During pregnancy, there are several checkpoints to determine (as far as possible) whether the fetus will develop a disease. At NIMGenetics we want to be there for you during this stage.
The combined first trimester screening focusses on Down’s, Edward’s and Patau syndromes (trisomies 21, 18 and 13, respectively). This test involves a biochemical analysis and an ultrasound scan (in some cases, two). The result of this process indicates the risk of the baby being born with a genetic abnormality. When this risk exceeds a certain threshold, an invasive test (amniocentesis or chorionic villus sampling) may be considered. These tests are fully confirmatory, but carry a risk of miscarriage. Today, pregnant women have a new tool available to them in the form of TrisoNIM®, the maternal blood fetal DNA test that can safely provide genetic information about the baby.
This is a screening test with a near-100% sensitivity for trisomies 21, 13 and 18. Therefore, these conditions can be ruled out with a very similar reliability to invasive tests, but without any risk to mum or baby. Geared towards a global genetic approach, TrisoNIM® assesses the risk of the baby being a carrier of aneuploidies in the other chromosomes, while also determining the fetal sex by analysing the sex chromosomes. Furthermore, the different types of TrisoNIM® test allow other regions of the genome to be analysed and reported on, including microdeletion syndromes and dominant monogenic disorders.
|Analyses all chromosomes.||✓||✓||✓||✓|
|Detects fetal trisomies 21, 18 and 13.||✓||✓||✓||✓|
|Provides information about the sex of the fetus and the most common sex chromosome aneuploidies||✓||✓||✓||✓|
|Reports microdeletion syndromes||3||7||38||38|
|Studies dominant monogenic diseases*
Information not contemplated with current approaches
|Valid for egg donation||✓||✓||✓||x|
|Includes nutrigenetics test after pregnancy||x||x||✓||✓|
|Turnaround time in working days||7||5||8||15|
|Price||575 €||795 €||915 €||1485 €|
Also available TrisoNIM® for twin pregnancies
Contact us for more information.
Analyses all chromosomes.
Detects fetal trisomies 21, 13 and 18.
Provides information on 3 microdeletion syndromes
Provides information about the sex of the foetus and the most common sex chromosome aneuploidies
Results in 7 working days*
By only needing to test the mother’s blood, it avoids the risk of miscarriage following amniocentesis.
ENAC accreditation ISO 15189 Standard for fetal aneuploidy screening (chromosomes 13, 18, 21, X and Y), as well as for maternal blood fetal sex determination through massive parallel sequencing (NGS). Certified by Bureau Veritas, in accordance with the requirements of theISO 9001:2015, Standard, for providing genetic testing services in pre-analytical, analytical and post-analytical stages for the specialities of genomics, non-invasive prenatal testing and molecular diagnostics.
Combines next-generation sequencing technology with the most advanced bioinformatics analysis. Uses a dual analysis algorithm to improve accuracy, both in risk calculation and in fetal fraction, which is crucial to the reliability of the test. This value is calculated rigorously and in detail, in accordance with international recommendations.
NIMGenetics has carried out over 50,000 prenatal tests and more than 60,000 maternal blood fetal DNA tests.
TrisoNIM® is a flexible service that adapts to your needs. It includes different types of analysis that mainly differ in the number of syndromes being tested. If you would like the most complete test, TrisoNIM® NeoSeq is the one for you.
A high-risk result following a fetal DNA test must be confirmed by an invasive test. In these cases, NIMGenetics offers you KaryoNIM® Prenatal, a diagnostic test that analyses 124 syndromes quickly and efficiently, free of charge.
NIMGenetics has the best technical and medical team specialising in prenatal genetic testing, with Medical Genetics experts and members of the Spanish Association of Prenatal Diagnosis (AEDP) and the Spanish Association of Human Genetics (AEGH). We are endorsed by the most powerful genomics company in the world (BGI).
*Working days only (does not include Saturdays, Sundays and public holidays in Madrid). The turnaround time is calculated from the reception of the sample in our Laboratory (normally, the next working day after extraction). We cannot account for unforeseeable delays in transport. This date is a non-personalised estimate for samples taken in Spain.