non-invasive prenatal test (nipt) ... of maternal blood is needed. only one sample of maternal blood...

Click here to load reader

Post on 14-Sep-2020




0 download

Embed Size (px)


  • The most complete answer about your baby's health.

    Parque Tecnológico de Valencia.

    Ronda G. Marconi, 6 46980 Paterna (Valencia).

    T (+34) 961 366 150

    [email protected]

    In Sistemas Genómicos (ASCIRES Group)

    we are committed to improve our patients

    and their families’ life quality. Therefore,

    we design high quality tools for diagnosis,

    combining the most advanced technology

    with the latest scientific research.

    In this way, we present SG BabyTest, the most complete

    range of Non-Invasive Prenatal Test, developed by experts in

    reproductive health and genetics with over 20 years of

    experience in invasive prenatal diagnosis.

    SG BabyTest Plus: Analyses chromosomes of fetal DNA

    including sexual ones.

    SG BabyTest Advanced: Apart from chromosomes of fetal DNA,

    it includes the analysis of microdeletions.

    Sistemas Genómicos, belonging to ASCIRES Biomedical

    Group, is pioneering in Europe in the application of Next

    Generation Sequencing (NGS) in genetic diagnosis. Our

    expertise in investigation and development of genetic

    diagnosis services is based on our huge experience in the

    study of genome and human genetics.


    NOTE: Chromosome 21 is excluded of CE-IVD mark

  • What is SG SG BabyTest Plus / Advanced? SG BabyTest, from one simple mother blood extraction, allows to stablish with high reliability

    the risk of chromosomal abnormalities that can affect you baby’s health. It is the most

    complete Non-Invasive Prenatal Test as it analyses all the chromosomes:

    When is SG BabyTest particularly recommended ? • Advanced maternal age

    • History of pregnancies with chromosomal aneuploidy.

    • Foetuses with certain ultrasound abnormalities.

    • High or intermediate risk established by the biochemical screening.

    SG BabyTest can be used for all pregnant women who want to rule out chromosomal aneuploi-

    dies, regardless of their genetic condition or family history.

    How does SG BabyTest work? During pregnancy, small fragments of fetal DNA circulate alongside other fragments of

    maternal DNA in the mother's blood. From a maternal blood sample, we extract the DNA and

    we examine it with the latest next-generation sequencing. The result is deeply examined by our

    experts that analyses the results to determine the risk of chromosomal abnormalities.

    What do SG BabyTest results mean?

    Why SG SG BabyTest?

    • Trisomy 21* associated with Down syndrome.

    • Trisomy 18 associated with Edwards syndrome.

    • Trisomy 13 associated with Patau syndrome.

    • Trisomías 16 y 22, asociadas a aborto espontáneo.

    • Trisomies for chromosomes 16 and 22, most often associated with spontaneous

    abortion, as well as other less common types of aneuploidy such as those of

    chromosomes 9 and 15.

    • Sex chromosome aneuploidies: Turner syndrome (presence of a single X sex

    chromosome), Klinefelter syndrome (XXY), triple X syndrome and polysomy X.

    SG Baby Test Advanced, the amplified version of SG BabyTest Plus identifies** partial

    aneuploidies (CNVs) related to 10 known microdeletion syndromes.

    • Angelman Syndrome.

    • Prader-Willi Syndrome.

    • 1p36 deletion.

    • Cri-du-cha Syndrome.

    • Wolf-Hirschhorn.

    • Jacbosen Syndrome.

    • Langer-Giedion Syndrome.

    • DiGeorge II Syndrome.

    • Phelan-McDermind Syndrome.

    • 16p11.2-p12.2 deletion.

    It also allows to distinguish your baby’s gender

    High risk High probability of fetal chromosomal

    aneuploidy in the indicated chromosome.

    In this case, Sistemas Genómicos offers free invasive procedure (QF-PCR, FISH or

    Array) to check the results.

    Low risk Very low probability of fetal

    chromosomal aneuploidy in any of the analysed chromosomes.

    The test is carried out by experts with more than

    20 years of scientific and investigation


    SG BabyTest analyses all the chromosomes and the Advanced version also includes 10 microdeletions.

    It detects the presence of chromosomal

    aneuploidies with high reliability.

    Without any risk for the mother or the baby as only one sample of maternal blood

    is needed.

    Only one sample of maternal blood is needed

    BabyTest is a Non-Invasive Prenatal Test that does not imply any risk for the baby

    It reports CNVs related to 10 known syndromes

    From week 9 of pregnancy

    Precision Security



    * Chromosome 21 is excluded of CE-IVD mark ** Some of these syndromes may be due to other alterations (i.e. mutations) that would not be detected by this test.