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Strategies for preimplantation genetic diagnosis (PGD) have become increasingly complex. For single gene disorders it is now usual for several DNA fragments to be simultaneously amplified using multiplex-PCR. This allows redundant diagnostic loci to be analyzed, reducing the chance of misdiagnosis due to allele dropout (ADO). Additionally, hypervariable 'fingerprinting' loci can be amplified, revealing the presence of DNA contaminants. Chromosomal screening has also increased in complexity. Current FISH techniques investigate up to nine chromosomes per cell and are offered to an increasingly wide range of patients, including women of advanced reproductive age and those with a history of repeated spontaneous abortion. Technical limitations, which preclude a full assessment of all chromosomes using FISH, have encouraged the development alternative tests. These include nuclear conversion, comparative genomic hybridization (CGH) and the use of DNA microarray 'chip' technology. This paper discusses technical innovations that have improved the scope and accuracy of PGD, as well as the emergence of new indications for PGD that are sometimes considered controversial (e.g. HLA-typing).

Original publication




Conference paper

Publication Date



115 Suppl 1


S97 - 101


Blastocyst, Chromosome Aberrations, Female, Genetic Testing, Humans, Pregnancy, Preimplantation Diagnosis