中国实用妇科与产科杂志2026，Vol.42Issue(2)：145-150,6.DOI:10.19538/j.fk2026020105
无创时代,唐氏综合征筛查该废弃吗?
In the era of non-invasive testing,should Down's syndrome screening be abandoned?
摘要
Abstract
As the most common chromosomal aneuploidy in newborns,the patients with Down's syndrome,also referred to as trisomy 21,have clinical manifestations such as intellectual disability,growth retardation,and multiple organ malformations,requiring long-term medical intervention and social support,which brings heavy psychological pressure and economic burden to families and society.Trisomy 18 and trisomy 13 were the second and third most common chromosomal aneuploidies in live births after trisomy 21.Infants with trisomies 18 and 13 often present with extensive structural abnormalities and usually die within days to weeks after birth.There is no cure for the syndrome caused by chromosome aneuploidy at present,so it is particularly important to prevent the birth of children through effective screening and diagnosis.In recent decades,prenatal screening methods for chromosomal aneuploidies,with Down's syndrome as the main one,have been developed and updated.At present,the widely implemented screening methods include combined screening of comprehensive ultrasound and serological markers,and NIPT technology which provides cell-free fetal DNA in maternal blood,has emerged in recent years.NIPT has gradually become the first-line recommended screening strategy for Down's syndrome due to its superior screening efficiency for chromosome aneuploidies.Although serological screening is not as good as NIPT in the detection of chromosomal aneuploidies,it still has its important role in the screening for birth defects considering the screening scope,technical difficulty and cost.关键词
唐氏综合征/血清学筛查/无创产前筛查Key words
Down's syndrome/serological screening/noninvasive prenatal testing(NIPT)分类
医药卫生引用本文复制引用
刘俊涛..无创时代,唐氏综合征筛查该废弃吗?[J].中国实用妇科与产科杂志,2026,42(2):145-150,6.基金项目
国家重点研发计划(2024YFC2707000) National Key Research and Development Program(2024YFC2707000) （2024YFC2707000）
