Current status of preimplantation diagnosis

Verlinsky, Yury; Munné, Santiago; Simpson, Joe Leigh; Kuliev, Anver; Ao, Asangla; Ray, Pierre F.; Sermon, Karen; Martín, Ricardo Navarro; Strom, Charles M.; Stairteghem, A. Van; Veiga, Anna; Drury, K.C.; Williams, S.; Ginsberg, Norman; Wilton, Leeanda

doi:10.1007/bf02765773

Cited by 26 publications

(8 citation statements)

References 15 publications

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“…140 Organizing a similar scheme for PGD is essential but represents an enormous challenge which may ultimately only be met under the auspices of such organizations as the ESHRE PGD consortium 1,16 or the International Working Group on Preimplantation Genetics. 141 …”

Section: Quality Control and Quality Assurance For Single Cell Pcrmentioning

confidence: 99%

Molecular Diagnostics in Preimplantation Genetic Diagnosis

Thornhill

Snow

2002

The Journal of Molecular Diagnostics

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Section: Quality Control and Quality Assurance For Single Cell Pcrmentioning

confidence: 99%

Molecular Diagnostics in Preimplantation Genetic Diagnosis

Thornhill

Snow

2002

The Journal of Molecular Diagnostics

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“…The rate of allelic dropout can be as high as 33% but is reduced to less than 5% with fluorescent PCR 280 or dual amplification for a polymorphism closely linked to ∆F508. 281 In addition to CF carriers, compound heterozygotes carrying a mutation other than ∆F508 may also be misdiagnosed due to allelic dropout. 282 Research is currently being conducted into the possibility of testing for four mutations in single cells.…”

Section: Genetic Diagnosismentioning

confidence: 99%

Screening for cystic fibrosis.

Murray¹,

Cuckle²,

Taylor³

et al. 1999

Health Technology Assessment

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“…Only the unaffected embryos are replaced into the uterus, therefore avoiding the risks associated with affected pregnancies and with artificial abortion. This technique offers a reproductive choice to families who find termination of pregnancy unacceptable, or who have already had several terminations after prenatal diagnosis [1][2][3][4][5]. The first PGD was polymerase chain reaction (PCR) based-gender determination for X-linked disorders and this led to the birth of several normal girls [6].…”

Section: Preimplantation Genetic Diagnosis (Pgd) Is a Newmentioning

confidence: 99%

“…The first PGD for a single gene disorder was done for couples at risk of transmitting cystic fibrosis (cystic fibrosis ∆F-508 mutation) [7]. A similar approach is po ssible f or Ta y-S acks disea s e, Lesch -N yhan syndrome, hemophilia A, α-1-antitrypsin deficiency, and retinitis pigmentosa and an unaffected child has been born [1][2][3].…”

Section: Preimplantation Genetic Diagnosis (Pgd) Is a Newmentioning

confidence: 99%