出生缺陷是影响我国出生人口素质和威胁儿童健康的重大问题，遗传因素是导致出生缺陷的重要原因。对于由遗传因素所致的出生缺陷，分子诊断是其筛查、确诊与预防的关键手段。如何在临床开展大规模经济有效的分子诊断与筛查，是我国出生缺陷防治领域的重大挑战。本文将从我国出生缺陷疾病现状、分子诊断技术在出生缺陷防控中的应用及该技术在临床推广所面临的挑战等方面展开述评，以期为出生缺陷分子诊断的临床实践提供参考。 Birth defects are a major problem threatening the health of children in China. Genetic factors play a major role in birth defect etiology. Molecular diagnosis is the key means for screening, diagnosing, and preventing birth defects caused by genetic factors. How to carry out large-scale and cost-effective molecular diagnosis in clinical practice is a major challenge in the prevention and treatment of birth defects in China. This article reviews the current status of birth defects in China, the application of molecular diagnostic technology in birth defect prevention and control, and the challenges in promoting its use, to provide references for clinical practice in birth defect molecular diagnosis.
Current status and reflection on molecular diagnosis of birth defects
Birth defects are a major problem threatening the health of children in China. Genetic factors play a major role in birth defect etiology. Molecular diagnosis is the key means for screening, diagnosing, and preventing birth defects caused by genetic factors. How to carry out large-scale and cost-effective molecular diagnosis in clinical practice is a major challenge in the prevention and treatment of birth defects in China. This article reviews the current status of birth defects in China, the application of molecular diagnostic technology in birth defect prevention and control, and the challenges in promoting its use, to provide references for clinical practice in birth defect molecular diagnosis.
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