Genetic screening for cystic fibrosis.
The importance of the recent recommendations that address cystic fibrosis carrier screening cannot be overemphasized. For the first time, a systematic approach to offering or making screening available to all pregnant women in the hopes of providing refined risk estimates for a genetic disease has been established. Caucasian of European or Ashkenazi-Jewish descent should be offered screening. Within the proposed guidelines are ethnic-specific carrier frequencies (1/29) used to establish who should be offered testing and to whom testing should be made available. Recent recommendations have made clear that in a pan-ethnic population a frequency of 1/1,000 is required for inclusion into the cystic fibrosis mutation panel. A general framework for screening during pregnancy has been established (either concurrent or sequential). It will be interesting to watch as the fruits of the human genome project are inspected and applied to everyday clinical practice. No doubt the cost of screening will be reduced through advances in technology. The combined efforts of NIH, ACOG, and ACMG have provided the first set of comprehensive standards for screening of recessive diseases. How time changes these guidelines deserves following.
Gregg
Anthony R
AR
Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA. agregg@bcm.tmc.edu
Simpson
Joe Leigh
JL
D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing / Q000379:methods*; D006579:Heterozygote; D006801:Humans; D008967:Molecular Biology; D009154:Mutation; D010353:Patient Education as Topic; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D012680:Sensitivity and Specificity