Präimplantationsdiagnostik
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- 作者：Prof. Dr. rer. nat Christine Zühlke ; Yorck Hellenbroich…
- 关键词：SchlüsselwörterPräimplantationsdiagnostik (PID) ; PID ; Kommission ; PID ; Zentrum Lübeck ; Anfragen für PID ; Interdisziplinäre Beratung
- 刊名：medizinische genetik
- 出版年：2016
- 出版时间：December 2016
- 年：2016
- 卷：28
- 期：3
- 页码：304-309
- 全文大小：
- 刊物主题：Reproductive Medicine; Human Genetics; Pediatrics; Obstetrics/Perinatology;
- 出版者：Springer Medizin
- ISSN：1863-5490
- 卷排序：28
文摘
For couples in Germany wanting to have children, in whom there is an increased probability of miscarriage or still birth, or who are at a high risk of transmitting a monogenic inherited disorder or a structural chromosomal aberration resulting in the birth of offspring with a severe genetic disease, preimplantation genetic diagnosis (PGD) is one option. Here, we report the first data from the PGD Center Lübeck, Germany, which was approved on 1 March 2014 by the Ministry of Health in Schleswig-Holstein. From March 2014 to June 2016, a total of 230 couples contacted our center, including 108 who had passed the first assessment of the Lübeck PGD committee. The main indications have been single gene disorders (70 %) compared with inherited chromosome abnormalities (30 %). Multiple requests refer to Huntington’s disease, cystic fibrosis, spinal muscular atrophy, Duchenne muscular dystrophy, β‑thalassemia, myotonic dystrophy, fragile X syndrome, and neurofibromatosis. Of the 71 couples counselled 28 asked for ethical approval from the PGD Ethics Committee. Of the 28 applications to the PGD Ethics Committee, 14 cases involved translocations and 14 cases monogenic causes. 27 applications were accepted and one was rejected. For 11 couples PGD cycles were performed during the aforementioned period, seven for translocations (by array-based comparative genomic hybridization), and four for monogenic disorders (mutation detection combined with linkage analyses for polymorphic markers).