出生缺陷三级预防的实验室检查方法探讨

Discussion of laboratory testing methods of tertiary prevention for birth defects

出生缺陷有3个阶段的预防,分别是孕前、孕期和新生儿期的一、二、三级预防,本文简述出生缺陷病谱和一级预防的相关实验室检查,主要叙述和讨论了串联质谱技术在二、三级预防中用于遗传代谢病的实验室检查方法学,以实验室检查角度为出生缺陷的三级预防工作提供一点技术参考。

There are three level precautions for birth defects,including Primary prevention,Secondary prevention,and tertiary prevention for preconception,pregnancy,and neonatal Period respectively.This paper describes briefly the disease spectrum of birth defects and relevant laboratory test of Primary prevention,mainly describing and discussing tandem mass spectrometry as laboratory testing method for inherited metabolic disorders of Secondary prevention and tertiary prevention.This paper provides a technical reference for the tertiary prevention of birth defects from the perspective of laboratory test.