NEET PG High-Yield: Genetic Counselling
Genetic counselling is a communication process that deals with the human problems associated with the occurrence or the risk of occurrence of a genetic disorder in a family.
Key Steps in the Counselling Process
- Diagnosis: Establishing an accurate diagnosis is the essential first step.
- Risk Estimation: Calculating recurrence risks based on Mendelian laws or empirical data.
- Communication: Explaining the nature of the disease, prognosis, and recurrence risks clearly to the family.
- Discussion of Options: Providing information on available choices (e.g., prenatal diagnosis, reproductive alternatives, adoption).
- Long-term Support: Providing psychological support and follow-up guidance.
Indications for Referral
| Category | Reason |
|---|---|
| Advanced Maternal Age | Increased risk of chromosomal aneuploidies (e.g., Down syndrome). |
| Family History | Known hereditary condition or recurring miscarriages. |
| Consanguinity | Higher risk for autosomal recessive conditions. |
High-Yield NEET PG Pearls:
- Non-Directive Approach: The counsellor should provide information and support, but the ultimate decision-making power rests with the family.
- Autosomal Recessive Risk: For two carriers of an autosomal recessive trait, the recurrence risk per pregnancy is **25%**.
- Prenatal Diagnosis Methods: Amniocentesis (15–18 weeks) and Chorionic Villus Sampling (CVS, 10–12 weeks) are the standard techniques.