Official websites use. Share sensitive information only on official, secure websites. In routine Assisted Reproductive Technology ART men with severe oligozoospermia or azoospermia should be informed about the risk of de novo congenital or chromosomal abnormalities in ICSI program.
Also the benefits of preimplantation or prenatal genetic diagnosis practice need to be explained to the couple. From a routine ICSI attempt, using ejaculated sperm from male with severe oligozoospermia and having normal karyotype, a 30 years old pregnant woman was referred to prenatal diagnosis in the 17 th week for bichorionic biamniotic twin gestation.
Amniocentesis was performed because of the detection of an increased foetal nuchal translucency for one of the fetus by the sonographic examination during the 12 th week of gestation WG. Chromosome and DNA studies of the fetus were realized on cultured amniocytes. Conventional, molecular cytogenetic and microarray CGH experiments allowed us to conclude that the fetus had a de novo pericentromeric inversion associated with a duplication of the 9p As containing the critical 9p22 region, our case is in coincidence with the general phenotype features of the partial trisomy 9p syndrome with major growth retardation, microcephaly and microretrognathia.
This de novo complex chromosome rearrangement illustrates the possible risk of chromosome or gene defects in ICSI program and the contribution of array-CGH for mapping rapidly de novo chromosomal imbalance. The precise risks of genes imprinting and childhood cancer from ART is still unclear but can not be ignored [ 2 ].
Furthermore, gene expression and methylation status in animal embryos can be affected by changing the culture conditions during ART processes [ 3 ]. Partial trisomy 9p is a frequently described chromosome abnormality. The partial trisomic fragments of the published cases are heterogeneous causing unusual presentations of characterized phenotypes [ 4 - 6 ]. The cases with such abnormalities usually present considerable diagnostic difficulties both clinically and cytogenetically.
