Preconception carrier screening and preimplantation genetic testing in the infertility management.

IF 3.2 2区 医学 Q1 ANDROLOGY
Andrology Pub Date : 2024-08-21 DOI:10.1111/andr.13744
Silvia Caroselli, Maurizio Poli, Valentina Gatta, Liborio Stuppia, Antonio Capalbo
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Abstract

Background: Genetic testing serves as a valuable element of reproductive care, applicable at various stages of the reproductive journey: (i) before pregnancy, when a couple's genetic reproductive risk can be evaluated; (ii) before embryo implantation, as part of in vitro fertilization (IVF) treatment, to ascertain several inherited or de novo genetic/chromosomal diseases of the embryo before transfer; (iii) during the prenatal period, to assess the genetic costitution of the fetus. Preconception carrier screening (CS) is a genetic test typically performed on couples planning a pregnancy. The primary purpose of CS is to identify couples at-risk of conceiving a child affected by a severe genetic disorder with autosomal recessive or X-linked inheritance. Detection of high reproductive risk through CS allows prospective parents to be informed of their predisposition and improve reproductive decision-making. These include undergoing IVF with preimplantation genetic testing (PGT) or donor gametes, prenatal diagnosis, adoption, remaining childless, taking no actions. Both the presence of the affected gene (PGT-M) and chromosomal status (PGT-A) of the embryo can be comprehensively assessed through modern approaches.

Objectives: We provide a review of CS and PGT applications to equip healthcare providers with up-to-date information regarding their opportunities and complexities.

Results and discussion: The use of CS and PGT is currently considered the most effective intervention for avoiding both an affected pregnancy whilst using autologous gametes in couples with known increased risk, and chromosomal abnormalities. As our understanding in the genetic component in pathological conditions increases, the number of tested disorders will expand, offering a more thorough assessment of one's genetic inheritance. Nevertheless, implementation and development in this field must be accompanied by scientific and ethical considerations to ensure this approach serves the best long-term interests of individuals and society, promoting justice and autonomy and preserving parenthood and the healthcare system.

Conclusion: The combination of CS and PGT aligns with principles of personalized medicine by offering reproductive care tailored to the individual's genetic makeup.

不孕症治疗中的孕前携带者筛查和植入前基因检测。
背景:基因检测是生殖保健的重要组成部分,适用于生殖过程的不同阶段:(i) 孕前,可评估夫妇的遗传生殖风险;(ii) 胚胎植入前,作为体外受精(IVF)治疗的一部分,可在胚胎移植前确定胚胎的几种遗传或新生遗传/染色体疾病;(iii) 产前,可评估胎儿的遗传成本。孕前携带者筛查(CS)通常是对计划怀孕的夫妇进行的基因检测。孕前携带者筛查的主要目的是识别有可能怀上常染色体隐性遗传或 X 连锁遗传的严重遗传疾病患儿的夫妇。通过 CS 检测出高生育风险后,准父母就可以了解自己的易感性,并改进生育决策。这些决策包括接受植入前基因检测(PGT)或配子捐赠的体外受精、产前诊断、收养、不生育或不采取任何行动。胚胎受影响基因(PGT-M)和染色体状态(PGT-A)均可通过现代方法进行全面评估:我们对 CS 和 PGT 的应用进行了综述,以便为医疗服务提供者提供有关其机遇和复杂性的最新信息:目前,使用CS和PGT被认为是避免受影响妊娠的最有效干预措施,同时可避免已知风险增加的夫妇使用自体配子和染色体异常。随着我们对病理情况中遗传因素的了解不断加深,受测疾病的数量也将不断增加,从而可以更全面地评估一个人的遗传情况。然而,这一领域的实施和发展必须伴随着科学和伦理方面的考虑,以确保这种方法符合个人和社会的最佳长期利益,促进公正和自主,维护父母身份和医疗保健系统:CS 与 PGT 的结合符合个性化医疗的原则,可提供针对个人基因构成的生殖护理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Andrology
Andrology ANDROLOGY-
CiteScore
9.10
自引率
6.70%
发文量
200
期刊介绍: Andrology is the study of the male reproductive system and other male gender related health issues. Andrology deals with basic and clinical aspects of the male reproductive system (gonads, endocrine and accessory organs) in all species, including the diagnosis and treatment of medical problems associated with sexual development, infertility, sexual dysfunction, sex hormone action and other urological problems. In medicine, Andrology as a specialty is a recent development, as it had previously been considered a subspecialty of urology or endocrinology
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