Comprehensive Carrier Screening
These findings were presented at the annual European Human Genetics Conference (ESHG) 2018
Comprehensive Carrier Screening using a combination of NGS panel, ddPCR and RPA
Carrier screening is a genetic test used to determine if a healthy person is a carrier of a recessive genetic disease. The goal of carrier screening is to help individuals understand their risks of having a child with a genetic disorder and review the range of options available to guide pregnancy and family planning.In order to provide a comprehensive screening panel, a set of 331 genes relevant for autosomal and X-linked recessive disorders was selected. The CentoScreen® test includes a NGS panel targeting the 331 genes (assessing CCDS +/-20 bases and relevant deep intronic mutations from HGMD® and Centogene’s proprietary variant database CentoMD®) and an in-house developed pipeline provides CNV calling on NGS data. Technically challenging but relevant risk genes (FMR1, SMN1, CYP21A2) are analyzed by additional assays based on ddPCR, RPA and Sanger.
- An individual is a carrier of ~2.8 pathogenic variants on average2
- Approximately 1 in 4 (24%) individuals are carriers for at least 1 disorder and 1 in 20 (5.2%) are carriers for multiple disorders3
- The American College of Obstetricians and Gynecology recommends offering carrier screening to all pregnant women or couples considering pregnancy1
- Early onset and high-severity disorders
- Well-defined phenotype
- High carrier frequency
- Availability of treatment
- Severe effect on quality of life
Case I: Family history and preconceptional testing
- Previous undiagnosed deceased child
- Child had no genetic testing
- Suspected diagnosis of CDG1a
- Couple worried about recurrence risk and other disorders
Available options for family planning:
- Prenatal diagnosis in CVS or AF sample possible
- Pre-implantation genetic diagnosis possible
- Using a sperm or egg donor
- Carrier testing for other family members at risk
Case II: No family history
