Preimplantation genetic diagnosis: Risks and complications

Preimplantation genetic diagnosis (PGD) is a medical procedure involving in vitro fertilization (IVF), oocyte or embryo biopsy and genetic analysis of the polar bodies and/or blastomeres before transfer of an embryo to the uterus. As an alternative to prenatal diagnosis, this procedure allows couples at risk of transmitting a hereditary disease to have unaffected children. The first PGDs, involving sex determination with transfer of XX embryos because of sex-linked disease in the family, were reported in 1990 by Handyside and associates1.SCOPUS: ch.binfo:eu-repo/semantics/publishe

Incidence of chromosomal aberrations in children born after assisted reproduction through intracytoplasmic sperm injection

SCOPUS: ed.jinfo:eu-repo/semantics/publishe

Preimplantation diagnosis: The brussels experience

Preimplantation diagnosis is an early form of prenatal diagnosis, where preimplantation embryos obtained through IVF are analyzed for genetic diseases. This can be done using the polymerase chain reaction (PCR) in the case of monogenetic diseases such as cystic fibrosis (CF), or by fluorescent in situ hybridization (FISH) to determine aneuploidy or gender. Only embryos shown to be free of the disease are transferred to the mother, thus avoiding the termination of pregnancy of a possibly affected foetus. In 1992 we decided to start our own preimplantation diagnosis programme. Here we report the results we have obtained to date.SCOPUS: cp.jinfo:eu-repo/semantics/publishe

Clinical experience with preimplantation genetic diagnosis and intracytoplasmic sperm injection

Preimplantation genetic diagnosis (PGD) is a novel procedure whose use may be considered to obtain a very early prenatal diagnosis for couples at risk for transmitting genetic diseases. Using the polymerase chain reaction (PCR) or fluorescence in-situ hybridization (FISH) the genotype or the sex of biopsied cleavage-stage embryos obtained after in-vitro fertilization can be determined and selected embryos can then be transferred. In-vitro fertilization with intracytoplasmic sperm injection is the method of choice to obtain embryos to be analysed through PCR to reduce contamination by residual sperm DNA. In our series of 61 PGD cycles for 29 couples at risk over a period of 4 years the ongoing pregnancy rate per cycle was 15%, per transfer 19% and per patient 31%. One of the six morphologically normal children born, who is still alive and doing well, weighed 850 g after birth at 25 weeks following a complicated triplet pregnancy. More experience is needed to correctly evaluate the efficiency and safety of this novel technique as well as to determine its place in the prevention of genetic disease.SCOPUS: cp.jinfo:eu-repo/semantics/publishe

An excess of chromosome 1 breakpoints in male infertility

In a search for potential infertility loci, which might be revealed by clustering of chromosomal breakpoints, we compiled 464 infertile males with a balanced rearrangement from Mendelian Cytogenetics Network database (MCNdb) and compared their karyotypes with those of a Danish nation-wide cohort. We excluded Robertsonian translocations, rearrangements involving sex chromosomes and common variants. We identified 10 autosomal bands, five of which were on chromosome 1, with a large excess of breakpoints in the infertility group. Some of these could potentially harbour a male-specific infertility locus. However, a general excess of breakpoints almost everywhere on chromosome 1 was observed among the infertile males: 26.5 versus 14.5% in the cohort. This excess was observed both for translocation and inversion carriers, especially pericentric inversions, both for published and unpublished cases, and was significantly associated with azoospermia. The largest number of breakpoints was reported in 1q21; FISH mapping of four of these breakpoints revealed that they did not involve the same region at the molecular level. We suggest that chromosome 1 harbours a critical domain whose integrity is essential for male fertility