Making cell-free DNA testing accessible to all healthcare providers

In vietnam

EVERY 13 MINUTES

a baby is born with a genetic condition

41,000

newborns with congenital abnormalities/year

1,800

children with Down syndrome/year

8,000

children with thalassemia/year

According to Ministry of Health and population statistics in 2017

What is trisure NIPT test?

What is trisure NIPT test?

triSure is a non-invasive prenatal screening test that uses cell-free foetal DNA released into maternal blood for early detection of foetal risk of serious birth defects, which are common due to numerical chromosome abnormalities.

triSure employs Next-Generation Sequencing technology, Illumina, USA and is the only NIPT test in Vietnam developed based on a genetic database of more than 200,000 pregnant Vietnamese women, with an outstanding accuracy of >99%.

Early detection of common genetic birth defects in the foetus helps early intervention and creates an opportunity for parents to manage pregnancy plans more effectively, while preparing for the next pregnancy.

Trisure NIPT has its own algorithm (trisure algorithm) and technical process, which are validated by international publications (*)

Trisure NIPT has its own algorithm (trisure algorithm) and technical process, which are validated by international publications (*)

  • The triSure algorithm is the world's first additive algorithm to help differentiate between foetal and maternal DNA, recognize maternal mosaicism and foetal abnormalities, and increase test accuracy. - triSure is the NIPT test that reduces the need for amniocentesis, 25 times more than other biochemical tests. (**)
  • triSure helps to minimise false positive cases (positive test results when the foetus is really disease-free. (***)

Trisure NIPT has its own algorithm (trisure algorithm) and technical process, which are validated by international publications (*)

(*) International publication “Establishing and validating non-invasive prenatal testing procedure for foetal aneuploidies in Vietnam”.

(**) Published in the Vietnamese Medical Journal “Investigate positive predictive values of NIPT triSure noninvasive prenatal test in medical practice” by Patricia AT, et al (2016); “Noninvasive prenatal testing in the general obstetric population: clinical performance and counselling considerations in over 85,000 cases”, Prenatal Diagnosis, 36, 237 243 & Petersen AK, et al. (2017). “PPV estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory”, Am J Obstet Gynecol; 217:691. e1-6.

(***) International publication “Reducing false positive rate of foetal monosomy X in non invasive prenatal testing using a combined algorithm to detect maternal mosaic monosomy X”

Benefits of trisure NIPT

Early screening for serious and common birth defects in the foetus. Early detection of common genetic birth defects in the foetus.

Early screening for serious and common birth defects in the foetus. Early detection of common genetic birth defects in the foetus.

Performed at nine weeks or more of pregnancy and is recommended as the first test for pregnant women.

Performed at nine weeks or more of pregnancy and is recommended as the first test for pregnant women.

Sensitivity and specificity >99% can replace biochemical tests such as double test.

Sensitivity and specificity >99% can replace biochemical tests such as double test.

Early screening for timely intervention or a better pregnancy management plan, appropriate delivery management, postnatal care and preparation for the next pregnancy.

Early screening for timely intervention or a better pregnancy management plan, appropriate delivery management, postnatal care and preparation for the next pregnancy.

Many supportive options after testing:

  • FREE screening package for nine common recessive genetic diseases for mothers.
  • Support the cost of chorionic villus sampling/amniocentesis and diagnosis for cases with positive results.
  • Support for the CNVsure/G4500 test worth VND 8,500,000 if the NIPT is negative, but the ultrasonography is abnormal (not applicable to triSureFirst).
  • Insurance on the result of 200 million VND.
  • A team of genetic counselors accompanies obstetricians and pregnant women throughout the pregnancy.

Testing scope of trisure NIPT

Numerical chromosome abnormalities in the foetus

Down

Down

Edwards

Edwards

Patau

Patau

Turner

Turner

Klinefelter

Klinefelter

Rare trisomies

Rare trisomies

Dominant monogenic diseases for the foetus

Skeletal—connective tissue dysplasias

Skeletal—connective tissue dysplasias

Achondroplasia, hypochondroplasia, lethal skeletal dysplasias, brittle bone disease, CATSHL syndrome, Ehlers-Danlos syndrome.

Craniosynostosis syndrome

Craniosynostosis syndrome

Muenke syndrome, Crouzon syndrome, Antley Bixler syndrome, Apert syndrome, Pfeiffer syndrome, Jackson Weiss syndrome.

Cardlofaciocutaneous syndrome

Cardlofaciocutaneous syndrome

Noonan syndrome, Leopard syndrome, Cardiofaciocutaneous syndrome.

Syndromic disorders

Syndromic disorders

Alagille syndrome, Charge syndrome, Cornelia de Lange syndrome, Costello syndrome, childhood epilepsy, intellectual disability, juvenile myelomonocytic leukaemia, Rett syndrome, Sotos syndrome, tuberous sclerosis.

Monogenic recessive diseases from the mother

Alpha thalassemia

Alpha thalassemia

Frequency of Vietnamese carriers: 1/22
Beta thalassemia

Beta thalassemia

Frequency of Vietnamese carriers: 1/32
Milk allergy (Galactose metabolism disorder)

Milk allergy (Galactose metabolism disorder)

Frequency of Vietnamese carriers: 1/416
G6PD Deficiency

G6PD Deficiency

Frequency of Vietnamese carriers: 1/36
Protein intolerance (Phenylketonuria)

Protein intolerance (Phenylketonuria)

Frequency of Vietnamese carriers: 1/60
Cholestatic jaundice due to citrin deficiency

Cholestatic jaundice due to citrin deficiency

Frequency of Vietnamese carriers: 1/32
Male sexual differentiation disorder due to deficiency of 5-alpha reductase enzyme

Male sexual differentiation disorder due to deficiency of 5-alpha reductase enzyme

Frequency of Vietnamese carriers: 1/45
Pompe disease (glycogen-storage disease type 2)

Pompe disease (glycogen-storage disease type 2)

Frequency of Vietnamese carriers: 1/52
Wilson's disease (disorder of copper metabolism)

Wilson's disease (disorder of copper metabolism)

Frequency of Vietnamese carriers: 1/110
* Exclusive research data on 26,000 Vietnamese people and an international publication titled “Frequency of latent disease in Vietnamese people” based on statistics from 985 G4500 samples published in the Human Mutation journal IF 4.8

Testing process

Pre-test counselling

Pre-test counselling

Taking the mother's blood and separate extracellular DNA

Taking the mother's blood and separate extracellular DNA

Sequencing of cell-free DNA

Sequencing of cell-free DNA

Counting-base analysis

Counting-base analysis

Returning results and post-test counselling

Returning results and post-test counselling

Compared to biochemical screening

There is a 25-fold reduction in unnecessary amniocentesis (**)

Only 3 of every 100 positive cases are abnormal, with the remaining 97 cases being amniocentesis.

Biochemical test

Compared to biochemical screening

There are 97 abnormal cases for every 100 positive cases, minimizing inappropriate amniocentesis.

triSure NIPT

Compared to biochemical screening
(**) Published in the Vietnam Medical Journal "Determining the positive predictive value of the noninvasive prenatal test NIPT in medical practice."
Missed cases are reduced by 15 times (false negatives)

85% detection rate for biochemical screening (for every 100 cases, 15 cases are missed)

Biochemical test

Compared to biochemical screening

99% detection rate (For every 100 cases, less than 1 case is missed)

triSure NIPT

Compared to biochemical screening
(Grace et al. Obstet Gynecol Surv, 2016 August, 71(8): 477-487)

Our spotlight tests

Test for genetic abnormalities
Test for genetic abnormalities
trisure 9.5
trisure 3
Test for genetic abnormalities
Down - Edwards - Patau
(T21 - T18 - T13)
Turner syndrome (XO)
Triple X syndrome (XXX)
Klinefelter syndrome (XXY)
Other numerical chromosome
abnormalities: 1-12, 14-17, 19-20, 22
09 Hereditary Recessive disease
for mom (extra option without fee)
25 dominant single-gene
diseases for fetuses

Applies to triSure Procare, triSure & triSure9.5

Screening test for 09 recessive genetic disorders

  • Alpha thalassemia
  • Protein intolerance (PhenvIketonuria)
  • Beta thalassemia
  • Milk allergy (Galactosemia)
  • G6PD deficiency
  • Neonantal cholestasis jaundice due to citrin deficienc
  • Disorder of sex development in males due to 5 alpha-reductase deficiency
  • Pompe disease (type II glycogen storage disorder)
  • Wilson's disease (disorder of conner metabolism)
Test for genetic abnormalities

Optional & no additional fee

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