Bayesian risk assessment for autosomal recessive diseases: fetal echogenic bowel with one or no detectable CFTR mutation

Ogino, Shuji; Wilson, Robert B.; Grody, Wayne W.

doi:10.1136/jmg.2003.015065

Cited by 23 publications

(28 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Another common scenario requiring methods beyond those described in our previous report 5 is that of a pregnant woman with a negative ultrasound who does not undergo prenatal genetic testing. A typical case is as follows: a mother undergoes CF carrier screening and is found to be a carrier; the father tests negative for CFTR mutations, and the fetus subsequently undergoes ultrasound examination and is found to be negative for echogenic bowel.…”

mentioning

confidence: 99%

“…602421). 5 In genetics practice, however, there are other scenarios for which our previous methods are inadequate. Such scenarios are common, and generalizable methods for them are lacking.…”

mentioning

confidence: 99%

“…If the fetus were positive for echogenic bowel, testing for CFTR mutations would usually follow, and genetic risk can be calculated as we described previously. 5 The fraction of fetuses with a positive ultrasound examination, however, is small, even when two CFTR mutations are present. The probability that a fetus has an echogenic bowel if the fetus is affected with CF, is a carrier, or is a noncarrier is estimated to be Ϸ 0.11, 0.00089, or 0.00035, respectively (using the data by Scotet et al 6 ).…”

mentioning

confidence: 99%

“…The probability that a fetus has an echogenic bowel if the fetus is affected with CF, is a carrier, or is a noncarrier is estimated to be Ϸ 0.11, 0.00089, or 0.00035, respectively (using the data by Scotet et al 6 ). 5 Therefore, the probability that a fetus does not have echogenic bowel if the fetus is affected, a carrier, or a noncarrier is estimated to be 0.89 (ϭ 1 Ϫ 0.11), Ϸ1 (ϭ 1 Ϫ 0.00089), or Ϸ 1 (ϭ 1 Ϫ 0.00035), respectively. This means that a vast majority of pregnant CF carriers who undergo ultrasound examination will have negative results.…”

mentioning

confidence: 99%

“…219700)]. 5 Our methods are useful in the setting of CF carrier screening and prenatal testing for mutations of the CFTR gene (OMIM no. 602421).…”

mentioning

confidence: 99%

See 4 more Smart Citations

Bayesian analysis for cystic fibrosis risks in prenatal and carrier screening

Ogino

Wilson

Gold

et al. 2004

Genetics in Medicine

View full text Add to dashboard Cite

Purpose: Risk assessment is an essential component of genetic counseling and testing, and Bayesian analysis plays a central role in complex risk calculations. We previously developed generalizable Bayesian methods to calculate the autosomal recessive disease risk of a fetus when one or no mutation is detected, and another, independent risk factor is present. Our methods are particularly useful for calculating the CF disease risk for a fetus with echogenic bowel. In genetics practice, however, there are other scenarios for which our previous methods are inadequate. Methods and Results: We provide herein methods for calculating genetic risks in a variety of common clinical scenarios. These scenarios include the following: (1) different mutation panels that have been used for the parents and for a fetus; (2) genetic testing results available on the proband or other relatives, in addition to the consultand; (3) fetal ultrasound negative for echogenic bowel with a positive family history; and (4)

show abstract

mentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

“…219700)]. 5 Our methods are useful in the setting of CF carrier screening and prenatal testing for mutations of the CFTR gene (OMIM no. 602421).…”

mentioning

confidence: 99%