J Genet Med.  2016 Dec;13(2):65-71. 10.5734/JGM.2016.13.2.65.

An overview of current knowledge about cell-free RNA in amniotic fluid

  • 1Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul, Korea. chadh001@chamc.co.kr
  • 2Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea.
  • 3Department of Biomedical Science, College of Life Science, CHA University, Seoul, Korea.


Cell-free nucleic acids (cf-NAs) originate in trophoblasts and are detected in the maternal plasma. Using innovative bioinformatic technologies such as next-generation sequencing, cf-NAs in the maternal plasma have been rapidly applied in prenatal genetic screening for fetal aneuploidy. Amniotic fluid is a complex and dynamic fluid that provides growth factors and protection to the fetus. In 2001, the presence of cf-NA in amniotic fluid was reported. Amniotic fluid is in direct contact with the fetus and is derived from fetal urine and maternal and fetal plasma. Therefore, these genetic materials have been suggested to reflect fetal health and provide real-time genetic information regarding fetal development. Recently, several studies evaluated the global gene expression changes of amniot ic fluid cell-free RNA according to gestational age. In addition, by analyzing the transcriptome in the amniotic fluid of fetal aneuploidy, potential key pathways and novel biomarkers for fetal chromosomal aneuploidy were identified. Here, we review the current knowledge of cell-free RNA in amniotic fluid and suggest future research directions.


Amniotic fluid; Transcriptome; Gene expression profiling; Prenatal diagnosis; Fetal development
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