Institut für Humangenetik, Universitätsklinikum Münster, Germany.
Dtsch Arztebl Int. 2010 Dec;107(48):857-62. doi: 10.3238/arztebl.2010.0857. Epub 2010 Dec 3.
Prenatal diagnosis is a subfield of clinical genetics and gynecology that exemplifies the effective integration of theoretical and clinical medicine. Milestones in its history include the development of cytogenetic, molecular genetic, and molecular cytogenetic methods as well as advances in ultrasonography. The latter technique not only improves the safety of invasive procedures, but also enables earlier and more reliable diagnosis of congenital malformations.
This article provides an overview of the subject in the light of selectively reviewed literature, guidelines, and recommendations.
Invasive prenatal diagnosis is most commonly performed to assess the embryonal/fetal chromosome set. An increasing number of monogenic diseases can be diagnosed prenatally by either genetic or biochemical testing, depending on the particular disease being sought. Polygenic and multifactorial diseases cannot be reliably diagnosed by genetic testing at present, although a number of malformations can be ascertained prenatally by ultrasonography. We discuss the applications and limitations of invasive and noninvasive techniques for prenatal diagnosis.
产前诊断是临床遗传学和妇科学的一个分支，它体现了理论医学和临床医学的有效结合。其历史上的里程碑包括细胞遗传学、分子遗传学和分子细胞遗传学方法的发展以及超声技术的进步。后者不仅提高了侵入性程序的安全性，而且还能够更早、更可靠地诊断先天性畸形。
本文根据选择性综述文献、指南和建议，对该主题进行了概述。
侵入性产前诊断最常用于评估胚胎/胎儿染色体组。越来越多的单基因疾病可以通过遗传或生化检测进行产前诊断，具体取决于所寻求的特定疾病。目前，遗传检测不能可靠地诊断多基因和多因素疾病，尽管许多畸形可以通过超声检查在产前确定。我们讨论了产前诊断中侵入性和非侵入性技术的应用和局限性。
