About this condition
Carrier Screening — Comprehensive Genetic
Carrier screening identifies individuals who carry one copy of a recessive disease gene. Carriers are typically healthy — but if both partners are carriers for the same condition, each pregnancy has a 25% chance of an affected child. Approximately 80% of children born with recessive conditions have NO family history — the carrier status was unknown in both parents. Standard expanded carrier screening panels test 150-300 conditions. WGS evaluates ALL known recessive genes.
Common conditions identified through carrier screening include: cystic fibrosis (CFTR — 1 in 25 Northern European carrier frequency), spinal muscular atrophy (SMN1 — 1 in 50), sickle cell disease (HBB — 1 in 12 African American), Tay-Sachs disease (HEXA — 1 in 30 Ashkenazi Jewish), fragile X syndrome (FMR1), phenylketonuria (PAH — 1 in 50), and hundreds of rarer conditions with significant morbidity.
The American College of Obstetricians and Gynecologists (ACOG) recommends offering carrier screening to ALL patients who are pregnant or considering pregnancy, regardless of ethnicity. Expanded carrier screening identifies at-risk couples before conception, enabling informed reproductive decisions including: preimplantation genetic testing (PGT) with IVF, prenatal diagnosis, donor gametes, or enhanced newborn preparedness.
80% of children with recessive genetic conditions are born to parents with NO family history. The only way to identify carrier risk before conception is through carrier screening. One in four couples is at risk.
- Gene locus
- CFTR (7q31.2), SMN1 (5q13.2), HBB (11p15.4), HEXA (15q23), FMR1 (Xq27.3), PAH (12q23.2), and all recessive disease genes
