Is Intracytoplasmic Sperm Injection Itself an Indication to Perform Preimplantation Genetic Diagnosis (PGD)?

Abstract

Intracytoplasmic sperm injection (ICSI) provides the only sufficient treatment to overcome severe forms of male infertility. However, male infertility is linked to several genetic problems as an increased number of chromosomal aberrations, cystic fibrosis transmembrane conductance regulator gene mutations, Y-chromosome microdeletions, and androgen receptor mutations. Therefore, these couples are at a higher risk of transmitting genetic problems to 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 counsel those couples to undergo invasive prenatal diagnosis in order to exclude chromosome abnormalities, especially gonosomal aberrations. In this paper the genetic risks of these couples and the possible implications of ICSI itself 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 diagnosis in these couples seems to be ‘genetic sonography’, i.e. high-resolution ultrasound with measurement of nuchal translucency at the end of the first trimester, and detailed fetal evaluation at 18–22 weeks of gestation.

Le screening des embryons par diagnostic préimplantatoire avant transfert intra-utérin a un intérêt

“…Cette approche permet d'augmenter les taux de grossesse dans les groupes de patientes avec un âge maternel élevé ou dans le cas d'anomalies morphologiques des gamètes [24][25][26].…”

In vitro fertilization/intracytoplasmic sperm injection for male infertility

“…high-resolution ultrasound with measurement of nuchal translucency at the end of the first trimester, and detailed fetal evaluation at 18-22 weeks of gestation may be used as an alternative to invasive prenatal diagnosis for chromosome abnormalities to overcome the potentially associated ethical problems. [93]…”

Utilidad y necesidad del andrólogo en las unidades de reproducción asistida

“…-Valorar la posible existencia de una alteración genética, cuya incidencia es muy elevada en este grupo de pacientes [47][48][49][50][51] .…”