Carrier Screening Test for preconception couples to reduce reproductive genetic risk in IVF

How many genetic diseases have been discovered?

According to the statistical information from the Online Mendelian Inheritance in Man (OMIM) database, as of July 2023, more than 6,000 types of single-gene inherited diseases and traits have been identified. These diseases are caused by gene mutations or genetic abnormalities, with data indicating that up to 4,484 genes are associated with these hereditary conditions.

Currently, it is known that approximately 82% of people carry at least one genetic mutation for a hereditary disease, and about 5% of couples have identified variations in the same gene, increasing the chances of having affected offspring. Therefore, the application of carrier screening for genetic diseases becomes significant in both preconception genetic testing of IVF and the general population.
 

What is Carrier Screening?

In the classification of single gene diseases, they can be categorized as dominant or recessive, depending on the inheritance pattern. Carriers of recessive genetic diseases typically do not show symptoms or have a family history of the condition, making it difficult to detect or track. In most cases, it is only after having children with the disease that both parents are found to carry variations in the same recessive disease gene.

Carrier screening for genetic diseases refers to the screening of asymptomatic individuals without a family history of the disease to identify potential carriers of certain genetic variations. This testing can determine whether individuals carry specific gene mutations, thereby reducing the risk of passing on certain hereditary diseases to their offspring.



 

Who should have carrier screening?

Three conditions are suggested to detect carrier screening:

• Couple: For any couple that wants to form a family, it is important to know the risk of transmitting hereditary disorders to their children
• Assisted reproduction technology: Before an assisted reproduction treatment
• Donor: Before a treatment with donor sperm or eggs

 

Pros and Cons of carrier genetic testing

 

Counseling on Genetic Disorders

Lee Women’s Hospital provides counseling on genetic disorders diagnosed in a targeted screening and carrier screening.