Preimplantation diagnosis of genetic and chromosomal disorders

Dual blastomere analysis improves reliability of preimplantation trembler mouse diagnosis

“…The likelihood of misdiagnosis is substantially greater for at-risk autosomal recessive compound heterozygotes because failure to amplify either abnormal allele at independently amplified gene regions will be masked by amplification of the normal allele on the homologous chromosome. Thus preimplantation misdiagnoses have been reported in 2 of 11 (18.2%) pregnancies at risk for compound heterozygous recessive genetic disease (Verlinsky et al 1994). The many mutant alleles that cause most autosomal recessive genetic diseases, including cystic fibrosis, generally result in at least half of all affected fetuses being compound heterozygotes.…”

Preimplantation Diagnosis of Duchenne Muscular Dystrophy

“…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].…”

“…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].…”

“…The first approach is gender determination of embryos by either PCR or a fluorescence in situ hybridization (FISH)-based method [1,[3][4][5]. The second approach is diagnosis of specific gene mutation, which is attempted by a PCR-based method [14,35,36].…”

Accurate Multiplex Polymerase Chain Reaction Assay for Gender Determination from a Single Cell

“…Embryos are obtained through in vitro fertilization, and their disease status is determined by DNA analysis of 1 or 2 blastomeres biopsied from 6-to 8-cell embryos. Only the unaffected embryos are placed in the uterus, thereby avoiding the risks associated with affected pregnancies [1,2]. Recently, prenatal diagnosis using fetal cells isolated from maternal blood has been reported to be an alternative technique to conventional invasive methods.…”