NON-INVASIVE

Why you should get an NIPT:

NIPT test is a relatively expensive test but is an extremely great precaution to ensure preparedness for potential issues. Genetic abnormalities like chromosomal trisomy are extremely serious and cause many issues for the baby’s physical, mental and social well-being. For example, Down syndrome (Trisomy 21) causes reduced mental capacity and visible deformations, and Patau’s syndrome (Trisomy 13) has extremely high death rates, with more than 9 out of 10 children with Patau’s syndrome dying during the first year.

For the well-being of the family and the baby, being aware of potential dangers and consequences are necessary. So conducting preventive healthcare like detailed scans and NIPT gives time for families to prepare for the baby and possible conditions it may have, including learning about it, treatment or therapy plans, or researching about assistive technologies available to improve day-to-day life.

How NIPT works:

A mother’s blood contains traces of their baby’s DNA in it. So, the medical professional will extract blood from your arm with a needle and syringe and put it into a specific tube (cell-free DNA blood collection tube/BCT) to be sent off. The extraction process is just the typical blood withdrawal so you shouldn’t be worried.

The mother’s plasma contains the cell-free DNA (cfDNA) of the fetus, which is then sequenced to examine genetic information. In simpler terms, the DNA of the baby is then screened and analyzed from the mother’s blood sample.

What does NIPT test for:

• Gender determination
• Chromosomal trisomy (three chromosomes rather than the normal pair of chromosomes):
  
  • Down syndrome (Trisomy 21)
  • Edwards syndrome (Trisomy 18)
  • Patau’s syndrome (Trisomy 13)
  • Sex chromosome trisomies (XXX, XXY, XYY)
• 22 types of fetal chromosomal aneuploidy (abnormal number of chromosomes)
• 20 types of microdeletion/microduplication syndromes (parts of the gene are duplicated or deleted)
• 
  

Why you should use Blessono’s NIPT:

• A modern and new sequencing technique that is highly sensitive and specific to screen for fetal aneuploidy (abnormal number of chromosomes) which can directly reflect the situation of abnormal chromosomes
• The sequencing data is analyzed using an established bioinformatic pipeline with comprehensive databases (AKA, uses reliable and detailed information sources)
• The result is calculated as Z-score, which represents the quantitative variations of the chromosome of interest
  
  • Z-score is helpful for the accurate judgment of NIPT results as it has:
    
    • significantly associated with true-positive results
    • excellent clinical association

NIPT experimenting results:

Common diseases	Sensitivity	Specificity	PPV
T21	98.70-99.99%	99.988%	96.56%
T18	95.75-99.99%	99.987%	88.54%
T13	79.41-99.99%	99.977%	50.00%
47,XXX	87.66-99.99%	99.986%	70.00%
47,XXY	94.79-99.99%	99.981%	81.18%
47,XYY	92.60-99.99%	99.986%	80.00%
45,X	87.22-99.99%	99.908%	25.96%

Validated with clinical experience from > 140,000 pregnancies 

Sensitivity:

The ability of a test to correctly identify patients with a disease.

Positive predictive value (PPV):

The probability that they have the disease given a positive test result.

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