[胎儿医学中的遗传学]。

Q4 Medicine

Ugeskrift for laeger Pub Date : 2025-04-28 DOI:10.61409/V12240853

Simon Horsholt Thomsen, Tina Duelund Hjortshøj, Malou Barbosa, Lone Laursen, Martin Larsen, Marie Skov Hvidbjerg, Pernille Tørring, Lene Sperling, Ida Charlotte Bay Lund, Lotte Andreasen, Anja Ernst, Lone Sunde, Marie Balslev-Harder, Olav Bjørn Petersen, Stina Lou, Naja Becher, Ida Vogel

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引用次数: 0

摘要

丹麦产前项目和基因检测为怀孕夫妇提供了了解严重和可能危及生命的胎儿状况的机会。虽然侵入性诊断方法仍然是金标准，但非侵入性技术的进步正在成为有价值的替代方法，但它们仍然降低了分辨率。全基因组测序提供了更高的分辨率，但也带来了与成本、不确定的发现和次要结果相关的挑战。咨询和多学科合作对于支持夫妻做出这些复杂的决定至关重要。

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[Genetics in fetal medicine].

The Danish prenatal program and genetic testing provide pregnant couples with the opportunity to learn about serious and potentially life-threatening fetal conditions. While invasive diagnostic methods remain the gold standard, advances in non-invasive technologies are emerging as valuable alternatives but they still have reduced resolution. Whole genome sequencing offers much increased resolution but raises challenges related to costs, uncertain findings, and secondary results. Counselling and multidisciplinary collaboration are critical to supporting couples navigating these complex decisions.

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来源期刊

Ugeskrift for laeger Medicine-Medicine (all)

CiteScore

0.20

自引率

0.00%

发文量

345

期刊介绍： The Ulster Medical Journal is an international general medical journal with contributions on all areas of medical and surgical specialties relevant to a general medical readership. It retains a focus on material relevant to the health of the Northern Ireland population. The Honorary Editor would welcome offers of papers for publication. Prospective authors are invited to read the notice to contributors.