Many genetic diseases happen because both parents carry a single small change (or mutation) in the same gene – it’s not usually a problem for either of them, but could be an issue if their new baby inherits two mutations (one from each of them). Some testing, called “genetic screening,” scans specific genes in someone for common mutations that are associated with certain genetic diseases. In most cases, if one parent carries a mutation in a tested gene, the other parent is offered genetic screening or testing (at least for that same gene). This helps provide the most complete and accurate picture when it comes to knowing a baby’s genetic health risks.
If you aren’t currently pregnant, you could start genetic screening with you and consider it for your partner after your results are back. If you are already pregnant, screening for both of you at the same time is the quickest way to get the most complete information back. Each has its pros and cons, but a genetic expert can help you go through your genetic screening or testing options and help you get it done.
Genetic experts are medical professionals trained to help you understand genetic testing and possible results you may learn. They are aware of a growing number of genetic tests and screens for people planning families. They can review your genetic testing options with you, help you decide if you want to proceed and work with you to make an action plan to take full advantage of what you learned with your doctor.