Centre for Preimplantation Genetic Diagnosis, The Fertility Clinic, Aarhus University Hospital, Skejby, Aarhus, Denmark.
Acta Obstet Gynecol Scand. 2012 Jul;91(7):876-8. doi: 10.1111/j.1600-0412.2012.01392.x. Epub 2012 May 1.
Bone marrow transplantation may be life saving in cases of hematopoietic disease, severe congenital immunodeficiency or malignancy. An HLA-matching sibling often gives the best success, but this may not be an option, nor may an HLA-matching unrelated donor be found. Preimplantation genetic diagnosis with HLA-matching embryos may then be a solution. We report the first Danish child born after such diagnosis with identification of healthy embryos and HLA matching for a sibling with chronic granulomatous disease. Our patient had 13 in vitro fertilization (IVF) cycles; 286 oocytes were collected and 74 embryos analysed. Sixteen of these (22%) were either healthy or carriers. Five embryos were transferred in four stimulated fresh IVF cycles. Four embryos were frozen, and two were later transferred. Two successive clinical pregnancies ensued. In the first, prenatal diagnosis revealed trisomy 21, and the fetus was aborted. In the second pregnancy, chorionic villus sampling revealed a normal karyotype, the diagnosis was confirmed, and the pregnancy was normal. At delivery, 82 mL of cord blood was collected for later transplantation to the diseased sibling.
骨髓移植可能对造血疾病、严重先天性免疫缺陷或恶性肿瘤具有挽救生命的作用。与 HLA 匹配的兄弟姐妹通常是最佳选择，但这种情况并不总是可行，也可能找不到与 HLA 匹配的无关供体。在这种情况下，通过植入前遗传诊断选择与 HLA 匹配的胚胎可能是一种解决方案。我们报告了首例丹麦儿童的诞生，该儿童通过鉴定健康胚胎和 HLA 匹配，用于治疗患有慢性肉芽肿病的兄弟姐妹。我们的患者经历了 13 个体外受精（IVF）周期；共采集了 286 个卵母细胞，分析了 74 个胚胎。其中 16 个胚胎（22%）是健康的或携带者。在四个刺激新鲜 IVF 周期中移植了 5 个胚胎。两个胚胎被冷冻，随后又转移了两个。接着进行了两次连续的临床妊娠。第一次妊娠中，产前诊断显示 21 三体，胎儿被流产。第二次妊娠中，绒毛膜活检显示正常核型，诊断得到确认，妊娠正常。分娩时，采集了 82 毫升脐带血，以备将来移植给患病的兄弟姐妹。
