Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Hum Reprod. 2011 Jul;26(7):1826-35. doi: 10.1093/humrep/der137. Epub 2011 May 9.
PGD is nowadays a well-established alternative to prenatal diagnosis. However, information with respect to couples' motives and profiles for choosing PGD is scarce.
A prospective cohort of 264 couples referred for PGD was interviewed semi-structurally after intake, and follow-up data were collated after 6-8 years. Outcome measures were: the primary choice shortly after intake (PGD intention), and their definitive use, until maximum 8 years later (PGD use). Logistic regression analysis was performed with clinical impact of the genetic disorder, couples' experiences, obstetric history and psychosocial factors as putative predictors.
About 53.4% of the couples showed PGD intention. The experience of one or more miscarriages, the loss of an affected child and the absence of (acceptable) alternatives for the female partner positively contributed to PGD intention. For PGD use (45.8% of couples), infertility, a history of pregnancy termination(s) and the absence of alternatives according to the female partner were positive determinants. A living affected child reduced PGD use. Mode of inheritance and clinical impact of the disorder did not contribute.
Fewer than 50% of the referred couples actually started PGD treatment. Personal experiences and reproductive history [the presence of a living affected child, infertility or a history of termination of pregnancy (TOP)] were more important determinants of eventual PGD use than the mode of inheritance or the expected clinical impact of the disorder.
PGD 如今已成为产前诊断的成熟替代方法。然而，关于夫妇选择 PGD 的动机和特征的信息却很少。
对 264 对接受 PGD 的夫妇进行了前瞻性队列研究，在接受 PGD 后进行了半结构化访谈，并在 6-8 年后收集了随访数据。主要结局指标为：接受 PGD 后短期内的主要选择（PGD 意向），以及最多 8 年后的实际使用（PGD 使用）。采用逻辑回归分析，以遗传疾病的临床影响、夫妇的经历、产科史和心理社会因素为潜在预测因素。
约 53.4%的夫妇表现出 PGD 意向。一次或多次流产的经历、失去患有遗传疾病的孩子以及女性伴侣没有（可接受的）替代方案，都有助于 PGD 意向的形成。对于 PGD 的实际使用（45.8%的夫妇），不孕、怀孕终止史以及女性伴侣认为没有替代方案是积极的决定因素。有一个患有遗传疾病的存活孩子会降低 PGD 的使用。遗传方式和疾病的临床影响没有贡献。
接受 PGD 治疗的夫妇不到一半。个人经历和生殖史[存在患有遗传疾病的孩子、不孕或怀孕终止史（TOP）]是决定最终 PGD 使用的更重要因素，而不是遗传方式或疾病的预期临床影响。
