The development of my work in the context of human reproduction is based on assessment and my specialism as a clinical geneticist.
What role does a geneticist play in a reproductive unit?
My work focuses on genetic assessment. Both prior to conception, with genetic testing and screening for hereditary diseases, and in the postnatal period by helping to diagnose congenital disorders and the subsequent widening of genetic assessment to include the different members of the family at risk.
Therefore it is necessary to advise genetic testing, the subsequent interpretation of the results obtained, and the evaluation of the risks for different family members.
My work also focuses on advising on different reproductive options for high genetic risk couples. One of my responsibilities lies in the selection of appropriate donors for couples in need of them, basing my decisions on the results of genetic screening in order to minimise the risk of the child being affected by disease.
An assessment by a geneticist is also carried out at the prenatal stage. During pregnancy, advice is given on the appropriate genetic and other tests aimed at the diagnosis of congenital foetal disorders and the subsequent assessment of such disorders.