Prenatal test developed at InterGenetics detects most of serious genetic diseases

3 June 2016
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InterGenetics announced FetalSafe®, a new genetic test designed and implemented for the first time, that detects easily and safely hundreds of different serious genetic diseases which may affect the newborn child. The scientific team is headed by Professor C. Pangalos and Dr. C. Konialis, who designed this new extended prenatal test.

This test is based upon sophisticated analysis methods of the fetal genome, obtained safely either in the 1st trimester by chorionic villi sampling (CVS) or in the 2nd trimester through amniocentesis. This is a diagnostic test and the results are available in only 7 days, in contrast to other prenatal tests which are based on statistical risk calculations and are not diagnostic.

‘It is calculated that approximately 1 in 50 newborns are affected with genetic disorders presenting with physical disabilities, dysmorphic features, malformations and/or intellectual disability. Most of these diseases are due to genetic defects of chromosomes or genes, i.e. of the “human software”, and may appear suddenly in the fetus or they may be inherited from carrier parents, which are healthy and are thus not aware that they are carriers’ commented Dr. Constantinos Pangalos, a Medical Geneticist and Director of InterGenetics-Diagnostic Genetics Center (www.intergenetics.eu), who also served as Associate Professor of Medical Genetics in the Necker-Enfants Malades School of Medicine of University of Paris V.

pangalos

And Dr. Pangalos continued: ‘ The effects of most of these genetic lesions are very serious and concern the quality of life of the affected infants. So now that we have the technological means for the timely detection before birth, we as geneticists should not stay without proposing diagnostic and prevention methods and ideally all pregnancies should be offered these testing options ‘

This new test is named FetalSafe® and is performed through a combination of two advanced diagnostic procedures: 1) the new expanded molecular karyotype, which will detect all clinically important chromosomal abnormalities and 2) genomic analysis through the new massive parallel sequencing – NGS technique, which analyzes all pathological mutations in 305 genes related to more than 350 severe genetic disorders.

Which are the most important genetic disorders diagnosed through the FetalSafe® test ?

The test will accurately diagnose chromosomal abnormalities, such as:

  • Down syndrome (trisomy 21),
  • Edward’s syndrome (trisomy 18),
  • Patau syndrome (trisomy 13),
  • all other numerical chromosomal abnormalities, and also
  • sub-microscopic chromosomal abnormalities, not detected through conventional karyotype analysis, such as microdeletions or microduplications associated with several hundred genetic syndromes.

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In parallel, the FetalSafe® test will detect pathogenic mutations in ~305 genes,  thus leading to the safe diagnosis of several severe genetic diseases, such as:

  • β-thalassemia,
  • cystic fibrosis,
  • many forms of deafness,
  • 170 neurogenetic disorders, such as Duchenne/Becker muscular dystrophy,
  • many diseases affecting the eye-vision, such as retinopathies,
  • 22 metabolic disorders,
  • 90 severe pediatric diseases, such as Noonan syndrome, Smith-Lemli-Opitz syndrome, polycystic kidney disease infantile type, many types of osteogenesis imperfecta, Treacher-Collins syndrome, etc.
  • other genetic disorders with adult onset, such as Marfan syndrome, neurofibromatosis, adult polycystic kidney disease, etc.

‘ It is therefore clear that this test includes a very large number of genetic diseases and has the great advantage that it leads to a final and secure diagnosis, since it is not based on statistical calculations which leave a high degree of uncertainty, as is the case with other genetic tests e.g. non-invasive prenatal diagnosis from maternal blood (NIPT), which practically concerns Down syndrome only ‘, said Dr. Pangalos. ‘Moreover it provides results rapidly, within one week, which is very important for the tranquility of the parents. All expectant parents who have performed the test feel reassured and relieved that they have excluded most of the serious genetic diseases which may have occurred in their child ‘.

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