A couple with a family history of thalassemia seeks premarital genetic counselling and advice about reproductive risks. Review the supplied family history, explain the inheritance pattern and reproductive risk, discuss relevant screening and perinatal diagnostic options, and counsel the couple using a respectful, non-directive approach.

Risk assessment: “I would review your family history, draw a pedigree and offer appropriate thalassemia carrier screening to both partners.”

Inheritance: “If both of you carry a pathogenic variant causing the same autosomal recessive form of thalassemia, each pregnancy has a 25% chance of an affected child, a 50% chance of a carrier child and a 25% chance of a child inheriting neither variant.”

Diagnosis: “We can discuss prenatal diagnostic options such as chorionic villus sampling or amniocentesis, with genetic testing directed at the familial variants.”

Counselling: “The choice is yours. I will explain the benefits, limitations and risks of testing, answer your questions and support your informed decision without pressure.”

1. Establish rapport: Introduce yourself, ensure privacy, obtain consent and ask what the couple already understands about thalassemia and genetic testing.
2. Take a focused family history: Ask about affected relatives, carrier status, previous affected children, pregnancy outcomes and consanguinity. Construct a three-generation pedigree where possible.
3. Interpret inheritance: Explain autosomal recessive transmission using a simple pedigree or Punnett square. Distinguish confirmed carrier status from risk based solely on family history.
4. Offer relevant screening: Discuss complete blood count, red-cell indices and hemoglobin analysis, with molecular testing when indicated to clarify the familial thalassemia variants.
5. Explain perinatal diagnosis: Distinguish screening from definitive diagnosis. Discuss chorionic villus sampling, usually at 11–13 weeks, and amniocentesis, generally from 15 weeks, with appropriate specialist genetic testing and procedure-related risks.
6. Discuss reproductive options: Explain available choices, including proceeding with pregnancy with or without prenatal diagnosis and specialist discussion of other reproductive options where available. Avoid directing the couple toward a particular decision.
7. Close professionally: Check understanding, address emotional or cultural concerns respectfully, maintain confidentiality and offer referral for specialist genetic counselling and follow-up.

Exam Pearl: A 25% recurrence risk applies to each pregnancy when both parents are confirmed carriers of the relevant autosomal recessive condition. The risk does not change because of the outcome of a previous pregnancy.

Important Counselling Point: Prenatal screening estimates risk; diagnostic testing can establish whether the fetus has inherited the relevant familial variants. Invasive diagnostic procedures require informed consent and discussion of procedural risks.