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Extended chromosomal abnormalities (trisomy 13,18,21; sex determination; aneuploidy X,Y; 7 microdeletions)

Also known as: Noninvasive prenatal test
SKU: GEN-VRC004MG

1,210.00

Study material: Venous blood
Response time (working day): 7-14
The test is done on an empty stomach: no
Home call service: Yes
Country: EU

General Information

VERACITYIs 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 was developed by Medicover Genetics, an internationally accredited laboratory.

During pregnancy, the fetus (fetal) Free (extracellular) DNA It passes from the placenta into the mother's bloodstream and circulates with the mother's DNA. No one can measure it 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 9th week.

 

 

How to prepare for the test?

VerasitiThe test can be performed From the 9th week of pregnancy. necessary The pregnancy period must be confirmed by ultrasound.

Verasiti 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).

VerasitiNeeded 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.

Sampling for research will be done:

  • In the regions:Tuesday and/or Wednesday
  • In Tbilisi: on Wednesday and/or Thursday (in the first half of the day)

Samples are sent on Thursdays, in the afternoon! For this, the sample must be at the central laboratory by Thursday 12:00.

The taken sample is sent and the research is conducted in the laboratory At MEDICOVER Genetics,which is an internationally accredited laboratory.

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.

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 SyndromeCharacterized by the presence of a single X chromosome.

Syndrome XXXCharacterized by the presence of three X chromosomes.

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

Jacobs SyndromeCharacterized 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.

 

 

When should we take the test?

Indications for performing Verasit:

  • Pregnant age 35 yearsLee 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 fetus 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 anomaliesDevelopmentFamily history;
  • In-vitro fertilization;
  • Invasive methods of prenatal diagnostics MimarTPatients with contraindications.

Possible interpretation of the results

Verasiti 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 syndromeDecreased 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);7 microdelections, which includes: DiGeorge (22q11.2), 1p36 deletion, Smith-Magen (17p11.2), Wolf-Hirschhorn (4p16.3), Praderville, Angelman, and Cri-du-Cha syndromes.

What is a microdeletion?

Microdelation Is a genetic disorder caused by the loss of a specific part of a chromosome.

Microdeletion is manifested in the form of various congenital anomalies and limitations of mental development.

The severity of the symptoms depends On the size and location of the microdeletion.

The most common Microdeletion syndrome Is Di George / Di George Syndrome -A syndrome that occurs in about every 1000 pregnancies.

Reference values

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) resultCan 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%.

 

The Verasiti test does not detect:

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

 

 

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This medical information is not intended to be a universal treatment guide for all patients. The treatment process, including the type, volume, and frequency of diagnostic tests and therapeutic procedures, is determined by the physician individually — based on an assessment of the patient's condition and relevant medical indications. The decision is made in consultation with the patient. Before purchasing a test, please read the instructions for its preparation.
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