2015年3月11日 讯/生物谷BIOON/ --美国Sequenom公司长期以来一直依靠其无创性产前诊断来驱动增长和规模扩增。但如今，该公司推出了全新产品MaterniT21，该产品能够测试孕妇患癌的情况。这一潜在的改变将使Sequenom扩张其市场范围。
这个位于加州圣地亚哥的公司表示，MaterniT21通过检测孕妇外周血样本可以实现同时对胎儿的异常情况进行扫描，并在40位孕妇中准确检出26例异常改变。来自于Sequenom和其它产前诊断的公司如Natera, Illumina以及罗氏都用测序的技术扫描母亲DNA和从胎盘分泌的胎儿DNA来确定胎儿的异常，比如唐氏综合症。肿瘤细胞同样将它的DNA释放到血液中，通过检测可以识别出相应癌症的异常。
Sequenom公司的首席科技官Dirk Van den Boom博士说，Sequenom仍然一直在收集提示异常病变的孕妇的数据，并且未发现任何假阳性的结果。但是这项检测也带来了伦理学的问题，如Sequenom正在考虑在检测之前是否告诉孕妇MaterniT21可以识别癌症。Van den Boom表示，公司一直对如何处理结果有所纠结，但还是倾向于对信息进行披露。
科学家们在对孕妇癌症的诊断方面取得进展。比利时鲁文大学的研究者开发了一种通过血液对与孕妇霍奇金淋巴瘤进行检测。美国塔夫斯大学的Diana Bianchi博士讲到无创产前检测代表了如今基因组医学在临床上的最大的体现，从2011年开始超过百万的孕妇接受了检测。
同时，Sequenom将继续推进其在无创产前诊断的技术，并利用市场寻求资金，预期在今后6年时间内在2019年可达到36亿美金。今年1月，公司将与Cypher Genomics合作开发一种利用Cypher先进的基因组印记筛查技术的无创产前诊断的检测方法。新工具将在母亲血液中筛查与胎儿亚染色体变异相关的DNA，从而更好的发现胎儿基因异常。
生物谷推荐英文原文报道：
Sequenom's noninvasive prenatal diagnostic uncovers signs of cancer in 40 women
Sequenom ($SQNM) has long depended on its noninvasive prenatal diagnostic test to drive growth and fuel expansion. But now, the company unveiled new results which show that its MaterniT21 test can detect signs of cancer in pregnant women, a potential game-changer as Sequenom looks to expand its market reach.
The San Diego, CA-based company said that MaterniT21, which uses a maternal blood sample to screen for fetal abnormalities, identified changes abnormal changes in 40 women yielded accurate results in 26 cases, Reuters reports. Tests from Sequenom and other prenatal diagnostic companies such as Natera, Illumina ($ILMN) and recent Roche ($RHHBY) buyout Ariosa use sequencing technology to scan the mother's DNA and fetal DNA from the placenta, identifying fetal abnormalities such as Down's Syndrome. But as tumors shed their DNA into the bloodstream, the tools could also pick up on abnormalities that signify cancer.
Sequenom is still gathering data on women whose tests indicated abnormalities and is not aware of any false positive results, Dr. Dirk Van den Boom, the company's chief scientific officer, told Reuters. But the tests are also raising ethical concerns, as Sequenom is weighing whether or not to tell women before they are screened that MaterniT21 could identify cancer. Van den Boom said the company has struggled about what to do with results, but favors disclosing the information. Scientists are making headway on prenatal tests that can screen pregnant women for signs of cancer. Researchers at the University of Leuven in Belgium developed a blood test that can pinpoint Hodgkin's lymphoma after uncovering the illness in pregnant women. And Dr. Diana Bianchi of Tufts University told Reuters that noninvasive prenatal tests represent "the biggest clinical implementation of genomic medicine to date," with more than 1 million having been performed since 2011.
Meanwhile, Sequenom continues to forge ahead with its noninvasive prenatal diagnostic technology, looking to cash in on a market estimated to triple over the next 6 years to $3.6 billion in 2019. In January, the company said it would team up with Cypher Genomics to develop a noninvasive prenatal test using Cypher's advanced genome interpretation screening technology. The new tool will screen relevant fetal subchromosomal DNA variants in maternal blood to better uncover genetic abnormalities in the fetus.