NIPT (Prenatal Screening)

The SG BabyTest range from Sistemas Genómicos is designed to establish the level of risk of the fetus being a carrier of an aneuploidy* (different number of chromosomes) at an early stage of pregnancy. In addition, the Advanced version identifies partial aneuploidies (CNVs) related to 10 known microdeletion syndromes.

During pregnancy, short fragments of the foetal DNA from the cytotrophoblast are released into the blood stream and circulate alongside other fragments of the mother’s DNA in her blood plasma.

Using a peripheral sample of the mother’s blood, the plasma is separated and the DNA is extracted, which is then analysed using whole genome bidirectional massive sequencing technology in our laboratories.

  • Suitable from week 9 of gestation, it requieres a mínimum of 3.5% of fetal fraction
  • Our experts in prenatal diagnosis and in the NIPT test will resolve any queries that might arise during the process.
  • In case of chromosome suspected chromosome abnormality, Sistemas Genómicos offers free invasive procedure (QF-PCR, FISH or Array)

Services

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SG BabyTest Plus

This non-invasive prenatal test (NIPT) examines chromosomes* to assess the risk of aneuploidy* in the fetus, also it also reports the fetal sex.

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SG Baby Test Advanced

This non-invasive prenatal test (NIPT) examines chromosomes* to assess the risk of aneuploidy* in the fetus, it identifies partial aneuploidies (CNVs) and it also reports the fetal sex.

Type of Services

SG BabyTest range is suitable for:

  • For Whom? For all pregnant women who, after week 9 of gestation wish to rule out the possibility of chromosome aneuploidies*, regardless of their genetic condition or previous family history. It can also be carried out on pregnancies achieved using assisted conception and with donated eggs.
  • What does it analyze?

SG Baby Test Plus:

  • Trisomy 18, associated with Edwards syndrome
  • Trisomy 13, associated with Patau syndrome
  • Trisomy 16 and 22, associated with sudden miscarriage, as well as less common aneuploidies like those of chromosomes 9 and 15.
  • Aneuploidies of the sex chromosomes
    • Turner syndrome
    • Klinefelter syndrome
    • Triple X
    • X polysomy

SG BabyTest Advanced includes all the characteristics of SG BabyTest Plus and it identifies microdeletions related to 10 syndromes:

  • Angelman syndrome
  • Prader-Willi syndrome
  • 1p36 deletion
  • Cri-du-chat syndrome
  • Wolf-Hirschhorn syndrome
  • Jacobsen syndrome
  • Langer-Giedion syndrome
  • DiGeorge II syndrome
  • Phelan-McDermid syndrome
  • 16p11.2 – p12.2 deletion
  • With which technique? Our experts conduct the study using paired-end NGS technology and next-generation molecular quantification techniques. For optimal results, SG BabyTest requires 3.5% of fetal DNA in the sample to detect the presence or absence of aneuploidies* or CNVs. As body mass increase reduces fetal fraction, in the case of pregnant women with obesity (BMI>30), a previous molecular test is recommended to determine the percentage of fetal DNA and, it also reports on the gender of the fetus.

* Consult the chromosomes included according to the type of service

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