Birth After Preimplantation Diagnosis of the Cystic Fibrosis △F508 Mutation by Polymerase Chain Reaction in Human Embryos Resulting From Intracytoplasmic Sperm Injection With Epididymal Sperm
Birth After Preimplantation Diagnosis of the Cystic Fibrosis △F508 Mutation by Polymerase Chain Reaction in Human Embryos Resulting From Intracytoplasmic Sperm Injection With Epididymal Sperm
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附睾精子胞浆内注射引起的人胚胎囊性纤维化△F508聚合酶链反应植入前诊断后出生
DOI：
10.1001/jama.1994.03520230068040
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发表时间：
1994
期刊：
影响因子：
--
通讯作者：
A. Steirteghem
中科院分区：
文献类型：
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作者：
Jiaen Liu;W. Lissens;S. J. Silber;P. Devroey;I. Liebaers;A. Steirteghem
先天性双侧输精管缺如（CBAVD）的男性被认为是一种轻度的囊性纤维化（CF）。在本文中，我们报告了一例男性因素不孕症病例，其中双方伴侣都是△F508突变的携带者，男性伴侣患有CBAVD。采用显微外科附睾精子抽吸术（梅萨）获取精子，对活动力严重受损的卵母细胞进行卵胞浆内单精子注射（ICSI），并进行胚胎活检和聚合酶链反应（PCR）进行CF △F508突变的植入前诊断。进行单卵裂球分析，表明2个胚胎受影响（纯合子△F508），3个胚胎为携带者。移植后三个胚胎后，建立了单胎妊娠。在胎盘穿刺术中，证实了具有46，XY核型的胎儿的△F508携带状态。一个健康的男孩出生和输精管的存在，双边，被证实。CF汗液测试也正常。CBAVD患者行梅萨联合ICSI可获得成功受精。CF的植入前诊断适用。这类患者可随后怀孕和生育正常儿童。（JAMA. 1994;272：1858-1860）
Men with congenital bilateral absence of the vas deferens (CBAVD) have been regarded as presenting a mild form of cystic fibrosis (CF). In this article, we report a case of male-factor infertility, in which both partners are carriers of the △F508 mutation and the male partner has CBAVD. Microsurgical epididymal sperm aspiration (MESA) was performed to obtain spermatozoa; intracytoplasmic sperm injection (ICSI) was carried out on the oocytes since the motility of the spermatozoa was severely impaired; and embryo biopsy and a polymerase chain reaction (PCR) were carried out for preimplantation diagnosis of the CF △F508 mutation. Single-blastomere analysis was performed and indicated that two embryos were affected (homozygous △F508) and three embryos were carriers. After transfer of the latter three embryos, a singleton pregnancy was established. At amniocentesis, the △F508 carrier status of the fetus with a 46, XY karyotype was confirmed. A healthy boy was born and the presence of vasa deferentia, bilaterally, was confirmed. The CF sweat test was also normal. Successful fertilization can be obtained by combination of MESA and ICSI in patients with CBAVD. Preimplantation diagnosis of CF is indicated. Pregnancy and birth of normal children can ensue in such patients. (JAMA. 1994;272:1858-1860)
DOI：
10.1001/jama.1992.03480130110034
发表时间：
1992-04
期刊：
JAMA
影响因子：
--
作者：
A. Anguiano;R. Oates;J. Amos;Michael Dean;B. Gerrard;C. Stewart;T. Maher;M. White;A. Milunsky-A.
通讯作者：
A. Anguiano;R. Oates;J. Amos;Michael Dean;B. Gerrard;C. Stewart;T. Maher;M. White;A. Milunsky-A.