Conditions detected by the screen

Illumiscreen looks at the whole genome, meaning all 23 pairs of your baby’s chromosomes.

The three most common chromosome conditions seen in pregnancy, and that can be detected by Illumiscreen are:

  • Down syndrome (trisomy 21)
  • Edwards syndrome (trisomy 18)
  • Patau syndrome (trisomy 13)

Illumiscreen can also identify conditions related to missing or extra sex chromosomes, such as:

  • Turner syndrome (only one X chromosome in a female)
  • Klinefelter syndrome (an extra X chromosome in a male)
  • Other possible conditions are Triple X and Jacobs syndrome

The screen can also identify:

  • Rare autosomal aneuploidies (RAAs) – the most common RAAs detected in NIPS involve chromosomes 7, 16, 15, and 22.
  • Partial duplications and deletions – partial deletion of a chromosome results in the loss of genetic material while duplication of chromosome results in the gain of extra copies of genetic material
  • Copy number variants (CNVs) – this is when sections of the genome (the entire set of DNA instructions) are repeated and the number of repeats in the genome varies between individuals