PRENATAL DIAGNOSIS

 24 FETAL KARYOTYPE SCREENING

Aneuploidies, Deletions and Segmental Duplications, on all chromosomes of the fetal karyotype


 130 ANEUPLOIDIES

DELETION and DUPLICATIONA, Segmental Duplications, on all chromosomes of the fetal karyotype

MICRODELETION/MICRODUPLICATION SYNDROMES


 7000 GENETIC DISEASES

There are over 20,000 genes that code for proteins, and which together make up the exome.

Mutations in ~5,000 of these genes are associated with ~7,000 genetic diseases with known phenotypes.


 20,000 GENES

The test, by analyzing the entire coding fetal genome (exome), allows screening the fetus for thousands of clinically known genetic diseases.

NEW NIPT TEST

The first non-invasive prenatal test that analyzes the entire fetal genome

(OVER 20,000 GENES)

 

Compared to traditional NIPT, it demonstrated superior sensitivity and specificity, resulting in a significant reduction in false positives (40 vs 11) and false negatives (2 vs 0). The sensitivity of the test reached 100%

(vs. 98.4% for traditional NIPT test)



Unlike traditional NIPT tests, which due to their low resolution focus exclusively on the detection of aneuploidies and structural chromosomal abnormalities, Genome offers a technologically advanced solution.

In addition to detecting common and rare fetal aneuploidies, deletions, duplications, and microdeletion/microduplication syndromes, the test allows screening for ~7,000 serious and clinically known genetic diseases, both inherited and de novo.

This is possible thanks to high-resolution sequencing of the entire protein-coding fetal genome (exome), which includes more than 20,000 genes.

Genome's Plus level also includes a carrier screening test for both parents to assess carrier status for gene mutations associated with ~7,000 genetic diseases.


beyond:

Most common chromosomal aneuploidies Trisomy 21 Trisomy 18 Trisomy 13 Monosomy X XXX XXY XYY Other less frequent chromosomal aneuploidies Trisomy 1 Trisomy 5 Trisomy 9* Trisomy 14 Trisomy 19 Trisomy 2 Trisomy 6 Trisomy 10 Trisomy 15 Trisomy 20 Trisomy 3 Trisomy 7 Trisomy 11 Trisomy 16* Trisomy 22* Trisomy 4 Trisomy 8 Trisomy 12 Trisomy 17

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