Prenatal screening (exome) using the latest advances in biomedical technology.
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Prenatal screening tests allow detection of possible chromosomal abnormalities during the gestational period. Aneuploidy is the variation in the number of chromosomes being monosomies and trisomies the most frequent. In the trisomy, instead of two copies of each chromosome, there are three copies of a given chromosome, while monosomy occurs when there is absence of one of the two copies of a chromosome pair.
Empireo offers a prenatal non-invasive screening test, which is effective, precise and safe for mother and fetus.
The test is performed through the analysis of the fetal DNA which is found in the maternal blood and combines the technology of next generation sequencing (NGS) together with advanced bioinformatics analysis. This test is used to estimate the risk for the fetus to suffer from trisomies of chromosomes 21(causing Down Syndrome), 18 (Edwards Syndrome) and 13 (Patau Syndrome). Moreover, evaluates the presence of microdeletion syndromes 1p36 and 2q33.1, as well as, the Cri-du-chat syndrome affecting small portions of genome. It determines the presence of the X and Y sex chromosomes which allows evaluating the presence the most common sex chromosome aneuploidy (causing, among others, Turner and Klinefelter syndromes, or XXX and YYY) and making it possible to know the fetal sex with 98% sensitivity.
The technology of the test is scientifically supported by publications including studies of more than 11,000 pregnancies. Currently, all tests use a database including more than 211,000 patients. Moreover, leading medical societies such as the Society for Maternal-Fetal Medicine (SMFM) and the American College of Obstetricians and Gynaecologists (ACOG), recommend the noninvasive fetal DNA tests in maternal blood to all expectant mothers who have high risk of aneuploidy or with positive standard screening results in the first or second trimester.
Indications of prenatal test
Your gynecologist, depending on your particular situation and antecedents, will advise you for prenatal screening test. This test is a genetic screening test and therefore should be prescribed by a medical professional. It is especially indicated in the following steps:
- Maternal age greater than or equal to 35.
- If alterations are suspected after ultrasound examination.
- Previous history of pregnancy with chromosomal abnormalities.
- Outcome high risk of aneuploidy including biochemical screening in the first semester, sequential or combined, and also with triple or quadruple screening.
- Presence of balanced translocation in progenitors involving chromosomes 13 or 21.
Interpretation of results of prenatal screening
- If prenatal testing indicates low risk, the probability of having a baby with the analyzed chromosomal aneuploidies is very low. As with other screening test, a low risk reduces but does not eliminate the likelihood of fetal alterations.
- If the results of prenatal testing indicate a high risk, there are more chances of having a baby with the analyzed chromosomal aneuploidies. Your doctor will give advice and information about alternative genetic diagnostic tests to determine if your baby has any of these alterations.
- It is important to remember that a high risk result with has to be confirmed by an amniocentesis, an invasive technique, involving the extraction of amniotic fluid.
- The test indicates whether the unborn child will be male or female with a probability of 98%.
If you want more detailed information contact us, and our geneticists will be happy to explain how you can get the most out of your results. Note that this test is performed at an external center.