Preimplantation genetic diagnosis of X-linked retinoschisis using multiple displacement amplification (MDA)

Morales, Ruth; Lledó, Belén; Ortíz, J A; Guerrero, Jaime; Llácer, J.; Bernabéu, Rafael

doi:10.1016/j.fertnstert.2007.07.794

Cited by 2 publications

(2 citation statements)

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“…Traditionally, groups with indications for such interventions have included those with high risk of having children with genetic disease who have opted to terminate pregnancies based on prenatal tests, have had recurrent miscarriages, have objections to abortion, and/or who have concurrent infertility and those who are being treated with in-vitro fertilization (IVF) and in whom low rate of success with this method can be attributed to chromosomal aneuploidies in the embryos 8. The uses of this technology have expanded, and reports of its successful use in cases of retinoblastoma and X-linked retinoschisis have been published 9,10…”

Section: Introductionmentioning

confidence: 99%

Preimplantation Genetic Diagnosis for Stargardt Disease

Sohrab

Allikmets

Guarnaccia

et al. 2010

American Journal of Ophthalmology

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Purpose To report the first use of in vitro fertilization (IVF) and preimplantation genetic diagnosis to achieve an unaffected pregnancy in an autosomal-recessive retinal dystrophy. Design Case report. Methods An affected male with Stargardt disease and his carrier wife underwent IVF. Embryos obtained by intracytoplasmic sperm injection underwent single-cell DNA testing via polymerase chain reaction and restriction enzyme analysis to detect the presence of ABCA4 mutant alleles. Embryos were diagnosed as being either affected by or carriers for Stargardt disease. A single carrier embryo was implanted. Results Chorionic villus sampling performed during the first trimester verified that the fetus possessed only one mutant paternal allele and one normal maternal allele, thus making her an unaffected carrier of the disease. A healthy, live-born female was delivered. Conclusion IVF and preimplantation genetic diagnosis can assist couples with an affected spouse and a carrier spouse with recessive retinal dystrophies to have an unaffected child.

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Section: Introductionmentioning

confidence: 99%

Preimplantation Genetic Diagnosis for Stargardt Disease

Sohrab

Allikmets

Guarnaccia

et al. 2010

American Journal of Ophthalmology

View full text Add to dashboard Cite

show abstract

“…A few clinical applications of MDA resulting in pregnancies in PGD cycles have been reported, such as for X-linked retinoschisis (8), Marfan syndrome (9), Duchenne muscular dystrophy (10), fragile X syndrome (11), cystic fibrosis, and b-thalassemia (12). This is the first report on PGD for HD using whole genome amplification.…”

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confidence: 99%