Is intracytoplasmic sperm injection itself an indication to perform preimplantation genetic diagnosis (PGD)? About PGD, invasive prenatal diagnosis and genetic sonography

Intracytoplasmic sperm injection (ICSI) provides the only sufficient treatm ent to overcome severe forms of male infertility, However, male infertility is linked to several genetic problems as an increased number of chromosoma l aberrations, cystic fibrosis transmembrane conductance regulator gene mut ations, Y-chromosome microdeletions, and androgen receptor mutations. There fore, these couples are at a higher risk of transmitting genetic problems t o their offspring compared to the general population. A proposed increased number of gonosomal aberrations in the offspring possibly results from the ICSI technique itself. This led in general to a worldwide agreement to coun sel those couples to undergo invasive prenatal diagnosis in order to exclud e chromosome abnormalities, especially gonosomal aberrations. In this paper the genetic risks of these couples and the possible implications of ICSI i tself are discussed. Preimplantation genetic diagnosis may be considered a procedure of choice in these cases, but substantial ethical problems arise when such a screening is sought. An alternative procedure of prenatal diagn osis in these couples seems to be 'genetic sonography', i.e. high-resolutio n ultrasound with measurement of nuchal translucency at the end of the firs t trimester, and detailed fetal evaluation at 18-22 weeks of gestation. Cop yright (C) 2001 S. Karger AG, Basel.