# Your Options After a High Risk Result

Your Options After a High-Risk Result

If both partners are identified as carriers of the same autosomal recessive genetic condition, or if the female partner carries an X-linked condition, the result is considered 'high-risk' — and it opens a specific set of options, not just one path forward.

One option is Preimplantation Genetic Testing for Monogenic Diseases, or PGT-M. PGT-M tests each embryo to identify which ones are expected to have the condition. Embryos that are not affected with condition of interest can then be chosen for transfer, giving those at high risk a path to a biological child while lowering the chance of having an affected child. PGT-M is one of several options after a high-risk result. A genetic counselor can discuss these options if you have high-risk carrier screening results.

Carrier screening is not diagnostic — it assesses risk rather than confirming a diagnosis. A negative result significantly lowers the chance of carrying a variant, but it cannot eliminate that possibility entirely. The remaining chance that a disease-causing variant exists but was not detected is called residual risk.

Residual risk is present in every carrier screening test. No panel tests for every possible condition or every possible variant. Results reflect only the specific conditions and variants included in that particular test. Carrier screening also does not cover chromosomal conditions such as Down syndrome, or multifactorial conditions such as autism or certain cancers, which involve a combination of genetic and non-genetic factors.

Because genetics is a rapidly evolving field, results from older testing may not reflect what current technology could detect. Anyone using prior results to inform a reproductive decision today should review them with a healthcare provider first.

Residual risk does not diminish the value of carrier screening. It remains one of the most effective tools for understanding inherited disease risk before pregnancy — and for making informed decisions based on that understanding. Your care team and genetic counselors are available to answer questions at any point.
