VISTA™ Carrier Screening

Chromosomal deletion or duplication syndromes result from deletion or duplication of parts of chromosomes. They may cause severe congenital anomalies and significant intellectual and physical
disabilities. Vista™ Chromosome Sequencing uses NGS based low coverage whole genome sequencing (WGS) to help detect chromosome abnormalities before or during pregnancy.

The results obtained from testing can reduce a patient’s emotional burden and information from the results can improve the chances of a future successful pregnancy. If the chromosome abnormality in the fetus is identified as causing the pregnancy loss, parents can usually be reassured that the chance of recurrence is low, and avoid a costly medical check-up.


Conditions screened
  • Duchenne Muscular Dystrophy: the most common form of muscular dystrophy affecting children.
  • Wilson disease: Worldwide 1 in 30,000 people have Wilson disease.
  • Cystic fibrosis: one of the most common deadly inherited disorder among Caucasians.
  • Spinal Muscular Atrophy: 1 in 50 people found to be a carrier of this disease.
  • Glycogen Storage Disease: The most comprehensive coverage for all types of pomp disease in the market.
Who should consider for BGI VISTA™Carrier Screening?
  • Individuals or couples who want to know more about their genetic status in order to make more informed reproductive decisions.
  • Individuals or couples receiving donor sperm or eggs and who want to select a donor that doesn’t carry the same mutation as the member of the couple who will provide the gametes.
  • People with a family history of a genetic disease or from an ethnic background known to be at risk for certain genetic diseases and who are therefore at higher risk of being carriers for those diseases.
  • Couples who are already pregnant and who wish to know more about the genetic health of their pregnancy.