【Medical Q&A】What is carrier screening?

Author: Sui Yilun Shanghai Ji'ai Genetics and Infertility Diagnosis and Treatment Center, Obstetrics and Gynecology Hospital, Fudan University

Reviewer: Fu Jing, Chief Physician, Shanghai Ji'ai Genetics and Infertility Diagnosis and Treatment Center, Obstetrics and Gynecology Hospital, Fudan University

Carrier screening refers to the use of economical, accurate and reliable methods to screen out phenotypically normal carriers in a group in order to prevent the occurrence of a certain genetic disease in the group when the disease has a high incidence rate in the group, and then conduct risk assessment and marriage and childbearing guidance for them. This includes carriers of autosomal and X-linked recessive disease genes, etc.

Carrier screening is suitable for all couples planning pregnancy, especially those who are willing to take the initiative to understand and reduce the risk of genetic diseases. Screening is also recommended for couples of childbearing age who have no phenotype or family history of genetic diseases to find out whether they carry genes for genetic diseases. The timing of screening can be chosen before pregnancy or in early pregnancy. Genetic counseling is an integral part of carrier screening. Through counseling, couples can have a more comprehensive understanding of the significance, process, possible results and their implications of screening. Professional genetic counseling can also provide detailed information about the disease, inheritance mode, offspring risk and follow-up recommendations.