早孕期一站式唐氏综合征筛查的应用价值研究  

Research on the Application Value of One-stop Down's Syndrome Screen during First Trimester

作　　者：张淑贞[1] 刘华俭 杨银广[1] 周玉玲[1] 钟春华[1] 袁秀英[1] 

机构地区：[1]东莞市石龙人民医院,523326

出　　处：《中国医药指南》2010年第31期7-9,共3页Guide of China Medicine

摘　　要：目的探讨一站式唐氏综合征筛查方式的价值。方法对孕早期(11～13+6周)孕妇进行"B"超胎儿颈项部透明层厚度(NT)的测定,并当天检验孕妇血液中的妊娠性血浆蛋白A(PAPP-A)和游离β绒毛膜促性腺激素(β-HCG),配合孕妇年龄与孕周,再运用计算机来计算胎儿患有唐氏综合征的概率,随访追踪每例筛查孕妇直至胎儿出生。结果在1421例筛查孕妇中有26例高风险,有21例选择羊膜腔穿刺术行染色体检查,查出唐氏综合征2例,进行引产。1例出生后发现先天性心脏病(染色体无异常)。3例NT严重增厚胎儿,以至胎体呈"外套样"水肿,预后均不良(1例中期自然流产,2例死胎,孕妇均不同意行染色体检查);1395例低风险孕妇(其中16人失访)未发现唐氏综合征,1例有唇裂畸形。结论该项目是无创性检测手段,对筛查唐氏综合征胎儿,减少其出生有重要意义。Objective To discuss the value of one-stop Down’s syndrome screen. Method Firstly, to determine the nuchal translucency thickness （NT） of the fetus by means of B-ultrasonic examination of pregnant women during their first trimester （week 11～13^＋6）, and to examine the pregnancy-associated plasma protein-A （PAPP-A） and free β-Human chorionic gonadotropin （β-HCG） in the blood of the pregnant women on the same day. Secondly, to calculate the probability of having Down’s syndrome of the fetus with a computer, by considering the age of the pregnant women as well as the gestational weeks. Thirdly, to follow up each pregnant woman underwent screening until the birth of the baby. Result 1421 cases of pregnant women underwent screening, 26 cases were at high risk. 21 cases accepted chromosomal examination through amniocentesis. The examination revealed two cases of Down’s syndrome, which were induced. One case was found congenital heart disease （without any chromosomal abnormality） after birth. NTs of three cases had increased greatly, and coat-shaped oedemas were found in the fetuses. Such three cases had poor prognosis （one case underwent spontaneous abortion during second trimester, while two cases were found dead fetus, due to the refusal of chromosomal examination by the pregnant women）. 1395 cases （of which 16 cases were unavailable for follow up） were at low risk, and no Down’s syndrome was found. One case was found cheiloschisis. Conclusion As a non-invasive method, it is of significant importance to screen and reduce the birth rate of fetus with Down’s syndrome.

关 键 词：唐氏综合征 颈项透明层 妊娠性血浆蛋白 Β绒毛膜促性腺激素 

分 类 号：R596.1[医药卫生—内科学]