Currently, it is possible the diagnosis of genetic diseases prematurely.

Expert: Carlos Peréz, director of the Health Network UC

These studies suggest specifically to people with a family history, or with clinical scenarios questionable. We also carried out genetic analysis of entire families.

Among the disorders of genetic diagnosis we have chromosomal aberrations such as Down Syndrome or Edwards Syndrome. In Chile, the births of children with Down Syndrome have increased markedly in recent decades. If in 1972 the ratio was one case for every 1,000 births; in 2005 the number reached to 5.2 children.

This increase is due, among other reasons, that our country is becoming more and more common for women to get pregnant after 40 years of age. Beyond the statistics and the causes, what is important is to welcome these children and give them the tools necessary to enable a comprehensive development throughout their life.

Children with this chromosomal disorder have special needs, require increased health care and intensive programs to maximize all of its capabilities.

There are also reproductive illnesses, such as infertility; neurological disorders such as Alzheimer, muscle atrophy, Parkinson's disease, or mental retardation; neoplastic diseases such as lung cancer, breast cancer, ovarian, prostate, stomach, thyroid, pancreas, or leukemia; alterations in metabolic and endocrine, as diabetes, or pancreatic; diseases of skeletal muscle, such as muscular dystrophy, or osteoporosis; hematological disorders, and cardiovascular, such as anemia, or inherited thrombotic; and the diseases multi-systemic, as the sclerosis, or the fibrosis cystic.

The studies to establish Diagnosis of Genetic Diseases (DGE) are carried out by professionals such as doctors, biochemists, and technologists, who employ the highest standards and quality controls, with advanced technology and protocols in accordance with the model of the European Molecular Genetics Quality Network (EMQN) and the UK Clinical Molecular Genetics Society.
To establish DGE, it is occasionally necessary to send the studies, in whole or in part of them, to laboratories located in the united States and Europe.

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