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双卵双胎妊娠中重型地中海贫血产前诊断后仅健康胎儿的选择性存活。

Selective survival of only the healthy fetus following prenatal diagnosis of thalassaemia major in binovular twin gestation.

作者信息

Antsaklis A, Politis J, Karagiannopoulos C, Kaskarelis D, Karababa P, Panourgias J, Boussiou M, Loukopoulos D

出版信息

Prenat Diagn. 1984 Jul-Aug;4(4):289-96. doi: 10.1002/pd.1970040408.

Abstract

Selective feticide is the procedure of choice when, in twin binovular pregnancy, only one of the fetuses is shown to be affected. As the probabilities for this condition are almost 1:2 when the genetic disease is due to homozygosity for two autosomal recessive genes, the problem is expected to occur frequently among the ever increasing number of couples seeking prenatal diagnosis of thalassaemia and the haemoglobinopathies. The present report is the first case of this condition and the ninth in the overall medical literature.

摘要

在双卵双胎妊娠中,当仅显示一个胎儿受影响时,选择性减胎术是首选的操作方法。由于当遗传性疾病是由两个常染色体隐性基因的纯合性引起时,这种情况的概率几乎为1:2,预计在越来越多寻求地中海贫血和血红蛋白病产前诊断的夫妇中,这个问题会经常出现。本报告是该病症的首例,也是整个医学文献中的第九例。

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