Preconception Genetic Screening
Carrier screening is defined as testing performed on individuals to assess whether they carry one allele for a genetic condition for which they do not have the phenotype. This chapter reviews specific genetic conditions for which carrier screening is most commonly offered. It also reviews the clinical significance, cause, and screening recommendations for each condition. Cystic fibrosis is a progressive disease that has severe effects on the pulmonary, pancreatic, hepatic, and gastrointestinal systems. Screening for cystic fibrosis should be offered to all women who are considering pregnancy or are currently pregnant. Spinal muscular atrophy is a disease that results in diffuse and progressive muscle atrophy. Its effects range widely from onset of severe muscle weakness in infancy and early death from respiratory failure to mild muscle weakness in adults with otherwise normal survival. Hemoglobinopathies can be divided into sickle cell disorders and thalassemias.
