Umbilical cord blood transplants for genetic disease: diagnostic and ethical issues in fetal studies.

Blood cells Pub Date : 1994-01-01
A D Auerbach
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Abstract

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.

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脐带血移植治疗遗传病:胎儿研究中的诊断和伦理问题。
异体骨髓移植可治疗多种遗传性疾病。对培养的胎儿细胞进行预测性基因检测和HLA分型,可以在怀孕早期就知道胎儿在基因上是正常的,并且与患有遗传病的兄弟姐妹的HLA相同。脐带血可以在hla匹配的正常兄弟姐妹分娩时收集,用于受影响儿童的干细胞/祖细胞移植。我们与范可尼贫血儿童家庭的经验表明,为了提供移植供体的可能性,通常会有意受孕。本文综述了脐带血移植可能治疗的遗传疾病以及这些疾病的产前检测方法和缺陷。我们的实验室在范可尼贫血的产前诊断方面的丰富经验被讨论,并为提供移植供体的目的提供了与胎儿受孕相关的伦理问题的检查框架。
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Index Blood sampling and blood film preparation and examination Performing a blood count Morphology of blood cells Detecting erroneous blood counts
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