BetaPlus Fertility takes a proactive approach with preconception carrier screening. We
believe knowledge is power, so we recommend preconception carrier screening to
every couple who wants to start a family. This type of genetic screening can help
hopeful parents determine if either partner carries a genetic disorder that could be
passed to the couple’s children.
If one or more parent is a carrier of an inheritable genetic disorder, our fertility doctors
offer treatments that can help them avoid passing the disorder to their children.
Preconception Carrier Screening Can Determine if Either Parent Carries a Genetic
Disorder
All our couples and single women hope to have a healthy baby. It can be shocking
when a baby with a genetic disorder is born to parents who appear to be healthy. In this
situation, the parents are asymptomatic carriers.
Most genetic disorders are autosomal recessive, which means that if both parents are
carriers, there is a 25 percent chance their child will have the disorder and a 50 percent
chance their child will be a carrier.
Because asymptomatic carriers do not show symptoms, preconception carrier
screening is necessary to determine whether either parent carries an inheritable
disorder that could be passed to their future children. This holds true for donor assisted
IVF as well. Without testing, parents may have no idea that they are at risk of passing a
genetic disorder to their children.
A Look at the Process of Preconception Carrier Screening
A clinical geneticists will recommend that all hopeful parents receive preconception
carrier screening before trying to conceive. Each patient only needs to provide a blood
sample, which will be screened for all indicated autosomal recessive disorders.
If testing indicates that hopeful parents carry an abnormal gene, they can still have a
healthy baby with help from in vitro fertilization (IVF) and preimplantation genetic
diagnosis (PGD). If you are using a donor, the donor must be checked for the same
type of mutation.
Between the steps of fertilization in the IVF lab and embryo transfer, our reference
genetics lab combines a genetic probe with a few cells from the embryos. This allows
the laboratory to determine which embryos are healthy, which are affected by the
genetic disorder, and which embryos are carriers.
Only unaffected healthy embryos are transferred to ensure that hopeful parents have
the best chance of developing a successful pregnancy and delivering a healthy baby.
If you have any questions before consulting a clinical geneticist, you can contact us to
learn more about preconception carrier screening.