triSure Procare single-gene NIPT
- 25 7,000 mutations linked to the 25 most prevalent single-gene disorders. These conditions may impact quality of life and require early intervention to prevent them from going unnoticed as the child develops.
- 09 2,800 mutations related to 09 recessive diseases from mothers.
- 27 27 numerical chromosome abnormalities for fetus.
Three main causes of genetic abnormalities in the fetus
Numerical chromosome
abnormalities
Conventional NIPT test
Abnormalities caused by mutations
in recessive genes
Carrier - recessive diseases screening
Abnormalities caused by de novo mutations
in dominant genes
Single-gene NIPT
Why should we care for single-gene disorders?
25 prevalent single-gene disorders have a cumulative frequency higher than Down syndrome. More important, these are serious diseases that affect the quality of children's lives, but cannot be detected by conventional NIPT testing. Early screening within nine weeks' gestation will help timely intervention and effective newborn treatment.
The challenge of monodominant disease is mainly caused by mutations that are not hereditary
- 60 percent of severe single-gene diseases after birth are caused by de novo mutations in the foetus (inherited from neither parent)(1).
- De novo mutations in the foetus increase with paternal age (not related to maternal age), i.e. the older the father (>40 years old), the greater the risk of having a child with a dominant genetic disease caused by a de novo mutation(2).
(1) Baird, P. A. et al. Am. J. Hum.Genet. 42, 677-693 (1988)
(2) ACMG, Practice guideline, June 2008
Number of the novo mutations called
De novo variants
by paternal age
Age of father at conception of child
De novo mutations in the foetus increase with paternal age
Benefits of NIPT test for single gene disorders
Incidence at birth
Down syndromel(*)
25 dominant single-gene diseases(**)
Maternal age
A cumulative frequency 25 dominant single-gene diseases higher than Down syndrome
(*) Snijders et al. Ultrasound Obstet Gynecol. 1999 Mar; 13(3):167-70.
(**) GeneReviews. www.ncbi.nlm.nih.gov/books/NBK1116/
25 prevalent single-gene disorders
Skeletal—connective tissue dysplasias
Achondroplasia, hypochondroplasia, lethal skeletal dysplasias, brittle bone disease, CATSHL syndrome, Ehlers-Danlos syndrome.
Craniosynostosis syndrome
Muenke syndrome, Crouzon syndrome, Antley Bixler syndrome, Apert syndrome, Pfeiffer syndrome, Jackson Weiss syndrome.
Cardlofaciocutaneous syndrome
Noonan syndrome, LEOPARD syndrome, Cardiofaciocutaneous syndrome.
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.
Who should take the single-gene NIPT test?
Pregnant women who want comprehensive screening for their children
Pregnant women whose husbands are older than 40 years of age
Abnormal ultrasound (as prescribed by a specialist: such as increased nuchal translucency in the first trimester of pregnancy)
Those whose family history have detected inherited diseases on the genes in the requested panel
Testing process
Pre-test counselling
Collect 10ml of mother's blood with a Streck tube and separate extracellular DNA
Extracellular DNA sequencing with ultra-sound sequencing NGS technology
