PIWI-interacting RNA sequencing profiles in maternal plasma-derived exosomes reveal novel non-invasive prenatal biomarkers for the early diagnosis of nonsyndromic cleft lip and palate

• DOI: 10.1016/j.ebiom.2021.103253
• Publication Date: 2021-02-24T23:25:45Z
• Authors: Shanshan Jia; Qiang Zhang; Yu Wang; Yanfu Wang; Dan Liu; Yiwen He; Xiaowei Wei; Hui Gu; Wei Ma; Wenting Luo; Zhengwei Yuan
• Keywords: Piwi-interacting RNA; Neural tube defect

Congenital malformations are common birth defects with high neonatal morbidity and mortality. It is essential to find simpler more efficient biomarkers for early prenatal diagnosis. Therefore, we investigated PIWI-interacting RNAs (piRNAs) as potential in plasma-derived exosomes from pregnant women carrying foetuses congenital malformations.Small RNA sequencing was used screen piRNA of five nonsyndromic cleft lip palate (nsCLP) normal foetuses. Differentially expressed piRNAs were verified 270 women, including 111 paired (at 24 gestational weeks), 10 nsCLP 15-19 28 at different stages pregnancy. also placentas, umbilical cords, fetal medial calf muscles, tissues foetuses.We identified a biomarker panel three pregnancy-associated exosomal (hsa-piR-009228, hsa-piR-016659, hsa-piR-020496) could distinguish These had better diagnostic accuracy the stage, which time typical not detected upon ultrasound screening, value neural tube (NTDs) heart (CHDs).Our work revealed clinical applications predicting nsCLP, NTDs, CHDs.National Key Research Development Program, National Natural Science Foundation China, LiaoNing Revitalization Talents Program .