期刊
EBIOMEDICINE
卷 65, 期 -, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.ebiom.2021.103253
关键词
Biomarker; Congenital heart defect; Neural tube defect; Nonsyndromic cleft lip and palate; PIWI-interacting RNA; Prenatal diagnosis
资金
- National Key Research and Development Program [2016YFC1000505]
- National Natural Science Foundation of China [81871219, 81671469]
- LiaoNing Revitalization Talents Program [XLYC1902099]
This study identified a panel of three pregnancy-associated exosomal piRNAs that can distinguish foetuses with nonsyndromic cleft lip and palate from normal foetuses. These piRNAs showed better diagnostic accuracy in early gestational stages and had diagnostic value for neural tube defects and congenital heart defects. These findings suggest the potential clinical applications of piRNAs in predicting specific congenital malformations.
Background: Congenital malformations are common birth defects with high neonatal morbidity and mortality. It is essential to find simpler and more efficient biomarkers for early prenatal diagnosis. Therefore, we investigated PIWI-interacting RNAs (piRNAs) as potential prenatal biomarkers in plasma-derived exosomes from pregnant women carrying foetuses with congenital malformations. Methods: Small RNA sequencing was used to screen piRNA biomarkers in plasma-derived exosomes of five pregnant women carrying foetuses with nonsyndromic cleft lip and palate (nsCLP) and five women carrying normal foetuses. Differentially expressed piRNAs were verified in 270 pregnant women, including 111 paired women carrying foetuses with congenital malformations and normal foetuses (at 24 gestational weeks), 10 paired women carrying foetuses with nsCLP and normal foetuses (at 15-19 gestational weeks), and 28 women at different stages of normal pregnancy. piRNA biomarkers were also verified in placentas, umbilical cords, fetal medial calf muscles, and lip tissues of nsCLP and normal foetuses. Findings: We identified a biomarker panel of three pregnancy-associated exosomal piRNAs (hsa-piR-009228, hsa-piR-016659, and hsa-piR-020496) could distinguish nsCLP foetuses from normal foetuses. These three piRNAs had better diagnostic accuracy for nsCLP at the early gestational stage, at which time typical malformations were not detected upon prenatal ultrasound screening, and had diagnostic value for neural tube defects (NTDs) and congenital heart defects (CHDs). Interpretation: Our work revealed the potential clinical applications of piRNAs for predicting nsCLP, NTDs, and CHDs. (C) 2021 The Authors. Published by Elsevier B.V.
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