What if both partners are carriers?
If you both carry a change in the same gene for a recessive condition, each pregnancy has a one in four chance of being affected, a two in four chance of being an unaffected carrier, and a one in four chance of being neither. Those odds apply independently to every pregnancy. Having one affected child does not mean the next three will be unaffected โ this is a common and painful misunderstanding. Your options, and you should be given all of them: Conceive naturally and have prenatal diagnosis by CVS or amniocentesis to test the pregnancy. IVF with PGT-M, testing embryos before transfer so an unaffected embryo is chosen. Donor egg or donor sperm from someone who is not a carrier. Adoption. Conceive without testing, accepting the risk. Choose not to have children. None of these is the obvious answer. Which fits depends on the severity of the condition, your feelings about pregnancy termination, cost and access to IVF, and your own values. Before deciding, ask a genetic counsellor for a detailed picture of the specific condition โ including how variable it is, what treatment exists now, and what living with it actually involves. Descriptions in test reports are often bleaker than current reality, particularly for conditions where treatment has improved. Also worth knowing: your siblings and other relatives may carry the same change and would want the opportunity to find out before their own pregnancies. Take time. There is rarely urgency unless you are already pregnant.
Sources
- ACOG Committee Opinion 690 / ACMG position statement โ carrier screening
Review by Fertility Connect Medical Team Pending
This information is general and does not replace advice from your own clinician.