Medical Genetics
Medical Genetics is one of the most recent offshoots of medicine which primarily deals with uncommon and rare disorders that may be associated with an underlying defect in our genetic makeup aka DNA. We often call them inherited disorders or refer to them as ‘hereditary conditions. However, it is only in some cases where these disorders tend to run into the families as recurring health conditions.
Most (70%) such disorders usually become apparent in the patient during their childhood, either due to a chance event or when both the parents are carriers of similar abnormal DNA changes without being affected themselves – due to the presence of some normal DNA along with the abnormal one. Genetic speciality deals with identifying, diagnosing, and managing such disorders.
Together, these disorders have a frequency of 1 in every 17 individuals. There is an average delay of 3-8 years in their diagnosis, owing to a lack of complete awareness among the physicians for such disorders. Management of the health condition gets delayed and subsequently, the diagnostic odyssey leads to stress, anxiety and largely avoidable expenditures.
All genetic disorders are not fully treatable, but many are manageable if diagnosed early. The most relevant aspect is that they can be prevented in a subsequent pregnancy. Nowadays, many couples are also opting to determine any DNA abnormalities in themselves, to ascertain if there is a possibility of any major genetic disease in a prospective child, and to figure out how it can be prevented.
Genetic services offered:
- Genetic screening and testing of couples with a high-risk pregnancy- history of > 2 early pregnancy losses, second-trimester pregnancy loss, stillbirth, previous early but unexplained child death, undiagnosed serious childhood illness, > 2 intrauterine deaths, malformations in previous or present pregnancy, unexplained infertility for both males and females
- Genetic screening for apparently healthy couples, for common and rare genetic conditions – Couple carrier screening
- Pretest and post-test counselling and evaluation for couples undergoing preimplantation genetic testing during IVF.
- Prenatal genetic consultation for couples who have an underlying genetic disorder running in the family.
- Expanded Newborn screening.
- Evaluation and management of a newborn with multiple malformations, growth abnormalities (short stature/overgrowth), developmental delay, or unrelated multiple body systems affected (eg. Limbs and kidney)
81% Patient Satisfaction Score
