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BRCA 1 and BRCA 2 are tumour suppressor genes that prevent the creation of cancer cells; their action is to maintain the stability of chromosomes, mainly through DNA repair and control of the cellular cycle. Patients with pathological mutations of these genes are at higher risk of developing breast, ovarian, pancreatic or prostate cancer. Checking the mutations of these genes detects the hereditary cancer syndrome at the foetal stage through a simple blood test.
The MLPA method detects hypo-microscopic chromosomal disorders in foetuses, which cannot be found using conventional karyotyping. Such disorders are responsible for certain well characterised syndromes of micro-deficits or micro-multiplications, as well as for a significant percentage of cases with medium to severe idiopathic mental retardation. Implementation of the MLPA (Multiplex Ligation-dependent Probe Amplification) method has significantly expanded the diagnosability of chromosomal disorders in prenatal examinations.
