The most complete non-invasive prenatal test
Test VERAgene only
Determines the risk of fetal aneuploidy, microdeletions and spotting.Mutations.


VERAgene

General Information

VERAgene The test is a new generation of non-invasive prenatal test (NIPT) that determines through screening 13th (Pataus Syndrome), 18th (Edwards Syndrome) and 21st (Down Syndrome) Risk of chromosome trisomies, X, Y chromosome aneuploidies, microdeletions (DiGeorge, 1p36, Smith-Magenis, Wolf Hirschhorn) and 100 monogenic diseases of the fetus.

VERAgene Test targeting Studies 2,000 mutations to detect 100 monogenic diseases. Along with screening for monogenic diseases, the possibility of simultaneous detection of aneuploidy and microdeletions gives us a complex picture of pregnancy, Using one test.

VERAgeneGenetic disorders identified by - are often serious and have a significant impact on quality of life. These genetic diseases are manifested in the form of congenital malformations, developmental delays, hearing impairment, blindness, metabolic disorders, etc.

VERAgene The cumulative risk of fetal damage by one of the genetic disorders detected by the test is 1 in every 350 pregnant women and may increase in some ethnic populations where certain diseases have a higher prevalence.

VERAgene The test can accurately identify the risk of developing these disorders and help parents make informed decisions about possible treatment and clinical management in a timely manner.

The circulating free DNA of the fetus, the so-called fetal fraction, makes up about 3-13% of the total free DNA and is mainly generated from the placenta, which disappears from the mother's blood within a few hours of the fetus's birth. The VERAgene test uses the free DNA (fetal fraction) of the fetus isolated from the mother's blood and a DNA sample taken from the biological father to determine the potential for certain genetic mutations using the latest patented technology and bioinformatics.

VERAgene The test can be performed during single, twin and in vitro fertilization (IVF) pregnancies. From at least the 10th week of gestation. In the presence of extinct twin syndrome, testing for twins during pregnancy is possible after the 10th week of gestation and 4 weeks after the disappearance of one of the embryos. Aneuploidy of X and Y chromosomes is not detected during twin pregnancy and fading twin syndrome.

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

∨ The test is done

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 years and older - 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 previous pregnancy with confirmed chromosomal disease of the fetus - 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 age risk, which is correspondingly higher for Down syndrome;
  • Presence of confirmed genetic pathology in one of the parents, which has not been identified as a disability or disease;
  • Presence of a known family genetic disease or genetic pathology; 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
  • Retardation of fetal intrauterine development, etc.

Family history of congenital anomalies.

In-vitro fertilization.

Patients with contraindications to invasive methods of prenatal diagnosis.

How to prepare for the test?

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

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

VERAgene Needed for the test only Venous blood of a pregnant woman და Bucal (cheek mucosa) smear of biological father. For pregnant women before taking the test No special training required (fasting, etc.). As for the father - 30 minutes before the smear is recommended: Do not have food intake, do not smoke, and do not consume chewing gum.

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

The sample is sent and tested at the NIPD Genetics Laboratory, 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, we offer "Sinevo" laboratory Consult a geneticist.

Limitations and inaccuracies:

If a pregnant woman has undergone blood transfusions, organ transplants, 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

VERAgene The test can assess the following chromosomal abnormalities:

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

Down, Edwards and Patau syndrome are genetic conditions caused by the presence of an extra chromosome (trisomy). Additional copies of chromosome 21 are responsible for Down syndrome, and additional copies of chromosomes 18 and 13 are responsible for Edwards and Patau syndrome, respectively.

For Down syndrome Decreased level of intellectual development and congenital defects are characteristic. The incidence of the syndrome is 1 in 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.

The congenital defects here are so severe that children with the disease usually die in the first year of life.

Determination of sex (presence of Y-chromosome)

Aneuploidy X, Y, which includes: Turner Syndrome - Monosomy X0; Triple X Syndrome - XXX; Klinefelter Syndrome - XXY; Jacobs Syndrome - XYY.

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.

Microdelation, which includes: Di George (22q11.2); 1p36 Delegation; Smith-Magen (17p11.2); Wolf-Hirschorn (4p16.3) syndromes.

Microdeletion 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 symptoms depends on the size and location of the microdeletion. The most common microdeletion syndrome is DiGeorge / DiGeorge Syndrome / Syndrome, which occurs in about every 1000 pregnancies.

100 monogenic diseases

VERAgene screens more than 2 mutations responsible for the development of 000 monogenic diseases:

  • Cystic fibrosis
  • Sickle cell anemia
  • Beta thalassemia
  • Tay-Sachs disease
  • Gaucher disease
  • Is phenylketonuria
  • Autosomal recessive polycystic kidney disease
  • Canavan disease
  • Fanconi anemia type C
  • Asher syndrome type 1F
  • Myotubular myopathy
  • Alstrum Syndrome
  • Abetalipoproteinemia
  • Bardet-Biedl syndrome
  • Alport syndrome associated with the X chromosome
  • Maple Syrup Type 1B Disease
  • Factor XI Deficiency

A complete list of monogenic diseases detected by VERAgene can be found here: www.nipd.com/veragene100

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 VERAgene is not a diagnostic test, a positive result should be confirmed by a prenatal diagnostic test of 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 aneuploids is 99.9%.

"Sinevo" recommends that you get detailed information about these syndromes from a specialist doctor. 

VERAgene test does not reveal:

  • Balanced chromosomal translocations and other structural chromosomal abnormalities in addition to the above;
  • Polyploidy;
  • Fetal and / or placental chromosomal mosaicism;
  • DNA methylation defects.

 

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