Making cell-free DNA testing accessible to all healthcare providers
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Most comprehensive NIPT solution integrates prenatal single-gene screening

  • 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.

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Three main causes of genetic abnormalities in the fetus

Numerical chromosome
abnormalities

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Conventional NIPT test

Abnormalities caused by mutations
in recessive genes

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Carrier - recessive diseases screening

Abnormalities caused by de novo mutations
in dominant genes

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Single-gene NIPT

Why should we care for single-gene disorders?

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

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

The challenge of monodominant disease is mainly caused by mutations that are not hereditary

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

Benefits of NIPT test for single gene disorders

Down syndromel(*)

25 dominant single-gene diseases(**)

Maternal age

A cumulative frequency 25 dominant single-gene diseases higher than Down syndrome

  • Identify the risk of carrying de novo mutation on 30 genes when pregnant, related to the 25 most common dominant single-gene diseases
  • The cumulative incidence of 25 dominant single-gene diseases is 1/600, higher than Down syndrome (1/700)(3)
  • Screening for dominant diseases not detected by conventional NIPT or latent genetic screening.
  • Can be performed beginning at nine weeks of pregnancy.

(*) 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

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.

Who should take the single-gene NIPT test?

Pregnant women who want comprehensive screening for their children

Pregnant women who want comprehensive screening for their children

Pregnant women whose husbands are older than 40 years of age

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)

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

Those whose family history have detected inherited diseases on the genes in the requested panel

Testing process

Pre-test counselling
Pre-test counselling
Collect 10ml of mother's blood with a Streck tube and separate extracellular DNA
Collect 10ml of mother's blood with a Streck tube and separate extracellular DNA
Extracellular DNA sequencing with ultra-sound sequencing NGS technology
Extracellular DNA sequencing with ultra-sound sequencing NGS technology
Results returned after 7 days and consultation
Results returned after 7 days and consultation