Genetic Carrier Screening – Explained


As promised, each Thursday, we will now offer you a piece of educational, science, or research related information.  The purpose of our #ThursdayThoughts post is to share with you fact-based content that can enlighten and assist you on your fertility journey.  Enjoy our post! Helping to Create New Beginnings…

Genetic Carrier Screening- Explained

Genetic carrier screening is a test that is often offered to our patients during their initial fertility evaluation. This blood test checks to see if you are a carrier of certain genetic conditions which may impact your children. It is often done prior to pregnancy or during pregnancy. Some of the more common diseases that are tested for include SMA (Spinal muscular atrophy) and Cystic Fibrosis.

Most of the genetic conditions that are tested are recessive conditions. This means both the patient and their partner must test positive in order for there to be increase risk to the child. If they both test positive then there is a 1 in 4 chance of passing that particular disease onto their child. If only one partner is positive, the risk is substantially decreased.

This testing becomes useful before attempting pregnancy because through IVF with genetic testing, patients may be able to prevent the transmission of certain genetic conditions to their children.

Another reason this test can be useful is in a patient using donor sperm or eggs. Many of the donors will have this testing done. If the donor that a patient chooses has a “genetic flag” we can do the same test on the patient to make sure they do not carry the same gene. This will decrease the chance of passing on these diseases to any children.

For more information regarding evaluation and treatment options that are available, please schedule an appointment with one of our providers at the Fertility Institute of Hawaii 808-545-2800 or visit our website at

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