Huntington's chorea is a rare inherited nurodegenerative disease affecting the bases of DNA in the HTT gene of humans. It is inherited as an autosomal dominant form which has a 50% chance of being passed on to children if one parent carries a copy of the defective HD gene.HTT disease affects adults and it's prevalence in India between three to seven affected among 1 lakh people. The effect of the disease is such that the affected person usually dies within 15-20 years. Lack of awareness and no testing strategies increases the social burden. Prenatal diagnosis of HT disease becomes challenging when fetus is found to be affected and parents are left with only option of either termination or deliver a child with the struggling disease. At Argenomics, a renowned PGT Lab in Kerala and pioneers in dealing with monogene defects with greater success, we have developed first time in India haplotyping technology with our expertise to detect the HTT gene defect in embryo stage itself. After the in vitro fertilisation technique embryos obtained under toes PGTM (preimplantation genetic testing) to check the detective gene status. The present case was referred to us where mother had the HTT gene defect inherited from her father. The physical condition was not so favouring for her hence family decided that her own mother would be her surrogate. So embryos obtained from the patient herself (10 tested) were tested for the defective gene (3 embryos were found normal) and one single normal embryo in the first attempt gave rise to a healthy baby birth at our hospital. This case was challenging as developing a PCT m assay for rare disease was challenging. In conclusion treatment of such genetic diseases becomes challenging and this increases social burden. Hence employing high end technologies and expertise can help prevent genetic conditions to reoccur in family and make a healthy gene pool future generations and country.
Book Your Appointment @ Virtual OPD
Director & Sr.Consultant in Reproductive Medicine
MD(OBG), MRCOG(UK), MRCP(IE), FRM
Director, Reproductive Medicine Unit, ART Consultant
MD,DNB , MRCOG (UK)