Читать книгу Protocols for High-Risk Pregnancies - Группа авторов - Страница 107

Screening for cystic fibrosis should be offered to all women who are considering pregnancy or are currently pregnant. The sensitivity of screening varies significantly among individuals of different races and ethnicities given the variable carrier rate of different mutations. Detection rates range from 49% to 94% depending on the population being screened. Individuals should be counseled that a negative screen cannot completely rule out carrier status. The American College of Medical Genetics and Genomics (ACMG) recommends use of a panel that screens for the most common 23 or greater CFTR mutations. Expanded panels may minimally improve detection rate of carriers, particularly among those of Caucasian backgrounds. Additionally, CFTR sequencing may be useful for individuals with a family history of cystic fibrosis who have negative screening panels, although it is not recommended for routine carrier screening because variants of uncertain significance may be discovered and thus preclude practitioners’ ability to provide meaningful counseling.