Journal
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY
Volume 44, Issue -, Pages 68-75Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.bpobgyn.2017.04.001
Keywords
preimplantation genetic diagnosis (PGD); monogenic diseases; polymerase chain reaction (PCR); next-generation sequencing (NGS)
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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. (C) 2017 Published by Elsevier Ltd.
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