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Collected data on preimplantation genetic diagnosis
The European Society of Human Reproduction and Embryology (ESHRE) has published collected data on preimplantation genetic diagnosis (PGD) treatments carried out by 26 collaborating centres over the seven years up to 1 May 2000 [EHSRE PGD Consortium Steering Committee (2000) Human Reproduction 15, 2673-2683]. These data provide information about many factors, including the purposes for which PGD has been carried out, the reproductive histories of the patients requesting PGD, the success rates of different biopsy procedures, and pregnancy outcomes. Altogether, data on 886 couples and 1318 PGD cycles have been collected; these cycles resulted in 162 live-born babies of whom 70% were singletons. Of the 886 referrals, about a third were because of chromosomal abnormalities (mostly translocations) and the remainder largely for single-gene disorders such as cystic fibrosis, myotonic dystrophy and Huntington's disease. The were four cases of misdiagnosis, of which two were terminated during the second trimester. In almost 30% of referrals, genetic risk in the couple was combined with infertility or sub-fertility. Of the 162 live-born children, information on malformations was available for 130. 121 babies had no abnormality; of the remaining nine, seven had non-life-threatening malformations such as clubfoot, while two had fatal malformations.
Comment: Information such as that collected by the ESHRE will be useful both for assessing the value of PGD and for counselling prospective patients.
