Auerbach A D
Laboratory for Investigative Dermatology, Rockefeller University, New York, New York 10021-6399, USA.
Blood Cells. 1994;20(2-3):303-9.
A variety of genetic disorders are treatable by allogeneic bone marrow transplantation. Predictive genetic testing and HLA typing of cultured fetal cells enable one to know early in a pregnancy that a fetus is genetically normal and is HLA-identical to a sibling affected with a genetic disease. Umbilical cord blood can be collected at the delivery of an HLA-matched normal sibling and used for stem/progenitor cell transplantation for the affected child. Our experience with families of children with Fanconi anemia has shown that the deliberate conception of a fetus for the possibility of providing a transplant donor is often undertaken. This paper reviews the genetic diseases potentially treatable by cord blood transplantation and the methods and pitfalls of prenatal testing for these conditions. Our laboratory's extensive experience with prenatal diagnosis for Fanconi anemia is discussed and provides the framework for an examination of the ethical issues related to the conception of a fetus for the purpose of providing a transplant donor.
多种遗传性疾病可通过异基因骨髓移植进行治疗。对培养的胎儿细胞进行预测性基因检测和HLA分型，能够让人们在孕期早期就了解胎儿基因正常且与患遗传病的同胞HLA匹配。在HLA匹配的正常同胞分娩时可采集脐带血，并用于为患病儿童进行干细胞/祖细胞移植。我们对范可尼贫血患儿家庭的经验表明，人们常常会特意受孕，以期有可能提供移植供体。本文综述了可通过脐带血移植潜在治疗的遗传性疾病以及针对这些病症的产前检测方法和陷阱。我们实验室在范可尼贫血产前诊断方面的丰富经验也在文中进行了讨论，并为审视与为提供移植供体而受孕相关的伦理问题提供了框架。
