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Review
. 2012 Dec;1822(12):1970-80.
doi: 10.1016/j.bbadis.2012.04.005. Epub 2012 Apr 19.

Tracking fetal development through molecular analysis of maternal biofluids

Andrea G Edlow  1 , Diana W Bianchi
Affiliations
Review

Tracking fetal development through molecular analysis of maternal biofluids

Andrea G Edlow et al. Biochim Biophys Acta. 2012 Dec.

Abstract

Current monitoring of fetal development includes fetal ultrasonography, chorionic villus sampling or amniocentesis for chromosome analysis, and maternal serum biochemical screening for analytes associated with aneuploidy and open neural tube defects. Over the last 15 years, significant advances in noninvasive prenatal diagnosis (NIPD) via cell-free fetal (cff) nucleic acids in maternal plasma have resulted in the ability to determine fetal sex, RhD genotype, and aneuploidy. Cff nucleic acids in the maternal circulation originate primarily from the placenta. This contrasts with cff nucleic acids in amniotic fluid, which derive from the fetus, and are present in significantly higher concentrations than in maternal blood. The fetal origin of cff nucleic acids in the amniotic fluid permits the acquisition of real-time information about fetal development and gene expression. This review seeks to provide a comprehensive summary of the molecular analysis of cff nucleic acids in maternal biofluids to elucidate mechanisms of fetal development, physiology, and pathology. This article is part of a Special Issue entitled: Molecular Genetics of Human Reproductive Failure.

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Figures

Fig. 1
Fig. 1
Timeline of major discoveries involving fetal nucleic acids in maternal blood.
See this image and copyright information in PMC

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