产前诊断在减少出生缺陷中的价值探讨

目的探讨产前诊断在减少出生缺陷中的价值。方法回顾性分析2012年1月至2013年12月产前诊断孕妇的临床资料。结果40332例孕妇进行早孕期B超筛查及中孕期血清学筛查，其q,2200例做产前诊断。在知情同意的情况下选择羊水染色体或高分辨超声检查，确诊发育缺陷数314例（O．78％），缺陷种类按发病频率依次为多发畸形（16．86／万）、中枢神经系统畸形（15．87／万）、颜面部畸形（10．91／万）。会诊病例中311例及时终止妊娠；其余3例患者采纳会诊意见继续妊娠，产后随访中2例轻度侧脑室扩张患儿积水自然消退、1例单侧肾缺如患儿，预后良好。结论产前诊断作为出生缺陷的Ⅱ级预防，有效避免严重畸形儿的出生，对提高我国人口素质有重要意义。

Objective To investigate the value of prenatal diagnosis in reducing birth defect. Methods We analyzed the clinical data of prenatal screening during January 2012 to December 2013. Results A total of 40332 cases were adopted to ultrasound screening in early pregnancy and serological screening, 2200 cases for prenatal diagnosis. They chose amniotic fluid chromosome examine or high resolution ultrasonic inspection under informed consent. The number of developmental defect was 314 （ 0.78% ） . According- to the frequency of invasion, defect types were multiple malformation （ 0.1686% ） , central nervous system deformity （ 0.1587% ） , facial dysmorphism （ 0.1091% ） .311 cases timely terminated pregnancy in consultation. 3 patients adopted experts opinion to continue the pregnancy. Postpartum follow-up of the women showed that hydrocephalus of two cases with mild ventriculomegaly which later spontaneously disappeared and one child with unilateral agenesis of kidney with eusemia. Conclusion As Ⅱ leve, prevention of birth defects, prenatal diagnosis effectively avoids born of severe oafs, and it has an important significance to improve the population quality in our country.