早期新生儿死亡病因学研究进展

Advances in study on etiology of early neonatal mortality

早期新生儿死亡属于围产儿死亡的一部分,其定义为新生儿出生后0~6天死亡。通常认为男性新生儿、先天异常、早产、低出生体重和5分钟Apgar评分低于7分等是早期新生儿死亡最常见的相关因素。但是仍有相当多的早期新生儿死亡病因不明,其为产科及儿科医务人员比较棘手的问题,也容易引发医患矛盾。近年来发现,除上述常见的病因外,基因缺陷和代谢性疾病在早期新生儿死亡中亦占有相当的比例,而通过全基因测序和串联质谱检测技术,可能对寻找部分既往被归于不明原因早期新生儿死亡病例的病因有一定的帮助。该文就早期新生儿死亡病因及可能机制、病因评估方法等进行综述。

Early neonatal death(END)is a part of perinatal death,which is defined as neonatal death that occure in 0~6 days after birth.Male,congenital abnormalities,preterm birth,low birth weight and the 5-minute Apgar score below 7 are considered the most common factors relating to early neonatal death.However,there are still a considerable number of early neonatal deaths of unknown etiology,which is not only a difficult problem for obstetric and pediatric medical staffs,but also it is easy to cause doctor-patient conflicts.In recent years,a growing number of studies have found that beside these common causes,genetic defects and metabolic diseases also account for a significant proportion of causes of early neonatal deaths.Whole-gene sequencing and tandem mass spectrometry may be helpful in identifying the causes of these early neonatal deaths,which are previously thought to be due to unknown causes.This paper sumarizes causes of early neonatal deaths,their possible mechanisms and identifing methods of the eatiology.