Calculating posterior cystic fibrosis risk with echogenic bowel and one characterized cystic fibrosis mutation: avoiding pitfalls in the risk calculations.

Abstract excerpt

We describe a general approach to derive fetal risk following two separate test results that each raise the likelihood of the same fetal abnormality without clearly determining whether the abnormality exists. Echogenic bowel observed on fetal ultrasonography may have multiple causes, including an a priori risk of approximately 1% of cystic fibrosis (CF). On numerous occasions our laboratory tests have detected...

Topics

• Bayes Theorem
• Cystic Fibrosis
• Cystic Fibrosis Transmembrane Conductance Regulator
• Female
• Genetic Counseling
• Humans
• Intestines
• Mutation
• Pregnancy
• Risk Assessment
• Ultrasonography, Prenatal