Prenatal Genetic Diagnosis

Roughly 15% of the world’s population (estimations from 2010) has learning disabilities and 1 in every 33 new-borns has congenital anomalies. These disorders have severe effects and generally involve a deterioration of cognitive and adaptive abilities.

It is estimated that the main etiological cause of these disorders is genetic factors.

The prevalence of learning disabilities along with congenital anomalies make up for about 14% of all births.It is estimated that 3-6% of new-borns have some kind of congenital anomaly, in many cases with a genetic cause; the most common risk factors are family background, advanced age of the mother or having previously had a child with a chromosome syndrome.

Affected individuals have a huge challenge to survive including pathologies in various organs and physical limitations, and those associated with mobility, learning and social interaction.

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Conventional and Molecular Cytogenetics

The conventional cytogenetic study, carrying out a karyotype, allows us to study numerical and/or structural abnormalities (insertions, translocations, deletions, duplications, etc.), with reference to any chromosome with an estimated resolution of 7-8 Mb.

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Prenatal Array and Microarray

Prenatal array allows us to identify dosage abnormalities (deletions or duplications), heterozygosity, aneuploidies and triploidies in any chromosome region, including those associated with known syndromes and recurring genomic disorders.

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At Sistemas Genómicos, we are experts at implementing three types of microarrays: constitutional, prenatal and expression.

Microarrays (also known as molecular karyotype) allow us to detect gains and losses of genetic material with a high resolution and a pan-genomic nature (the study is carried out on the whole genome).

It can be very important to study the expression profile for certain diseases, with special relevance for cancer. RNA arrays allow us to evaluate and compare expression profiles in normal and tumour tissues, in cell cultures treated with a certain form of chemotherapy and without treatment, or to establish which stage of development a certain tissue is at.

At Sistemas Genómicos, we offer the possibility to analyse genetic material from the foetus using and/or combining different techniques:

  • Molecular and conventional cytogenetics: karyotype and FISH.
  • Cytogenomics: molecular karyotype using microarray.
  • Cytogenetics and oncohaematological FISH.

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