Preimplantation genetic diagnosis: update

To report the birth of the first fourteen infants conceived after preimplantation genetic diagnosis (PGD) in our unit. Fifty-nine couples were enrolled between January 2000 and July 2001. They had a total of 71 oocyte pick-up cycles. The collected oocytes were inseminated by intracytoplasmic sperm injection. The resulting embryos were biopsied on the third day of development and the genetic analysis was performed on the same day. Most of the embryo transfers were carried out on the fourth day. The 71 oocyte pick-up cycles yielded 872 oocytes of which 731 were suitable for intacytoplasmic sperm injection. Among the 505 embryos obtained, 421 embryos were biopsied and genetic diagnosis was performed for 312 (74%) of these. 127 embryos were transferred during the course of 58 transfer procedures. There were 18 biochemical and 12 ongoing (7 singles, 4 twins and I triple) pregnancies. Sixteen infants have been born and 2 are expected PGD has gained a place among the choices offered to couples at risk of transmission of a serious and incurable genetic disease.