妊娠11～13~(+6)周胎儿三尖瓣反流与染色体异常的关系

目的:确定妊娠11～13+6周胎儿三尖瓣返流(TR)与染色体异常的关系。方法:选取产前检查的孕妇共3 100例,于妊娠11～13+6周进行胎儿染色体非整倍体畸形联合筛查孕妇年龄、胎儿颈项透明层厚度(NT)、孕妇血清妊娠相关蛋白A(PAPP-A)和游离β绒毛膜促性腺激素(β-HCG)],同时应用脉冲多普勒检查胎儿三尖瓣血流,三尖瓣返流定义为:返流时相至少占收缩期一半,速度超过80cm/s。筛查高风险的孕妇(风险界值为1∶270)进行侵入性产前诊断(经腹绒毛活检)确定胎儿核型,核型正常及低风险孕妇妊娠22～24周行孕中期胎儿结构畸形系统检查,所有孕妇产后进行随访。结果:接受筛查的3 100例孕妇中共发现26例非整倍体核型异常,其中10例为21-三体、6例为18-三体、1例为13-三体、7例为45X0、1例为47XXY、1例为47XXX,1例为染色体平衡易位t(1;2)(p11.1;11.2);核型正常者中1例胎儿脊柱裂、1例Pierre Rob-in综合征。胎儿核型异常组三尖瓣返流发生率55.6%,核型正常组为2.2%;无论胎儿染色体正常与否,合并心脏畸形者三尖瓣返流发生率为75.4%,而未合并心脏畸形者三尖瓣返流发生率为1.3%。染色体核型正常胎儿,NT<3.5 mm、3.5～4.4 mm、≥4.5 mm 3组胎儿心脏畸形发生率分别为0.7%、20.5%、40.0%。结论:妊娠11～13+6周胎儿三尖瓣返流与21-三体及其他染色体异常密切相关,胎儿三尖瓣返流发生率随NT增厚而增高,胎儿心脏缺陷者三尖瓣返流明显高于无心脏缺陷者,早孕期胎儿三尖瓣血流可作为胎儿染色体非整倍体畸形超声标志物。

The relationship between fetal tricuspid regurgitation at 11 to 13 + 6 week scan and chromosomal defects

Objective:To determine the relationship between fetal tricuspid regurgitation at 11 to 13+6 week scan and chromosomal defects.Methods:A total of 3 100 pregnant women at 11 to 13+6 weeks in our hospital from January 1,2010 to December 31,2010 were chosen and had a combined screening test for chromosome abnormality by maternal age,fetal NT thickness and maternal serum freeβ-human chorionic gonadotropin(β-hCG) and pregnancy associated plasma protein-A(PAPP-A).At the same time,pulsed wave Doppler of flow across the tricuspid valve was carried out.The definition of tricuspid regurgitation was that it had to occupy at least half of systole and reach a velocity of over 80 cm/s.Risk cutoff was 1:270.High-risk pregnant women were performed invasive prenatal diagnosis by transabdominal chorionic villus sampling.Normal karyotype and low risk women would have anomaly scan at 22-24 weeks.All women would be followed up after delivery.Results:① In 3 100 cases of pregnant women,26 cases of chromosome aneuploidy abnormalities were detected,10 cases of 21 trisomy,6 cases of 18 trisomy,1 case of 13 trisomy,7 cases of 45X0,1case of 47XXY,1case of 47XXX.One case was balanced translocation.In chromosomal normal fetuses,1 case of spina bifida and 1 case of Pierre Robin Sequence were detected.② No matter chromosomal normal or not,the prevalence of tricuspid regurgitation in those with cardiac defects was 75.4% and 1.3% in those without cardiac defect.③ In the chromosomally normal fetuses,the prevalence of cardiac defects increased with fetal NT(NT<3.5 mm 0.7%,3.5-4.4 mm 20.5%,≥4.5 mm 40.0%).Conclusion:At 11 to 13+6 week's gestation,there is a high association between tricuspid regurgitation and teisomy 21,as well as other chromosomal defects.The prevalence of tricuspid regurgitation increases with fetal NT thickness and is substantially higher in those with,than those without,a cardiac defect.