Committee Opinion No. 682 Summary: Microarrays and Next-Generation Sequencing Technology: The Use of Advanced Genetic Diagnostic Tools in Obstetrics and Gynecology.
Committee Opinion No. 682 Summary: Microarrays and Next-Generation Sequencing Technology: The Use of Advanced Genetic Diagnostic Tools in Obstetrics and Gynecology.
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DOI：
10.1097/aog.0000000000001814
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发表时间：
2016-12-01
影响因子：
7.2
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中科院分区：
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在过去的几十年里，基因技术取得了巨大的进步，在产前诊断领域，它在照顾和咨询孕妇方面的应用和使用已经发生了变革。在产前设置的两个较新的遗传技术是染色体微阵列和全外显子组测序。染色体微阵列分析是一种测量整个人类基因组DNA的增益和损失的方法。它可以识别染色体非整倍体和其他染色体结构的大变化，以及亚显微镜下的异常，这些异常太小而无法通过传统方式检测到。产前染色体微阵列分析推荐用于在超声检查中发现胎儿有一个或多个主要结构异常的患者，并且正在进行有创产前诊断。全基因组测序分析整个基因组，包括非编码区（内含子）和编码区（外显子）。然而，由于内含子通常没有什么临床意义，因此一直关注全外显子测序，该测序检测基因组的编码区（外显子）。外显子通常具有更大的临床相关性和对患者护理的适用性。然而，常规使用全基因组或全外显子组测序产前诊断是不推荐在临床试验的背景下。
Genetic technology has advanced dramatically in the past few decades, and its applications and use in caring for and counseling pregnant women has been transformational in the realm of prenatal diagnosis. Two of the newer genetic technologies in the prenatal setting are chromosomal microarray and whole-exome sequencing. Chromosomal microarray analysis is a method of measuring gains and losses of DNA throughout the human genome. It can identify chromosomal aneuploidy and other large changes in the structure of chromosomes as well as submicroscopic abnormalities that are too small to be detected by traditional modalities. Prenatal chromosomal microarray analysis is recommended for a patient with a fetus with one or more major structural abnormalities identified on ultrasonographic examination and who is undergoing invasive prenatal diagnosis. Whole-genome sequencing analyzes the entire genome, including noncoding regions (introns) and coding regions (exons). However, because the introns are typically of little clinical relevance, there has been a focus instead on whole-exome sequencing, which examines the coding regions (exons) of the genome. The exons generally have greater clinical relevance and applicability to patient care. However, the routine use of whole-genome or whole-exome sequencing for prenatal diagnosis is not recommended outside of the context of clinical trials.