Prenatal maternal biomarkers for the early diagnosis of congenital malformations: A review

Pediatr Res. 2019 Nov;86(5):560-566. doi: 10.1038/s41390-019-0429-1. Epub 2019 May 15.


Congenital anomalies cause ~7% of all neonatal deaths, many of which have no identified pathophysiological cause. Because accurate and robust laboratory tests are unavailable for most birth defects, physicians rely on imaging such as ultrasound and MRI. Biomarkers from human body fluids are considered a powerful diagnostic tool to assess human disease and health as it mirrors an individual's condition. Minimally invasive 'liquid biopsies' from blood samples are highly valuable for diagnosis, prognosis, risk assessment, and treatment of many conditions. Recent large-scale analysis ('omics') have enabled researchers to identify novel biomarkers in different areas. To accurately facilitate the early detection of congenital anomalies, the identification of biomarkers from maternal plasma should be promoted. This approach will uncover new opportunities in prenatal diagnosing and likely lead to a better understanding of the pathogenesis of congenital anomalies.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Biomarkers / metabolism
  • Body Fluids / metabolism*
  • Congenital Abnormalities / diagnosis*
  • Congenital Abnormalities / metabolism
  • Female
  • Humans
  • Pregnancy
  • Prenatal Diagnosis / methods*


  • Biomarkers