Genetic Carrier Screening
Why?
This test uses your blood or saliva to determine if you are a carrier for any inherited genetic conditions, since even if you don’t have the disease, you could still pass on the gene
Includes diseases such as Tay-Sachs, cystic fibrosis, spinal muscular atrophy, fragile X syndrome, sickle cell anemia and many less common ones
For most of these diseases, it is only a risk for the baby if both parents are carriers (i.e. it is a recessive disorder), although there are a few conditions where only the mother needs to carry the mutation for the fetus to be at risk
This is a screening test, not a diagnostic test, meaning it can only tell you the chances that you will pass on a gene, not whether or not your baby will have a genetic disorder
If you have a family history of a certain disease or are part of an ethnic group that is at higher risk (e.g. Ashkenazi Jews are higher risk for Tay Sachs), it’s especially recommended that you undergo this carrier screening, and possibly additional specific testing for something like cancer-linked genes (e.g. BRCA - breast cancer)
When?
It’s best to get this screening done before you are pregnant - if it turns out there is a worrisome risk of a genetic issue, you may want to consider going the IVF route so that you can test and select for healthy embryos
There is still value in getting tested once you are already pregnant - if it turns out your baby is at higher risk for a genetic condition, you may want to consider further prenatal testing beyond the standard (i.e. CVS/Amnio, not just NIPT)
You could first just get tested yourself - if nothing comes up, no further testing is necessary; if you do show up as a carrier for something, your partner can then get tested. But if you don’t want to prolong the process (and potentially the anxiety), you could both just get tested from the get go.
This test only needs to be completed once in your lifetime (unlike the later prenatal tests, which you will undergo for each subsequent pregnancy)
How?
Your OB may already have test kits available or can order them for you
The two primary companies are Natera - Horizon & Myriad - Foresight
Both are in-network for most insurance companies, but you may still have to pay up to ~$200 out of pocket; definitely ask them for an estimate
Both the Natera Panel and the Myriad Panel cover the most serious and prevalent inherited conditions
Usually takes about 2 weeks or less to get the results back
