Hanson C, Hamberger L
Department of Obstetrics and Gynecology, Göteborg University, Sweden.
Acta Obstet Gynecol Scand Suppl. 1997;164:19-21.
Preimplantation genetic diagnosis (PGD) is a new technique which may become an attractive alternative to traditional prenatal diagnosis for couples at risk of getting children with severe genetic diseases. We here report our experience after the first trials in Sweden.
On day three after fertilization by intracytoplasmic sperm injection (ICSI) one or two blastomeres were biopsied and diagnosed by fluorescence in situ hybridization (FISH). Gender determination was done in two cases where the female in the couples were carrier of a severe X-chromosome bound disease (Wiskott-Aldrich disease or ornithine transcarbamylase deficiency).
The first couple got an embryo transfer in each of their two treatment cycles. Two female embryos were transferred in the first cycle and one in the second cycle. The second couple did not get any embryo transfer in their two cycles. No clinical pregnancy occurred.
With the rapidly improving knowledge about inherited disease and refinement of the IVF techniques, PGD will play an important clinical role in high risk groups within a decade for both mono- and polygenic disorders. Both technical as well as legal and ethical problems have however to be solved before these new techniques can be applied on large scale.
植入前基因诊断（PGD）是一项新技术，对于有生育患严重遗传疾病子女风险的夫妇而言，它可能成为传统产前诊断颇具吸引力的替代方法。我们在此报告瑞典首次试验后的经验。
在通过卵胞浆内单精子注射（ICSI）受精后的第三天，取一个或两个卵裂球进行活检，并通过荧光原位杂交（FISH）进行诊断。在两例夫妇中，女性为严重X染色体连锁疾病（威斯科特-奥尔德里奇综合征或鸟氨酸转氨甲酰酶缺乏症）携带者的情况下进行了性别鉴定。
第一对夫妇在他们的两个治疗周期中均进行了胚胎移植。第一个周期移植了两个雌性胚胎，第二个周期移植了一个。第二对夫妇在他们的两个周期中均未进行胚胎移植。未发生临床妊娠。
随着对遗传疾病的认识迅速提高以及体外受精技术的完善，PGD在未来十年内将在单基因和多基因疾病的高危人群中发挥重要的临床作用。然而，在这些新技术能够大规模应用之前，技术以及法律和伦理问题都必须得到解决。
