Evaluating
microRNA
‐720 and
microRNA
‐1275 as Noninvasive Specific Test Compared With Maternal Serum Alpha‐Fetoprotein and Three‐Dimensional Ultras
Haitham khaled, Ahmed Abd Almaguid Attia, Mona K. Farag, Hala Abdelwahab, Sameh M. Senousy, Khaled R. Gaber ABSTRACT
Background
Neural tube defects (NTDs) are common congenital anomalies of the central nervous system and are associated with substantial fetal and neonatal morbidity and mortality. Although maternal serum alpha‐fetoprotein (MSAFP) and ultrasonography (US) are routinely used for prenatal screening, small or atypical lesions may be missed. Circulating microRNAs have emerged as promising noninvasive biomarkers in prenatal diagnosis.
Aim
To calibrate the diagnostic utility of circulating microRNA‐720 and microRNA‐1275 for prenatal detection of fetal NTDs and to compare their performance with MSAFP and two‐ and three‐dimensional US.
Methods
This case–control study included 48 pregnant women undergoing second‐trimester screening (15–22 weeks of gestation), divided into 24 cases with fetal NTDs and 24 controls with normal fetuses. All participants underwent detailed two‐ and three‐dimensional US evaluation and MSAFP measurement. Circulating microRNA‐720 and microRNA‐1275 expression levels were quantified using real‐time quantitative polymerase chain reaction, and diagnostic performance was assessed using receiver operating characteristic curve analysis.
Results
MicroRNA‐720 was significantly upregulated and microRNA‐1275 significantly downregulated in NTD‐affected pregnancies compared with controls ( p < 0.001). Both microRNAs showed high diagnostic accuracy. Expression levels varied among NTD subtypes, with the highest microRNA‐720 levels observed in acrania, followed by encephalocele and spina bifida. MSAFP levels were also significantly higher in cases than in controls ( p < 0.001).
Conclusion
Circulating microRNA‐720 and microRNA‐1275 are promising noninvasive biomarkers that provide a molecular layer of validation for fetal NTDs. They may complement established tools by providing additional diagnostic confidence, particularly in cases with borderline biochemical profiles.