Prenatal Screening and Methods for Prenatal Genetic Diagnostics

One of the main approaches to prophylactics of  genetic disorders is the prenatal screening  (PS). It is closely related to genetic counseling and usually represents the final stage of the congenital abnormalities and genetic defects prevention. The undertaking of PS is generally based on confirmed risk of specific fetal defect in a particular pregnancy. Actually, prenatal screening is a set of methods and techniques for detecting various deviations (morphological or functional) in the normal phenotype of the embryo, as well as certain diseases, during the fetal development.

The prenatal screening is a set of methods and techniques for the establishment of different variations (morphological and functional) in the normal phenotype of the fetus and several diseases during fetal development.

Prenatal screening has strong legal, social and ethical dimensions – it helps the future mother or family to make an informed choice and to take the personal and social responsibility related to this choice.

The non-invasive molecular genetic blood test PrenaTest™ can detect fetal Trisomy 21 (Down Syndrome), Trisomy 13 (Patau Syndrome), and Trisomy 18 (Edwards Syndrome) with a high degree of accuracy. For the purpose, venous blood is taken from the pregnant woman and is then analyzed by using next generation sequencing techniques. With its low false-positive rate of 0.5%, this test allows early diagnosis of fetal malformations and therefore reduces the number of unnecessary invasive examinations of pregnant women, without any risk for the unborn child. PrenaTest™ is an innovative non-invasive method for prenatal diagnostics, which complements perfectly the common prenatal examinations and in contrast to invasive methods such as amniocentesis or chorionic villus sampling it does not carry the risk of procedure-related fetal losses. In accordance with the recommendations of the prenatal medicine specialists, positive test results need to be further clarified diagnostically by means of an invasive examination. PrenaTest™ is carried out after the 12 week of pregnancy and is recommended for women with a higher risk of having a baby with Down Syndrome, Patau Syndrome or Edwards Syndrome. The pregnant woman, who has opted to undergo the PrenaTest™, should consult her gynecologist and/or medical genetics specialist, to be able to take the most appropriate decision for the development of her pregnancy.

PrenaTest™ in Bulgaria

Following the successful market launch of the PrenaTest™ in Germany, Austria, Switzerland, and Liechtenstein, the first European non-invasive molecular genetic blood test for detecting Down Syndrome, Patau Syndrome, and Edwards Syndrome from maternal blood is already available for the pregnant women in Bulgaria. Following genetic counseling, this blood test should exclusively be offered to women at a higher risk of having a baby with Down Syndrome, Patau Syndrome or Edwards Syndrome.

For more information, visit the PrenaTest™  website.

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Dr. Tchalmanov Medical Practice is a frirst class private gynaecology practice which offers high quality medical care to women and families countrywide.

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