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Updated: Mar 2, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Preimplantation genetic diagnosis for monogenic diseases
Vivian Chi Yan Lee1, Judy F C Chow2, William Shu Biu Yeung2
1Department of Obstetrics & Gynaecology, Queen Mary Hospital, Hong Kong, Hong Kong Special Administrative Region.
Abstract:
Preimplantation genetic diagnosis (PGD) was first reported in 1990. Thereafter, more and more indications for PGD, including monogenic diseases (MGD) and translocations, are presently available, and the list of indications of PGD is expanding from early-onset and serious conditions to late-onset diseases. Polymerase chain reaction has been used for PGD of MGD, while newer techniques, including karyomapping and next-generation sequencing, emerge in recent decade. The limitations of various methods for PGD are discussed in this review.
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