27例唐氏综合征患儿产前筛查的临床意义

The role of chromosomal abnormality screening on 27 newborn with Down syndrome

目的收集27例血染色体确诊唐氏综合征患儿产妇的产前筛查资料,探讨中期血清三联筛查和妊娠中期超声筛查胎儿唐氏综合征的临床意义。方法回顾性分析2010年至2013年在我院分娩,单胎孕妇在妊娠14＋1~19＋6周行血清三联筛查,在妊娠18＋1~23＋6行超声筛查的孕妇及其新生儿的资料。结果在确诊唐氏综合征的患儿母亲中,产妇年龄大于35岁7例,血清三联筛查3例大于1：380。超声筛查异常8例,其中单发畸形1例,单独超声软标记5例,小于胎龄儿2例。结论建议在对血清三联筛查高危产妇密切随访的同时,应注重超声筛查显示的超声软标记,提高筛查效率,建议对高危产妇积极开展孕早期唐氏筛查。

Objectives：To explore the clinical significance of the triple screening method and fetal sonographic markers during chromosomal abnormality screening. Methods：Collect maternal blood serum triple-marker screening perfomed in normal singleton pregnancies at 14＋1 to 19＋6 weeks and ultrasonography screening for fetal chromosomal trisomy at 18＋1~23＋6 weeks from 2010 to 2013. Results：Karyotype analysis showed that there were 27 Down syndromes. Of them 7 were pregnancies with an expected date of delivery higher than 35 years old. Three Down syndromes were found whose risk rate of Down syndrome were higher than the cut-off value. Eight pregnant women showed ultrasonography abnormalities. Conclusion：Maternal serum biochemistry. and ultrasonography are important in screening fetal chromosomal trisomy. Using combined screening methods can improve the detection of fetal chromosomal trisomy. Screening for Down syndromes in the high danger pregnancies is needed.