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| Prenatal Diagnosis Center Thanks to the specialized support of the most important Centers for Prenatal
Diagnosis in Italy, Genoma is able to provide patients with the most advanced instrumental
technologies and highly specialized personnel in order to find solutions to all types of
prenatal problems presently known.
The Prenatal Diagnosis Center performs all diagnoses that
can be presently carried out during the prenatal period (immunological, biochimical,
infectious disease-related, cytogenic and molecular). |
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| This enables the couple to obtain all information
concerning possible anomalies within the first weeks of life of the fetus and consequently
to effect specific therapeutic intervention to safeguard its health and guarantee it the
best quality of life possible. The diagnostic activity of the Prenatal Diagnosis Center
involves two principal types of prenatal studies: Traditional Prenatal Diagnosis
This consists in the search for the most frequent genetic anomalies found at birth such as
Down's syndrome, trisomy of chromosome 21 or aneuploidy of chromosomes 18, 13, X and Y,
both by means of the determination of the fetal karyotype through cell culture in about 15
days, and in only 24/48 hours by means of a particular Molecular Cytogenetic examination
known as Fluorescent in-situ Hybridization (FISH).
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Molecular Prenatal Diagnosis
Aside from traditional studies, this involves the search, through DNA analysis, of genetic
mutations associated with the most frequent and serious genetic diseases. Patients may
thus take advantage of rapid multiple genetic screening for serious diseases such as
Cystic Fibrosis, Fragile X (mental retardation), Beta Thalassemia, Congenital Deafness,
Duchenne-Becker Muscular Dystrophy, Myotonic Dystrophy and many other genetic diseases.
The fetus can be monitored with molecular techniques to search for infectious agents such
as Cytomegalovirus, Herpes simplex, Varicella Zooster, Rubeovirus, HIV, Toxoplasma gondii,
Parvovirus.Once a date has been set for the
diagnostic test (amniocentesis, chorionic villus sampling), the patient will be provided
with an accurate and detailed brochure, containing all information necessary to conduct
the examination. Explanations are written in clear and easily understood language. The
patient is thus fully informed as to the preliminary examinations she must undergo before
the prenatal diagnostic test is conducted as well as the diagnostic possibilities of the
test requested. She can read the informed consent form that must be signed before
undergoing any diagnostic procedures and evaluate the the cost of the service requested. |
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