Lo Y M D
Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong.
BJOG. 2009 Jan;116(2):152-7. doi: 10.1111/j.1471-0528.2008.02010.x.
Fetal nucleic acids in maternal plasma have opened up new possibilities for noninvasive prenatal diagnosis of chromosomal aneuploidies. One approach is based on the measurement of the allelic ratio of single nucleotide polymorphisms in the coding region of placental mRNA. Another approach is through the analysis of DNA fragments with different patterns of DNA methylation between fetal and maternal DNA. One other alternative is to enrich the fractional concentration of fetal DNA in maternal plasma using physical or chemical methods. Finally, the development of more precise digital polymerase chain reaction-based methods for fetal nucleic acid analysis might further catalyse the developments in this area. It is hoped that plasma-based molecular prenatal diagnosis might ultimately make prenatal testing safer for pregnant women and their fetuses.
母血中的胎儿核酸为染色体非整倍体的无创产前诊断开辟了新的可能性。一种方法是基于测量胎盘mRNA编码区单核苷酸多态性的等位基因比率。另一种方法是通过分析胎儿和母亲DNA之间具有不同DNA甲基化模式的DNA片段。还有一种选择是使用物理或化学方法提高母血中胎儿DNA的相对浓度。最后，开发更精确的基于数字聚合酶链反应的胎儿核酸分析方法可能会进一步推动该领域的发展。人们希望基于血浆的分子产前诊断最终能让孕妇及其胎儿的产前检测更安全。
