Kuliev, Anver, and Yury Verlinsky. “Preimplantation diagnosis: a realistic option for assisted reproduction and genetic practice.” Current Opinion in Obstetrics and Gynecology 17.2 (2005): 179-183.
Purpose of review
Preimplantation genetic diagnosis (PGD) allows genetically
disadvantaged couples to reproduce, while avoiding the
birth of children with targeted genetic disorders. By
ensuring unaffected pregnancies, PGD circumvents the
possible need and therefore risks of pregnancy termination.
This review will describe the current progress of PGD for
Mendelian and chromosomal disorders and its impact on
reproductive medicine.
Recent findings
Indications for PGD have expanded beyond those used in
prenatal diagnosis, which has also resulted in improved
access to HLA-compatible stem-cell transplantation for
siblings through preimplantation HLA typing. More than
1000 apparently healthy, unaffected children have been
born after PGD, suggesting its accuracy, reliability and
safety. PGD is currently the only hope for carriers of
balanced translocations. It also appears to be of special
value for avoiding age-related aneuploidies in in-vitro
fertilization patients who have a particularly poor prognosis
for a successful pregnancy; the accumulated experience of
thousands of PGD cycles strongly suggests that PGD can
improve clinical outcome for such patients.
Summary
PGD would particularly benefit poor prognosis in-vitro
fertilization patients and other at-risk couples by improving
reproductive outcomes and avoiding the birth of affected
offspring.
Preimplantation genetic diagnosis (PGD) allows genetically
disadvantaged couples to reproduce, while avoiding the
birth of children with targeted genetic disorders. By
ensuring unaffected pregnancies, PGD circumvents the
possible need and therefore risks of pregnancy termination.
This review will describe the current progress of PGD for
Mendelian and chromosomal disorders and its impact on
reproductive medicine.
Recent findings
Indications for PGD have expanded beyond those used in
prenatal diagnosis, which has also resulted in improved
access to HLA-compatible stem-cell transplantation for
siblings through preimplantation HLA typing. More than
1000 apparently healthy, unaffected children have been
born after PGD, suggesting its accuracy, reliability and
safety. PGD is currently the only hope for carriers of
balanced translocations. It also appears to be of special
value for avoiding age-related aneuploidies in in-vitro
fertilization patients who have a particularly poor prognosis
for a successful pregnancy; the accumulated experience of
thousands of PGD cycles strongly suggests that PGD can
improve clinical outcome for such patients.
Summary
PGD would particularly benefit poor prognosis in-vitro
fertilization patients and other at-risk couples by improving
reproductive outcomes and avoiding the birth of affected
offspring.
Verlinsky, Yury, et al. “Over a decade of experience with preimplantation genetic diagnosis: a multicenter report.” Fertility and sterility 82.2 (2004): 292-294.
Harper, Joyce C., and Sioban B. SenGupta. “Preimplantation genetic diagnosis: state of the art 2011.” Human genetics 131.2 (2012): 175-186.
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