Obst Gyn, Prenatal Medicine Erfurt, Erfurt, Germany.
Leipzig, Center of Prenatal Medicine, Leipzig, Germany.
Ultraschall Med. 2023 Jun;44(3):269-279. doi: 10.1055/a-2014-4505. Epub 2023 Mar 7.
Diagnostic puncture (amniocentesis, chorionic villus sampling, and fetal blood sampling) is an essential part of prenatal diagnostics and the only established and sufficiently scientifically evaluated possibility of diagnosing genetic diseases from pregnancy-specific cells. The number of diagnostic punctures in Germany, as in other countries, has fallen significantly. This is largely due to the introduction of first-trimester screening with further detailed ultrasound examination of the fetus and the analysis of cf-DNA (cell-free DNA) from maternal blood (noninvasive prenatal test - NIPT). On the other hand, knowledge about the incidence and appearance of genetic diseases has increased. The development of modern molecular genetic techniques (microarray and exome analysis) makes a differentiated investigation of these diseases increasingly possible. The requirements for education and counseling regarding these complex correlations have thus increased. The studies performed in recent years make it clear that diagnostic puncture performed in expert centers is associated with a low risk of complications. In particular, the procedure-related miscarriage risk hardly differs from the background risk for spontaneous abortion. In 2013, the Section of Gynecology and Obstetrics of the German Society for Ultrasound in Medicine (DEGUM) published recommendations on diagnostic puncture in prenatal medicine 1. The developments described above and new findings in recent years make it necessary to revise and reformulate these recommendations. The aim of this review is to compile important and current facts regarding prenatal medical puncture (including technique, complications, genetic examinations). It is intended to provide basic, comprehensive, and up-to-date information on diagnostic puncture in prenatal medicine. It replaces the publication from 2013 1.
诊断性穿刺（羊水穿刺、绒毛活检和胎儿血样采集）是产前诊断的重要组成部分，也是从妊娠特异性细胞中诊断遗传疾病的唯一已建立且经过充分科学评估的可能性。德国和其他国家一样，诊断性穿刺的数量显著下降。这主要是由于在孕早期进行了筛查，对胎儿进行了进一步的详细超声检查，并分析了母体血液中的 cf-DNA（游离 DNA）（非侵入性产前测试-NIPT）。另一方面，人们对遗传疾病的发病率和表现形式的认识有所提高。现代分子遗传学技术（微阵列和外显子分析）的发展使得对这些疾病进行有区别的调查变得越来越可能。因此，对这些复杂相关性的教育和咨询的要求也有所提高。近年来进行的研究表明，在专家中心进行的诊断性穿刺与低并发症风险相关。特别是，与自然流产的背景风险相比，与该程序相关的流产风险几乎没有差异。2013 年，德国医学超声学会（DEGUM）妇产科分会发布了产前医学诊断性穿刺的建议 1。上述发展和近年来的新发现使得有必要对这些建议进行修订和重新制定。本次综述的目的是整理关于产前医学穿刺（包括技术、并发症、遗传检查）的重要和当前事实。它旨在提供关于产前医学诊断性穿刺的基础、全面和最新信息。它取代了 2013 年的出版物 1。
