Application of single-needle blastomere biopsy in human preimplantation genetic diagnosis

Abstract

We have tested and subsequently successfully applied a single‐needle approach to obtain blastomere biopsies from human preimplantation embryos for preimplantation genetic diagnosis (PGD). The method was first evaluated in a mouse system and shown to be compatible with a high degree of in vitro and in vivo development of biopsied mouse embryos. Furthermore, we showed that biopsied mouse embryos after transfer to recipient mice underwent implantation, normal development and delivery. Litters were followed through puberty and adulthood and shown to be normal with regard to sexual function and also a panel of biochemical and morphological parameters including organ histology. Successful human preimplantation diagnosis, followed by pregnancies and birth of healthy babies, was established with two out of three couples carrying a risk to transmit chromosomal abnormalities leading to severe disease. This is the first report of the successful use of a single‐needle approach in human PGD. Considering its simplicity, we conclude that the single‐needle approach is an attractive alternative for biopsies in PGD. Copyright © 1998 John Wiley & Sons, Ltd.

Arrested human embryos are more likely to have abnormal chromosomes than developing embryos from women of advanced maternal age

“…Currently, PGS is performed in samples biopsied from polar bodies [10-13], cleavage embryos [14,15] or blastocysts [16,17]. It has been found that blastocysts have less mosaicism than cleavage embryos, thus most laboratories prefer blastocyst biopsy, in which multiple cells from the trophectoderm (TE) are biopsied and used for screening [8,9].…”

Clinical outcome of treatment cycles using preimplantation genetic diagnosis for structural chromosomal abnormalities

“…The IVF unit at Huddinge University Hospital, in collaboration with the Department of Molecular Medicine at the Karolinska Hospital and the Unit for Embryo and Genome Research, Novum, Karolinska Institute, Stockholm is one of the two units in Sweden offering PGD. The first treated couple was at risk of transmitting a deletion of chromosome 22 and underwent PGD in 1996 (Inzunza et al, 1998;Iwarsson et al, 1998a). Since then, 17 further couples have been treated, all of them at risk of transmitting a serious chromosomal disorder.…”

Aspects of biopsy procedures prior to preimplantation genetic diagnosis

“…In order to avoid acidic exposure of cells completely, drilling and blastomere aspiration using a single, larger drilling/biopsy pipette (Chen et al, 1998) therefore seems not a good approach. Despite excellent pregnancy rates reported by one group using the same single-needle approach Iwarsson et al, 1998Iwarsson et al, , 2000, the blastomere lysis rate at biopsy seems rather high (11%; Inzunza et al, 1998). Chemical zona drilling followed by blastomere aspiration is normally done with separate pipettes (one drilling pipette with inner diametert5-7 mm, and one aspiration or biopsy pipette with inner diameter t40 mm) using a double holder set-up.…”