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 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.
Ludwig
M
M
Department of Gynecology and Obstetrics, Medical University of Lübeck, Germany. Ludwig_M@t-online.de
Geipel
A
A
Berg
C
C
Gembruch
U
U
Schwinger
E
E
Diedrich
K
K
D002869:Chromosome Aberrations; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004992:Ethics, Medical; D005260:Female; D006801:Humans; D007248:Infertility, Male / Q000235:genetics / Q000628:therapy; D008297:Male; D009154:Mutation; D009845:Oligospermia / Q000235:genetics; D019836:Preimplantation Diagnosis; D012307:Risk Factors; D020554:Sperm Injections, Intracytoplasmic; D014998:Y Chromosome
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator