Zhong Xiao Yan, Holzgreve Wolfgang
Laboratory for Prenatal Medicine and Gynaecological Oncology, University Women's Hospital /Department Research, University of Basel, Switzerland.
Transfus Med Hemother. 2009;36(4):263-272. doi: 10.1159/000223098. Epub 2009 Jun 25.
Prenatal diagnosis aims either to provide the reassurance to the couples at risk of having an affected child by timely appropriate therapy or to give the parents a chance to decide the fate of the unborn babies with health problems. Invasive prenatal diagnosis (IPD) is accurate, however, carrying a risk of miscarriage. Non-invasive prenatal diagnosis (NIPD) has been developed based on the existing of fetal genetic materials in maternal circulation; however, a minority fetal DNA in majority maternal background DNA hinders the detections of fetal traits. Different protocols and assays, such as homogenous MassEXTEND (hME), single allele base extension reaction (SABER), precise measuring copy number variation of each allele, and quantitative methylation and expression analysis using the high-throughput sensitive matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS), allow NIPD for single gene disorders, fetal blood group genotyping and fetal aneuploidies as well as the development of fetal gender-independent biomarkers in maternal circulation for management of pathological pregnancies. In this review, we summarise the use of MALDI-TOF MS in prenatal genomics.
产前诊断的目的要么是通过及时适当的治疗为有生育患病子女风险的夫妇提供安心保障，要么是给父母一个机会来决定有健康问题的未出生婴儿的命运。侵入性产前诊断（IPD）准确无误，但存在流产风险。非侵入性产前诊断（NIPD）是基于母体循环中存在胎儿遗传物质而发展起来的；然而，在大量母体背景DNA中少量的胎儿DNA阻碍了胎儿特征的检测。不同的方案和检测方法，如均相MassEXTEND（hME）、单等位基因碱基延伸反应（SABER）、精确测量每个等位基因的拷贝数变异，以及使用高通量灵敏基质辅助激光解吸/电离飞行时间质谱（MALDI-TOF MS）进行定量甲基化和表达分析，使得NIPD可用于单基因疾病、胎儿血型基因分型和胎儿非整倍体检测，以及在母体循环中开发与胎儿性别无关的生物标志物以管理病理性妊娠。在本综述中，我们总结了MALDI-TOF MS在产前基因组学中的应用。
