Preimplantation genetic diagnosis for monogenic diseases

Best Practice & Research. Clinical Obstetrics & Gynaecology
Vivian Chi Yan LeePak Chung Ho

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.

Citations

Mar 28, 2018·Expert Review of Respiratory Medicine·Anne BergougnouxCaroline Raynal
Jun 24, 2020·Molecular Genetics & Genomic Medicine·Yanping XiXiaoxi Sun
Jun 5, 2019·Nature Medicine·Don P WolfShoukhrat M Mitalipov
Jul 6, 2020·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Dana Brabbing-Goldstein, Shay Ben-Shachar

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