摘要
目的通过研究唐氏综合征胎儿的临床特点,探讨唐氏综合征的产前筛查和产前诊断方法。方法回顾性分析我院产科4年来42例经染色体诊断为唐氏综合征的病例临床资料。结果42例孕妇其中高龄产妇20例,单纯因高龄行染色体检查12例,超声诊断畸形3例,超声异常5例。年龄小于35岁22例,其中唐氏征筛查高危8例,超声异常2例,畸形10例,超声异常伴有唐氏征筛查高危1例,1例孕期无异常发现,分娩后证实。40例患者中6例继续妊娠者,1例拒绝随访,1例发生胎死宫内,3例存活并发生胎儿宫内发育受限,1例臀位分娩生后证实。结论高龄孕妇进行染色体检查是必要的,超声检查对于唐氏综合征的筛查具有重要的指导意义,NT增厚的患者积极建议进行产前诊断。对于胎儿可治疗的畸形要求继续妊娠者需要积极除外染色体疾病的风险。对于临床晚期出现的宫内发育受限的患者亦要高度警惕发生染色体异常的风险。
Objective： To analysis the clinic features of pregnant women with the Down＇s syndrome fetus and to discuss the prenatal screening and prenatal diagnosis methods. Methods： the clinic documents of 42 cases were reviewed, which were diagnosed by karyotype analysis. Results ： 20 of the 42 cases are older than 35 years old pregnancy women （ elder pregnancy group） , 3 were detected by the ultrasound with malformation, 5 of them with some abnormal signs. The other 22 case （ young pregnancy group） , 8 of them only detected by serum screening, 10 were detected by the ultrasound with malformation, 2 of them with some abnormal signs. 1 was low risk and no abnomal signs was detected. Totally 6 of them were not end the pregnancy, one refused to followup, 1 occurred fetsl death intrauterine, 3 with fetal growth restriction, 1 delivered with breech presentation. Conclusions ： Eleder pregnancy women need Prenatal Diagnosis ; the ultrasound scan play a important role in the diagnosis of chromosome abnormal fetus, it should be done for the with abnormal fetus who want to continuous pregnancy. We should pay more attention to the pregnancy women with fetal growth restriction.
出处
《中国优生与遗传杂志》
2010年第3期59-61,共3页
Chinese Journal of Birth Health & Heredity
关键词
唐氏综合征
产前诊断
胎儿生长受限
超声筛查
Down＇s syndrome
Prenatal Diagnosis
Fetal growth restriction
Ultrasound scan
