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利用植入前基因诊断保护后代免受遗传性疾病影响:一篇叙述性综述文章。

Protecting Future Generations From Hereditary Genetic Disorders Using Preimplantation Genetic Diagnosis: A Narrative Review Article.

作者信息

Zolaly Farah M, Zaman Amal Y, Hazmi Shaden M

机构信息

Medicine, College of Medicine, Taibah University, Medina, SAU.

Obstetrics and Gynaecology, Taibah University, Medina, SAU.

出版信息

Cureus. 2024 Dec 10;16(12):e75465. doi: 10.7759/cureus.75465. eCollection 2024 Dec.

Abstract

Preimplantation genetic diagnosis (PGD) is provided by majority of reproductive clinics in the United States (US), and PGD is used in many in vitro fertilization (IVF) procedures every year. PGD is extensively used to screen for certain genetic abnormalities and aneuploidy in individuals undergoing IVF. Genetic disorders are very prevalent in Saudi Arabia. The high prevalence of consanguinity in the population explains, to a great extent, the incidence of genetic disorders being relatively higher in the Kingdom of Saudi Arabia (KSA) compared to many other countries. Estimates range from 6% to 10% among all live births, and at least one study estimated that up to 30% of the population couldbe affected by a genetic disorder at any time in their lifetime. Therefore, a preventive measure such as PGD is useful for detecting genetic disorders before implantation. In KSA, genetic disorders are prevalent with a high psychological and financial burden. A diagnostic procedure like PGD is useful for detecting genetic disorders. It is used to analyze embryos under the IVF cycle. Then, a biopsy is taken from the embryos and analyzed using techniques such as polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH). Only healthy embryos are transferred to the uterus, thus eliminating the need for a parental diagnostic test that comes with substantial risk to the mother and the fetus. PGD is used for the detection of genetic abnormalities such as sex-linked diseases and chromosomal abnormalities, helping parents with genetic disorders to conceive a healthy child. Some of the limitations of PGD are its unavailability and the high cost, which limit the access for parents of low socioeconomic status. It creates many decision-making problems for the facilities and parents. Our objectives include giving an overview of PGD history, demonstrating indications for this procedure, explaining its techniques, and discussing the ethical issues surrounding it. PGD offers improved IVF results and reduced genetic disorder prevalence but also has disadvantages like high costs, limited access, and ethical concerns.

摘要

美国大多数生殖诊所都提供植入前基因诊断(PGD),并且每年在许多体外受精(IVF)程序中都会使用PGD。PGD被广泛用于筛查接受IVF的个体中的某些基因异常和非整倍体。遗传疾病在沙特阿拉伯非常普遍。该国人口中近亲结婚率很高,这在很大程度上解释了沙特阿拉伯王国(KSA)与许多其他国家相比,遗传疾病的发病率相对较高。据估计,在所有活产婴儿中,这一比例在6%至10%之间,并且至少有一项研究估计,高达30%的人口在其一生中的任何时候都可能受到遗传疾病的影响。因此,像PGD这样的预防措施对于在植入前检测遗传疾病很有用。在沙特阿拉伯,遗传疾病很普遍,会带来很高的心理和经济负担。像PGD这样的诊断程序对于检测遗传疾病很有用。它用于在IVF周期中分析胚胎。然后,从胚胎中取出活检组织,并使用聚合酶链反应(PCR)和荧光原位杂交(FISH)等技术进行分析。只将健康的胚胎移植到子宫中,从而无需进行对母亲和胎儿有重大风险的父母诊断测试。PGD用于检测诸如性连锁疾病和染色体异常等基因异常,帮助患有遗传疾病的父母怀上健康孩子。PGD的一些局限性在于其难以获得且成本高昂,这限制了社会经济地位较低的父母的使用。它给医疗机构和父母带来了许多决策问题。我们的目标包括概述PGD的历史、展示该程序的适应症、解释其技术,并讨论围绕它的伦理问题。PGD提高了IVF的成功率并降低了遗传疾病的患病率,但也有成本高、获取受限和伦理问题等缺点。

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Preimplantation genetic diagnosis: state of the art.植入前基因诊断:最新技术水平
Eur J Obstet Gynecol Reprod Biol. 2009 Jul;145(1):9-13. doi: 10.1016/j.ejogrb.2009.04.004. Epub 2009 May 2.
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Preimplantation genetic diagnosis in Saudi Arabia.沙特阿拉伯的植入前基因诊断。
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