Risks of fetal cystic fibrosis based on linkage disequilibrium data

First-trimester prenatal diagnosis of cystic fibrosis depends on tissues being available from a previous affected child for determination of the phase relationship of DNA markers. If no such tissues are available, it is possible to estimate the risks of a couple producing an affected child from the distribution of haplotypes showing linkage disequilibrium with the cystic fibrosis gene. We have calculated all the fetal risk subsets from the various parental haplotype combinations for the restriction fragment length polymorphisms identified by the KM.19/PstI and XV-2c/TaqI systems. We conclude that only in a limited number of parental combinations are the fetal risks sufficiently high or sufficiently low to be used in prenatal diagnosis.