PrenaTest (PrenatalSafe 5 - trisomy 21/13/18 and gonosome aneuploidy: X, Y )

Please note that independent interpretation of results is not permitted; the information provided is for reference only.
This test is performed only after consultation with a physician.

PrenaTest (PrenatalSafe 5) is an extended non-invasive prenatal screening test designed to assess the risk of the most common fetal chromosomal abnormalities: trisomies 21, 13, and 18, as well as sex chromosome aneuploidies (X and Y). The analysis is based on the evaluation of cell-free fetal DNA (cfDNA) present in maternal blood and provides highly accurate information without risk to the mother or fetus.

Trisomy 21 (Down syndrome) results from the presence of an extra copy of chromosome 21. It is associated with intellectual disability, characteristic facial features, and an increased risk of congenital heart defects and endocrine disorders. The primary cause is meiotic error, most often related to advanced maternal age.

Trisomy 13 (Patau syndrome) is caused by an additional copy of chromosome 13 and is characterized by severe congenital malformations involving the central nervous system, heart, and facial structures. In most cases, it is associated with high perinatal mortality.

Trisomy 18 (Edwards syndrome) occurs due to an extra copy of chromosome 18 and presents with multiple internal organ malformations, severe growth restriction, and low neonatal survival rates.

Sex chromosome aneuploidies (X and Y) are numerical abnormalities of the sex chromosomes. These include Turner syndrome (45,X), Klinefelter syndrome (47,XXY), trisomy X (47,XXX), and XYY syndrome. Clinical manifestations may include disorders of sexual development, reproductive dysfunction, hormonal imbalance, and, in some cases, cognitive and psychoemotional features, with variable severity.

PrenaTest 5 enables assessment of the risk of these chromosomal abnormalities from as early as the 10th week of pregnancy, supporting early and safe screening and informed decision-making regarding further pregnancy management.

Indications

• Pregnant women over 35 years of age
• Increased risk based on biochemical or ultrasound screening results
• History of pregnancies with chromosomal abnormalities
• Family history of genetic disorders
• Desire for an extended and comprehensive assessment of fetal chromosomal status

Procedure

• Collection of venous blood from the pregnant woman (usually from the cubital vein).
• Isolation of cell-free fetal DNA from maternal plasma.
• Molecular genetic analysis to assess the risk of trisomies 21, 13, 18, and sex chromosome aneuploidies.
• Interpretation of results by a genetic specialist, followed by medical counseling.
   

This service is available at the following branches: Chișinău, Albișoara Street 64/2, Testemițanu Street 19/1, and in Bălți, Decebal Street 126.
​​​​​​​

Sources:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3991414/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395059/
https://my.clevelandclinic.org/health/diseases/24060-aneuploidy
https://www.webmd.com/baby/your-guide-prenatal-testing

IMPORTANT!

It is essential to remember that the information provided in this section is not intended for self-diagnosis or self-treatment. If you experience any symptoms or a flare-up of a condition, it is crucial to consult a healthcare professional for proper diagnostic testing and treatment. Only a qualified specialist can provide an accurate diagnosis and determine the appropriate treatment plan. To ensure the most accurate and consistent evaluation of test results, it is recommended to have them performed at the same laboratory. This is because different laboratories may use varying methods and units of measurement for similar tests.