Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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An overview of current knowledge about cell-free RNA in amniotic fluid

  • Jung, Yong Wook (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University) ;
  • Shin, Yun Jeong (Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University) ;
  • Shim, Sung Han (Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University) ;
  • Cha, Dong Hyun (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University)
  • Received : 2016.11.09
  • Accepted : 2016.12.08
  • Published : 2016.12.31
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Abstract

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 amniotic 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.

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References

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