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Cell-free fetal nucleic acids in amniotic fluid
1Mother Infant Research Institute at Tufts Medical Center, Boston, MA 02111, USA. lhui@tuftsmedicalcenter.org
Human Reproduction Update
|October 7, 2010
Summary
Cell-free fetal nucleic acids in amniotic fluid (AF) offer a pure fetal sample. Research in AF reveals insights into fetal development and potential antenatal treatments.
Area of Science:
- Prenatal diagnostics
- Fetal medicine
- Molecular biology
Background:
- Cell-free fetal (cff) nucleic acids are found in maternal plasma and amniotic fluid (AF).
- AF contains higher concentrations of cff DNA than maternal plasma, providing a pure fetal sample.
- Unlike maternal plasma, AF is not significantly contaminated by maternal or trophoblast nucleic acids.
Purpose of the Study:
- To review current knowledge on cff nucleic acids in AF.
- To identify future research directions for cff nucleic acids in AF.
Main Methods:
- A systematic literature search of MEDLINE and PREMEDLINE up to August 2010 was conducted.
- Sixteen original investigations on cell-free RNA or DNA in AF were included in the review.
Main Results:
- AF cff DNA is a distinct pool from maternal plasma cff DNA, with the placenta not being a primary source.
- Sufficient quality and quantity of cff nucleic acids can be isolated from small AF volumes for microarray and pathway analysis.
- Discovery-driven approaches using AF cff nucleic acids have yielded insights into Down syndrome and polyhydramnios pathogenesis.
Conclusions:
- Amniotic fluid supernatant is an under-utilized resource for fetal nucleic acid research.
- Further investigation of cff nucleic acids in AF can advance understanding of fetal development.
- This research may lead to novel antenatal treatments for human diseases.
