COMPREHENSIVE SCREENING FOR THREE SERIOUS GENETIC ABNORMALITIES

Common during pregnancy
numerical chromosome abnormalities for the foetus
most common dominant single-gene inherited diseases
recessive single-gene inherited diseases for the mother

WHAT IS THE SINGLE-GENE NIPT TEST IN THE TRISURE PROCARE PACKAGE?

The first prenatal screening test for dominant single-gene inherited disorders in Vietnam, the NIPT test detects 25 of the most common dominant single-gene inherited diseases – which have a cumulative frequency higher than Down syndrome – with just one maternal blood draw. 

These are serious diseases that affect the quality of children’s lives, but cannot be detected by conventional NIPT testing or screening for recessive disease genes (carrier). Early screening within nine weeks’ gestation will help timely intervention and effective newborn treatment, or a better pregnancy management plan.

Three main causes of
genetic abnormalities in the foetus

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
De novo mutations in the foetus increase with paternal age

Benefits of NIPT test for single gene disorders

(3)​ GeneReviews

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

25 dominant monogenic diseases for the foetus

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
Results returned after 7 days and consultation

Bạn còn thắc mắc?
Hãy kết nối với bác sĩ di truyền

Không ai đơn độc trên hành trình sức khỏe. Bác sĩ và chuyên gia di truyền luôn đồng hành trước và sau xét nghiệm; tư vấn kết quả tận tình, trách nhiệm, đồng thời kết nối với bác sĩ điều trị để lên chiến lược theo dõi và can thiệp tốt nhất.

GENE SOLUTIONS experts are listening to you!

GET MEDICAL CONSULTATION FROM DOCTORS

Tư vấn di truyền