Patients who are planning to conceive in the
future
If you are a carrier for a specific recessive condition, your partner may want to
have carrier screening for the condition ordered by a healthcare professional.
Your doctor or a local genetic counselor can help decide which carrier screen is
best for your partner. If your partner screens positive for the same condition
that you are a carrier for, different reproductive options can be considered.
If you are a carrier for an X-linked condition, you may want to speak with your
doctor or a genetic counselor about your Horizon test results. Partner screening
is not often recommended as a next step if you are a carrier for an X-linked
condition as only the mother needs to be a carrier for the condition to pass it
along to her child.
For many couples, knowing their carrier status before their baby is conceived
enables them to make informed reproductive decisions that can impact their
child’s future. Couples at risk for having a baby with a recessive or an
X-linked condition have the opportunity to consider:
- Natural pregnancy with or without prenatal diagnosis such as chorionic
villus sampling (CVS) or amniocentesis
- Other reproductive options such as: preimplantation genetic testing (PGT)
with in vitro fertilization (IVF) to test and then transfer embryos free of
the disease that both partners carry, use of a sperm or egg donor, or
adoption
Pregnant patients
If you are a carrier for a specific recessive condition, your partner may want to
have carrier screening for the condition ordered by a healthcare professional.
Your doctor or a local genetic counselor can help decide which carrier test is
best for your partner.
If you are a carrier for an X-linked condition, partner screening is not often
recommended as a next step as only the mother needs to be a carrier for the
condition to pass it along to her child.
Carrier screening during pregnancy can have life-altering benefits: It can help
couples decide on prenatal diagnostic testing such as chorionic villus sampling
(CVS) or amniocentesis, and if necessary, help them prepare emotionally,
medically, and financially for a baby with a genetic condition.