This is one of a series of news items from abstracts of studies presented at the Annual Meeting of the American Society for Reproductive Medicine as complied by Dr. David Meldrum, Scientific Director of Reproductive Partners. We appreciate the enormous amount of work it takes to compile and comment on these abstracts.
The occurrence of a serious genetic disease in a child from mutated genes carried by both parents can be a disaster for the child, the family and society.
Fortunately, technology that can detect mutated genes that cause many genetic diseases is advancing rapidly as show in a study reported at ASRM 2012.
A microarray platform that screens for 1415 mutations associated to 221 genetic disorders was validated using over 800 abnormal samples with 100% accuracy. These genetic screening tests that can currently be performed with a single blood sample will continue to develop to the point where the most common disorders can be identified, allowing for preventive strategies avoiding births of affected offspring, the effects of the disease on the child and family and very large savings for the health care system and society in general.
We encourage our patients and everyone who is considering getting pregnant to take advantage of this test before conceiving. If both parents test positive for a disease, the affected offspring can be detected before implantation through IVF with preimplantation genetic diagnosis (PD).