First-trimester prenatal diagnosis of cystic fibrosis using fibroblasts from a deceased index child to establish haplotypes |
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Authors: | Ann Curtis Lisa Strain Moira Mennie Susan Holloway J. A. Raeburn G. T. N. Besley D. J. H. Brock |
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Affiliation: | 1. Human Genetics Unit, University of Edinburgh, Western General Hospital Edinburgh EH4 2XU, U.K.;2. Department of Pathology, Royal Hospital for Sick Children Edinburgh EH9 1LF. U.K. |
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Abstract: | First-trimester prenatal diagnosis of cystic fibrosis (CF) using linked DNA markers is usually only possible if there is an index affected child to establish the haplotype of the parental chromosomes. We describe a prenatal diagnosis where fibroblasts, cultured from the skin of a deceased affected child and then held in frozen storage for 3 years, were used as the starting point for tracking the CF gene. The fetus was diagnosed as a homozygous normal and the diagnosis confirmed by immunoreactive trypsin testing after birth. It was also possible to establish heterozygosity in the aunt of the affected child. |
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Keywords: | Cystic fibrosis Prenatal diagnosis Haplotype Cultured fibroblasts |
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