Exome-based preconception carrier testing for consanguineous couples in China

Area of Science:

• Genetics
• Reproductive Medicine
• Genomic Medicine

Background:

• Consanguineous unions increase the risk of autosomal recessive (AR) disorders due to shared genetic heritage.
• Preconception carrier screening is crucial for identifying at-risk couples and enabling informed reproductive decisions.

Purpose of the Study:

• To assess the clinical utility of exome sequencing (ES)-based carrier screening in Chinese consanguineous couples.
• To determine the effectiveness of ES in identifying couples at risk for AR disorders prior to conception.

Main Methods:

• Clinical exome sequencing (ES) was performed on 14 Chinese consanguineous couples.
• The screening targeted 5000 genes associated with human diseases to detect autosomal recessive (AR) disorders.

Main Results:

• Five couples were identified as being at risk for AR disorders.
• In four couples, both partners carried the same pathogenic variant.
• In one couple, partners carried different variants within the same gene, indicating a risk.

Conclusions:

• Exome sequencing (ES)-based preconception screening demonstrates significant clinical value for Chinese consanguineous couples.
• ES is effective in detecting at-risk couples for rare autosomal recessive (AR) diseases, facilitating genetic counseling and family planning.