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


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.

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We thank Clara Moy Tam for her help with the figures. R.K. holds the Thorlakson Chair in Surgical Research that supported this work.

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The authors declare no competing interests.

Correspondence to Richard Keijzer.

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