唐氏筛查单项指标MOM值异常与无创产前检测的结果分析  

Analysis of the Abnormal MOM Value of a Single Indicator in Down's Syndrome Screening and the Results of Non invasive Prenatal Testing

作　　者：吴渐芳 梁丽笙[2] 郑智 高维鸿 关景乐 杨发达[1] Wu Jianfang;Liang Lisheng;Zheng Zhi;Gao Weihong;Guan Jingle;Yang Fada(Department of Clinical Laboratory,Nanhai District Maternal and Child Health Hospital of Foshan City,Foshan,Guangdong 528200,China;Prenatal Diagnostic Center,Nanhai District Maternal and Child Health Hospital of Foshan City,Foshan,Guangdong 528200,China)

机构地区：[1]佛山市南海区妇幼保健院检验科,广东佛山528200 [2]佛山市南海区妇幼保健院产前诊断中心,广东佛山528200

出　　处：《中国产前诊断杂志（电子版）》2024年第3期30-35,共6页Chinese Journal of Prenatal Diagnosis(Electronic Version)

基　　金：佛山市卫生健康局医学科研课题(20240210)。

摘　　要：目的 探讨产前筛查唐氏综合征(Down’s syndrome,DS)低风险但MOM值异常的患者进一步行无创产前检测(non-invasive prenatal testing,NIPT)的临床意义。方法 采用时间分辨荧光免疫法检测孕妇早孕期血清中游离绒毛膜促性腺激素(游离β-hCG)和妊娠相关血浆蛋白-A(pregnancy-associated plasma protein-A,PAPP-A),中孕期血清中甲胎蛋白(alpha fetoprotein,AFP)、游离β-hCG和游离雌三醇(uE3)的含量,结合孕妇的个人因素如孕周、年龄、体重、吸烟史、糖尿病史、不良孕产史等信息,经过风险软件LifeCycle计算,追踪唐筛单项指标MOM值异常的孕妇的NIPT结果,NIPT结果异常者进行羊水穿刺,以羊水穿刺结果为金标准,分析其意义。结果 2021年5月至2024年5月接受唐氏筛查检查的孕妇共76048例,唐筛单项指标MOM值异常者4964例(6.5%),其中同意行NIPT检测2846例(57.33%),NIPT结果异常19例(0.67%),NIPT结果异常的孕妇均接受了羊膜腔穿刺术,其中染色体核型分析、短串联重复序列检测技术(short tandem repeat,STR)和染色体微阵列分析(chromosomal microarray analysis,CMA)均正常14例,染色体异常5例,其中检出21三体4例,21号染色体微重复1例,片段大小约4.46MB。结论 唐氏筛查低风险时,单项指标MOM值异常也可筛查出染色体异常的胎儿,医生应充分告知唐氏筛查的局限性,建议其行NIPT检测。虽然唐氏筛查的风险值十分重要,但不能忽视单一血清学标记物自身的检测意义,尤其是PAPP-A MOM低的孕妇,即使胎儿染色体未见异常,也具有较高的不良妊娠发生率,应引起足够重视。Objective Exploring the clinical significance of further non-invasive genetic testing(NIPT) for patients with low-risk Down's syndrome but abnormal MOM values in prenatal screening.Methods Time resolved fluorescence immunoassay was used to detect the levels of free chorionic gonadotropin(free β-hCG) and pregnancy associated plasma protein-A(PAPP-A) in the serum of pregnant women during early pregnancy,as well as the levels of alpha fetoprotein(AFP),free β-hCG,and free estriol(uE3) in the serum of pregnant women during mid pregnancy,combined with the information of pregnant women's personal factors such as gestational week,age,weight,smoking history,diabetes history,adverse pregnancy and childbirth history,and through the calculation of the risk software LifeCycle,the NIPT results of pregnant women with abnormal MOM values in Down's screening single index were tracked.Those with abnormal NIPT results were subjected to amniocentesis,and the amniocentesis results were taken as the gold standard to analyze its significance.Results From May 2021 to May 2024,a total of 76048 pregnant women underwent Down syndrome screening.Among them,4964 cases(6.5%) had abnormal MOM values in the single indicator of Down syndrome screening.Among them,2846 cases(57.33%) agreed to undergo NIPT testing,and 19 cases(0.67%) had abnormal NIPT results.All pregnant women with NIPT abnormalities underwent amniocentesis.Among them,14 cases had normal chromosome karyotyping analysis,short tandem repeat(STR) and chromosomal microarray analysis(CMA),and 5 cases had chromosomal abnormalities,including 4 cases of trisomy 21 and 1 case of microduplication on chromosome 21,with a fragment size of about 4.46MB.Conclusion When screening for low-risk Down syndrome,abnormal MOM values in a single indicator can also screen for fetuses with chromosomal abnormalities.Doctors should fully inform them of the limitations of Down syndrome screening and recommend NIPT testing.Although the risk value of Down syndrome screening is calculated by integrating variou

关 键 词：唐氏综合征 MOM值异常 无创产前检测 

分 类 号：R715.5[医药卫生—妇产科学]