Department of Genome Sciences, University of Washington, Seattle, WA, USA.
Prenat Diagn. 2013 Jun;33(6):547-54. doi: 10.1002/pd.4097. Epub 2013 Apr 1.
We recently demonstrated whole genome sequencing of a human fetus using only parental DNA samples and plasma from the pregnant mother. This proof-of-concept study demonstrated how samples obtained noninvasively in the first or second trimester can be analyzed to yield a highly accurate and substantially complete genetic profile of the fetus, including both inherited and de novo variation. Here, we revisit our original study from a clinical standpoint, provide an overview of the scientific approach, and describe opportunities and challenges along the path toward clinical adoption of noninvasive fetal whole genome sequencing.
我们最近仅使用父母的 DNA 样本和孕妇的血浆对一个人类胎儿进行了全基因组测序。这项概念验证研究表明，如何分析在妊娠早期或中期非侵入性获得的样本，以获得胎儿高度准确且基本完整的遗传特征，包括遗传和新生变异。在这里，我们从临床角度重新审视我们的原始研究，提供科学方法概述，并描述在向非侵入性胎儿全基因组测序的临床应用推进过程中的机遇和挑战。
