Department of Medical Genetics, National and Kapodistrian University of Athens, St Sophia's Children's Hospital, Athens 11527, Greece.
Expert Rev Mol Diagn. 2011 Apr;11(3):299-312. doi: 10.1586/erm.11.7.
Disorders of hemoglobin synthesis have been used as a prototype for the development of most approaches for prenatal diagnosis (PND). PND for hemoglobinopathies based on molecular analysis of trophoblast or amniocyte DNA has accumulated approximately 30 years of experience. Disadvantages with conventional PND include 'invasive' fetal sampling and the need to terminate affected ongoing pregnancies. New developments are directed towards improving both the timing and/or safety of procedures. Preimplantation genetic diagnosis, an established procedure with 20 years of clinical application, avoids the need to terminate affected pregnancies through the identification and selective transfer of unaffected in vitro fertilization embryos. Approaches towards 'noninvasive' PND, through analyzing fetal cells or free fetal DNA present in the circulation of pregnant women, are a focus of ongoing research. Overall, PND, preimplantation genetic diagnosis (and potentially 'noninvasive' PND) represent valuable reproductive options for couples at risk of having a child affected with a severe inherited disease.
血红蛋白合成障碍已被用作大多数产前诊断 (PND) 方法发展的原型。基于滋养层或羊膜细胞 DNA 的分子分析进行血红蛋白病的 PND 已经积累了大约 30 年的经验。传统 PND 的缺点包括“有创”的胎儿采样和需要终止受影响的妊娠。新的发展旨在改善程序的时间和/或安全性。胚胎植入前遗传学诊断是一种经过 20 年临床应用的成熟程序，通过鉴定和选择性转移不受影响的体外受精胚胎，避免了终止受影响妊娠的需要。通过分析孕妇循环中存在的胎儿细胞或游离胎儿 DNA 进行“非侵入性”PND 的方法是正在进行的研究的重点。总的来说，PND、胚胎植入前遗传学诊断（和潜在的“非侵入性”PND）为有风险生育患有严重遗传性疾病的孩子的夫妇提供了有价值的生殖选择。
