超声筛查胎儿潜在染色体异常指标的结果分析

目的胎儿潜在染色体异常指标与染色体异常相关性的探讨。方法对2009年11月至2011年4月来我院行胎儿超声产前筛查的2540例孕22～32周的胎儿进行回顾性分析,对潜在染色体异常指标的胎儿进行追踪观察至分娩前或出生后。结果胎儿心内强光斑210例,其中合并2例唇裂、1例右室双出口均引产及合并2例室间隔缺损出生后均无染色体异常面容,1例心内强光斑出生后诊断为21-三体儿;肠管强回声10例,合并1例心内膜垫缺损及1例右室双出口均于中孕期引产证实未合并染色体异常面容;肾盂扩张82例,均于出生后未见染色体异常面容;3例股骨短小,其中1例出生后证实为21-三体儿。1例后颅窝池增宽合并双侧唇裂、室间隔缺损,出生后为18-三体。结论胎儿潜在染色体异常指标的存在虽可增加胎儿染色体异常的风险,但需结合孕妇高危因素及生化指标,并追踪观察以降低假阳性率,避免假阴性。

Analysis on the potential fetal chromosomal abnormalities index by ultrasound screening

Objective To discuss the correlation between potential fetal chromosomal abnormalities index and chromosome abnormalities.Methods 2 540 fetuses underwent routine ultrasound screening between 22 and 32 weeks’ gestation from November 2009 to April 2011 were analyzed retrospectively.The fetuses with potential chromosomal abnormalities index were tracked until birth.Results 210 cases of echogenic intracardiac foci(EIF) were detected,including two cases of cleft lip and one case of double outlet right ventricle(DORV) all underwent induced labor,two cases of ventricular septal defect with no chromosome abnormality after birth,as well as one case of echogenic intracardiac foci(EIF) diagnosed as 21-Trisomy syndrome after birth.Ten cases of hyperechogenic bowel,one case of endocardial cushion defect,and one case of double outlet right ventricle(DORV) underwent induced labor during pregnancy and were confirmed not incorporated chromosome abnormality countenance.Eighty-two cases of renal pelvis expansion showed no chromosome abnormality countenance after birth.Three cases of femoral short were detected,including one case confirmed to be 21-Trisomy syndrome after birth.One case of posterior fossa pool widened merger bilateral cleft palate and ventricular septal defect turned to be 18-Trisomy syndrome after birth.Conclusion Though the existence of fetal potential chromosomal abnormalities index increases the risk of fetal chromosome abnormality,it should be combined with the high-risk factors and biochemical indexes of pregnant women as well as track observation to reduce false positives and avoid false negative.