From its emergence, preimplantation genetic diagnosis (PGD) has been opposed by religious, feminist, and disability-rights advocates. PGD has developed, however, to extend beyond genetic diagnosis of embryos to diagnose chromosomal abnormalities. Evidence shows that PGD is safe, children born after in vitro fertilization (IVF) and PGD having no higher rate of birth defects than children of norm...

After Duchenne muscular dystrophy, spinal muscular atrophy (SMA) is the most common severe neuromuscular disease in childhood. Since 1995, homozygous deletions in exon 7 of the survival motor neuron (SMN) gene have been described in >90-95% of SMA patients. However, the presence of a highly homologous SMN copy gene complicates the detection of exon 7 deletions. This paper describes the adjustme...

The aim of this study was to perform preimplantation genetic diagnosis (PGD) for X-linked retinoschisis using multiple displacement amplification (MDA) for whole genome amplification and linked markers to the RS1 gene. The study evaluates the ability of MDA to amplify the whole genome directly from a single blastomere. MDA products were used for polymerase chain reaction analysis of two polymor...

The development of in vitro fertilization in the 1970s has revolutionized the treatment of infertility. In the US, 126 procedures are performed per million people each year. The ability to culture embryos in vitro has allowed the development of preimplantation genetic diagnosis (PGD). PGD is similar to the prenatal diagnosis used to screen for various genetic diseases before birth, but its adva...

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Marfan syndrome (MFS) is a systemic hereditable disorder of the connective tissue with mainly cardiovascular manifestations, such as aortic dilatation and dissection. We describe a case of a 32-year-old Caucasian woman, clinically asymptomatic with MFS who presented for genetic consultation to prevent the transmission of disease to her offspring. She underwent controlled ovarian stimulation (CO...

Enhancement of autonomous choice may be considered as an important reason for facilitating the use of genetic tests such as preimplantation genetic diagnosis. The principle of respect for autonomy is a crucial component not only of Western liberal traditions but also of Western bioethics. This is especially so in bioethical discussions and analyses of clinical encounters within medicine. On the...

It is quite likely that parents will soon be able to use genetic engineering to select the sex of their child by directly manipulating the sex of an embryo. Some might think that this method would be a more ethical method of sex selection than present technologies such as preimplantation genetic diagnosis (PGD) because, unlike PGD, it does not need to create and destroy "wrong gendered" embryos...

The aim of prenatal genetic diagnosis is to give parents the option of terminating affected pregnancies. For most X linked conditions specific diagnosis is not possible and the only option is induced abortion of all male fetuses, of which half would be unaffected. An altemative is offered by preimplantation diagnosis of sex in embryos obtained by in vitro fertilisation and selective transfer of...