Article
Assessment of the reliability of single blastomere analysis for preimplantation diagnosis of the delta F508 deletion causing cystic fibrosis in clinical practice.
Prenatal diagnosis - 1 Dec 1998
Ray P F, Ao A, Taylor D M, Winston R M, Handyside A H
Abstract excerpt
Following the birth of a baby girl confirmed to be homozygous normal for the delta F508 deletion causing cystic fibrosis (CF), many single-gene defects have been diagnosed by polymerase chain reaction (PCR) for preimplantation genetic diagnosis (PGD). A few misdiagnoses have been reported but no large-scale studies have been performed to assess the accuracy of diagnosis in a clinical setting. Here we focus on a...
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