Updates

Birth of a Healthy Baby Free from Huntington's Chorea

A milestone success first time in India and Second in world using the latest haplotyping technology.

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.

Genetic Counseling: Why it's necessary?

The need for Genetic Counselling in IVF!

This illustration shows a couple trying to plan a family but one of them happens to be carrier of a Genetic Disorder. What is the right way to plan your IVF and what happens if you don't avail a genetic counseling in such a case is also illustrated. If you've a history of genetic diseases in your family, it is important that you share it with your Consultant, so that the Geneticist can get in touch with you to find disease-free embryos inorder to get a healthy baby.

For more details: Call 0480-2800200 and ask a connection to Genetics.

ജനിക്കാനിരിക്കുന്ന പിഞ്ചോമനക്കു ജനിതക വൈകല്യങ്ങൾ ഉണ്ടാകുമോ? ഇപ്പോൾ അമ്മയുടെ രക്തത്തിൽ നിന്ന് തന്നെ 100% കണ്ടുപിടിക്കാം NIPT Test.

ഏകദേശം 10 -ആഴ്ച ഗർഭാവസ്ഥയിൽ അമ്മയുടെ 10 ml രക്തം ശേഖരിക്കുകയും, അതിൽ നിന്ന് ക്രാഫ്റ്റ് ജനറ്റിക്‌സ് ലാബിൽ കുഞ്ഞിന്റെ DNA-യുകൾ ടെസ്റ്റ് ചെയ്യുകയും ചെയുന്നു. സാധാരണ രീതിയിൽ ഗർഭസ്ഥശിശുവിന് ജനിതകവൈകല്യമുണ്ടോ എന്ന് അറിയുവാൻ ചെയ്യപ്പെടുന്ന biochemical ടെസ്റ്റുകൾ (double, triple, quadruple tests) പോലെ അല്ല NIPT. ക്രാഫ്റ്റ് ജനറ്റിക്‌സ് ലാബിൽ 23-pair chromosome-മുകളും ടെസ്റ്റ് ചെയ്യും. അതിനാൽ കുഞ്ഞിന് ജനിതക വൈകല്യമുണ്ടോ എന്ന് അമ്മയുടെ രക്തത്തിൽനിന്നുതന്നെ 100% കണ്ടുപിടിക്കാൻ സാധിക്കും. നിങ്ങളുടെ കുടുംബത്തിൽ ജനിതകവൈകല്യമുള്ള ആരെങ്കിലും ഉണ്ടെങ്കിലോ, ultrasound -സ്കാനിൽനിന്നും കുഞ്ഞിന് എന്തെങ്കിലും വൈകല്യങ്ങൾ നിങ്ങളുടെ Gynecologist കണ്ടുപിടിക്കുകയോ ചെയ്താൽ ഈ ടെസ്റ്റ് നിർബന്ധമായും ചെയ്യണം.