Q: My problem is that I am in love with a girl. She is related to me by blood (my maternal uncle's daughter). I am aware that marriage among blood relations is not advisable and there is a chance of defective future generation. But as we are commited to this, I would like to know the various medical problems I might face? Is there any mode of prevention for the same.
A:There is nothing wrong with a consanguinous marriage particularly if the consanguinity in the family/community has been practised for a long time. The only desirable thing is to have detailed family history on both the sides for a possible genetic disease and a proper antenatal follow up of the pregnancy. For detailed family history it would be advisable to consult a medical geneticist.
But if such a facility is not available at any medical consultant may be alright. We should look into the history of common clinical presentations of geneticdisorders which include multiple foetal and neonatal deaths, congenital malformations, mental retardation, severe short stature, fits, neurological defects including blindness, deafness etc severe anemia requiring blood transfusions in childhood, any familial disease where 2 or more siblings are affected with the same manifestations etc.
A complete family chart of 3 to 4 generations giving the ages of people, cause of death in case of dead individuals and number of children and their ages can be the starting point. It would also be advisable to screen the prospective couple for thalassemia carrier state. During pregnancy a very careful ultrasound will be advisable at 10-11 weeks of prgnancy, at 18-20 week of pregnancy and perhaps one at 28-32 weeks also.