A Pan-ethnic approach to carrier screening: 21 inherited disorders, 20 recessive and Fragile X syndrome
- Most individuals carry alterations in genes.
- Children are born with inherited conditions, even when these conditions don’t run in their family.
- This occurs because each parent without the disease carries only one abnormal copy of a gene for the same inherited condition, and their child inherits both abnormal copies of a gene from each parent. This is called recessive inheritance. If both parents are carriers, there is a 25% chance (1 in 4) they will have a child with a recessive condition.
- Our panel tests for recessive mutations for common genetic conditions found in diverse populations.
Screening consistent with American Congress of Obstetrics and Gynecology (ACOG) and American College of Medical Genetics and Genomics (ACMG)
- Offer all women considering or currently pregnant Spinal Muscular Atrophy (SMA) and Cystic Fibrosis (CF) Carrier Screening.
- Population Diversity, strategy: pan-ethnic/expanded carrier screening.
- Consistent with a standard/consistent approach to screening to be applied to all patients.
- If found to be a carrier, test spouse/partner.
Carrier screening benefits
- Better manage pregnancy
- Plan for medical intervention/treatment at birth
- Informed decision making
- Risk for disorder in future pregnancies