Linked Life Data

10051167

Source:http://linkedlifedata.com/resource/pubmed/id/10051167

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1999-5-7
pubmed:abstractText
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 only normal cystic fibrosis transmembrane regulator (CFTR) alleles in fetuses with echogenic bowel. This result indicates that another cause most likely explains the abnormal ultrasound finding. One of our tested fetuses was heterozygous for the deltaF508 CFTR mutation and had a normal karyotype. Over 770 CFTR mutations have been described, and a significant proportion of parental mutant alleles could not be detected by our 25-mutation test. Further mutation analysis demonstrated that the fetus' mother carried the deltaF508 mutation but the father (of different ethnic background than the mother) did not carry a detectable mutation. Thus, this test result substantially increased the risk of the fetus having CF, while still not giving a definitive answer to whether the fetus was affected. A rigorous mathematical analysis determined that the 1% risk of CF following ultrasound study was increased to slightly under 12% following DNA analysis. The case is described, and the mathematical formulas are explained and illustrated with examples, along with a review of conditional probability (Appendix 2).
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:day
12
pubmed:volume
82
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
329-35
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Calculating posterior cystic fibrosis risk with echogenic bowel and one characterized cystic fibrosis mutation: avoiding pitfalls in the risk calculations.
pubmed:affiliation
Department of Psychiatry, Columbia School of Physicians and Surgeons, New York State Psychiatric Institute, New York 10032, USA. seh2@columbia.edu
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports