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Abstract To analyze the value of the detections of maternal serological and free fetal mRNA in maternal blood for prenatal screening of trisomy 21. Methods: The clinical data of 30 singleton pregnant women diagnosed with trisomy 21 syndrome (in study group) and 60 singleton pregnant women with normal fetuses (in control group) during prenatal screening from April 2016 to October 2017 were collected retrospectively. The detections of maternal serological and free fetal mRNA in maternal blood of the women in the two groups were performed. The efficiency of the detections of maternal serological and free fetal mRNA in maternal blood for prenatal screening of trisomy 21 syndrome was analyzed. Results: The Mom values of serum alpha fetoprotein and free estriol of the women in the study group were significant lower than those of the women in the control group, while the chorionic gonadotropin Mom value of the women in the study group was significant higher (P＜0.05). HPL gene, β-HCG gene, TFPI2 gene, and PLAC4 gene of the women in both groups were detected, and which detection rate had no significant different between the two groups (P＞0.05). The mRNA expression levels of HPL gene, β-HCG gene, and PLAC4 gene of the women in the study group were significant higher than those of the women in the control group (P＜0.05), but the TFPI2 mRNA expression level of the women had no significant different between the two groups (P＞0.05). There was no significant difference in AUC value (0.894 vs. 0.927) between the detection of fetal free mRNA in maternal blood and NIPT screening for Trisomy 21 (P＞0.05), but the AUC value of the detection of fetal free mRNA in maternal blood or NIPT screening for Trisomy 21 was significant higher than that (0.815) of the maternal serological detection (P＜0.05). Conclusion: Maternal serological detection and free fetal mRNA detection in maternal blood have high value for prenatal screening of trisomy 21, and the free fetal mRNA detection in maternal blood has higher screening efficacy.
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