Objective To evaluate the clinical value of maternal serum screening test and prenatal ultrasound for prenatal detection of triploidy. Methods The maternal serum screening findings and prenatal sonagraphic features of 5 cases of triploidy were retrospectively reviewed from April 2004 to June 2010. Results Fetal chromosomal analysis showed 4 cases for 69 , XXX and 1 for 69 , XXY. Compared with normal pregnancy , maternal serum screening markers demonstrated that 69 , XXX triploidy was identified by very low levels of free β-hCG, ΜE3 and PAPP-A., however ,69 , XXY triploidy was characterized by extremely high level of free β-hCG. Abnormal sonographic findings presenting with anomalies of placenta were found in all 5 cases. Ultrasound examination detected 4 cases of digynic triploid fetus presented with asymmetric fetal growth restriction ( FGR ) , small placenta ( 3 cases ) and membranaceous placenta ( 1 case ) , however, 1 case of diandric triploid fetus presented with partial hydatidiform mole . In addition, 5 cases of triploidy fetus had many other structural defects , such as hands abnormalities and heart defects . Conclusion The beneficial effect of combined maternal serum screening test and prenatal ultrasound is the high detection rate of fetuses with triploidy.%目的 探讨母体血清学唐氏筛查和产前超声检查在发现三倍体胎儿的临床应用价值.方法 对我院2004年4月至2010年6月产前诊断的5例三倍体胎儿母体唐氏血清筛查指标和产前超声表现特征进行总结分析.结果 (1)胎儿染色体核型分析:5例三倍体胎儿中4例染色体核型为69,XXX,1例染色体核型为69,XXY.(2)母体血清学唐氏筛查结果:4例染色体核型为69,XXX三倍体胎儿母体血清游离-绒毛膜促性腺激素β亚单位(free β-hCG)、非结合雌三醇(μE3)、妊娠相关血浆蛋白A(PAPP- A)均明显低于同孕期正常妊娠孕妇;而1例染色体核型为69,XXY三倍体胎儿母体血清指标表现为free β-hCG极高.(3)产前超声表现:5例胎儿超声均表现异常,4例母源性三倍体胎儿表现为不对称性胎儿宫内生长受限(FGR),其中3例小胎盘,1例膜状胎盘,1例父源性三倍体胎儿胎盘呈部分性葡萄胎改变.(4)5例三倍体胎儿还合并其他畸形,包括手指畸形(2/5)和心脏畸形(2/5).结论 母体血清学唐氏筛查和产前超声联合应用对于三倍体胎儿的检出具有重要临床意义.
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