PLAC4 mRNA SNP in non-invasive prenatal testing of Down syndrome.

The purpose of this study was to explore the mRNA expression level of in the maternal plasma and the clinical value of its single nucleotide polymorphism (SNP) rs8130833 in non-invasive prenatal testing (NIPT) of Down syndrome. 40 pregnant women were collected in Tianjin Medical University General Hospital from January 2014 to December 2015. Amniotic puncture karyotype analysis was adapted to determine whether the fetuses with Down syndrome (DS) or not. 20 fetuses were diagnosed with Down syndrome and recorded as the DS group, and 20 fetuses were normal and recorded as the control group. Quantitative reverse transcription-PCR (qRT-PCR) was used to detect the mRNA expression level of both in the whole blood and plasma of pregnant women. A/G polymorphism of rs8130833 was analyzed by pyrosequencing method using the cell-free fetal RNA (cff RNA) in maternal circulation. The mRNA expression level of in DS group was higher than the control group, but the difference was not statistically significant (P > 0.05). A/G polymorphism of rs8130833 was about 2:1 in DS group, and it was nearly 1:1 in control group. The mRNA SNP (rs8130833) has a certain value of research and application in NIPT of DS.