneuploidy X, Y; which include: Turner syndrome (monosomy X), triple X syndrome (XXX); Klinefelter Syndrome (XXY); Jacobs Syndrome (XYY);

What are the sex chromosomes - X, Y aneuploidy?

Sex chromosome aneuploidy is a genetic disorder caused by the presence or absence of a specific sex chromosome. The pair on chromosome 23 determines the sex of an individual. Women have two X chromosomes and men have one X chromosome and one Y chromosome.

There are four major sex chromosome aneuploids:

Turner Syndrome Characterized by the presence of a single X chromosome.

Syndrome XXX Characterized by the presence of three X chromosomes.

Klinefelter syndrome Characterized by the presence of two X chromosomes and one Y chromosome.

Jacobs Syndrome Characterized by the presence of one X chromosome and two Y chromosomes.

"Synevo" recommends for the given syndromes (Sex chromosomes- X, Y)  Get detailed information from a specialist doctor.    

The accuracy rate for detecting these anomalies is close but not equal to 100%.

"High risk" (positive) result For a given genetic condition, it indicates that there is a high probability (> 99.9%) that the fetus will be diagnosed with this genetic disease.

Because VERACITY is not a diagnostic test, a positive result must be confirmed Prenatal diagnostic test for amniotic fluid or chorionic villus sampling (amniocentesis; chorion biopsy)

Although the rate of detection of genetic disorders by the test is very high, "Low risk" (negative) result Can not completely rule out the possibility of developing genetic disorders in the fetus.

The accuracy of the test for the detection of sex chromosome anoploids is 99.9%.

VERACITY test does not reveal:

• Balanced chromosomal translocations and other structural chromosomal abnormalities (other than those listed above);
• Polyploidy;
• Fetal and / or placental chromosomal mosaicism;
• DNA methylation defects.