Premarital Genetic Investigations: An Attempt To Reduce Genetic Disorders

Document Type : Original Article

Authors

Human Genetics Department, Medical Research Institute, Alexandria University, Egypt

Abstract

Genetic disorders represent a major health problem in the world. Major efforts directed towards lightening the burden of these disorders on patients, family, future generations and on the community at large. A total of 194 couples (future husbands and wives] were referred to the outpatient genetic clinic, Medical Research Institute, University of Alexandria for premarital genetic investigations. About 64.6 % had a family history of various genetic disorders. Consanguinity was found among 85.6 % of couples. Abnormal result of premarital investigations was found in 17% of couples. Twenty six couples were at risk of having abnormal outcome due to a disorder in one or both partners. These included 7 with chromosomal abnormalities [ two mosaic Turner syndrome, one Klinefelter syndrome, one pericentric inversion of chromosome 9, one balanced translocation carrier, one fragile X carrier and one had chromosomal breaks], 5 couples had B- thalassemia minor, one had sickle cell / B thalassemia, one had hemophilia, 3 female partners had diabetes mellitus, 2 female partners were Rh -ve, 2 male partners had epilepsy, 1 female had breast cancer, 1 male had syphilis, 1 female had toxoplasmosis, 1 male had hepatitis C virus and 1 male with familial hypercholesterolemia. Premarital genetic investigations are important tools in the detection of genetic diseases as well as the reduction of their incidence.

Keywords

Files

Share

How to cite

Statistics