孕11⁺⁰至13⁺⁶周时三尖瓣反流在21-三体、18-三体、13-三体及特纳综合征筛查中的应用

Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11+0 to 13+6 weeks of gestation.

作者信息

Kagan K O, Valencia C, Livanos P, Wright D, Nicolaides K H

机构信息

Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.

出版信息

Ultrasound Obstet Gynecol. 2009 Jan;33(1):18-22. doi: 10.1002/uog.6264.

DOI:10.1002/uog.6264

PMID:19031473

Abstract

OBJECTIVE

To investigate the performance of first-trimester screening for aneuploidies by including assessment of tricuspid blood flow in the combined test of maternal age, fetal nuchal translucency (NT) thickness, fetal heart rate (FHR) and serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein A (PAPP-A).

METHOD

Screening by the combined test was performed in singleton pregnancies, including 19 614 with chromosomally normal fetuses or the delivery of a phenotypically normal baby (euploid group), 122 with trisomy 21, 36 with trisomy 18, 20 with trisomy 13 and eight with Turner syndrome. In all cases tricuspid flow was assessed to determine if there was tricuspid regurgitation. We examined the performance of two screening strategies: firstly, assessment of tricuspid flow in all patients and secondly, first-stage screening using the combined test in all patients followed by second-stage assessment of tricuspid flow only in those with an intermediate risk of 1 in 51 to 1 in 1000 after the first stage.

RESULTS

Tricuspid regurgitation was observed in 0.9% of the euploid fetuses and 55.7%, 33.3% and 30% of the fetuses with trisomies 21, 18 and 13, respectively, and in 37.5% of those with Turner syndrome. In a screening policy based on maternal age, fetal NT, FHR, serum free beta-hCG and PAPP-A, for a fixed false positive rate of 3% the standardized detection rates were 91% for trisomy 21 and 100% for trisomy 18, trisomy 13 and Turner syndrome. Assessment of tricuspid flow in all pregnancies would increase the detection rate of trisomy 21 to 96%, and the detection rates of trisomy 18, trisomy 13 and Turner syndrome would be 92%, 100% and 100%, respectively. The same detection rates were achieved with the two-stage strategy-in which it was necessary to assess tricuspid flow in only 15% of the total population-at a false positive rate of 2.4%.

CONCLUSIONS

Assessment of tricuspid flow improves the performance of first-trimester screening for trisomy 21.

摘要

目的

通过在孕妇年龄、胎儿颈部透明带（NT）厚度、胎儿心率（FHR）、血清游离β-人绒毛膜促性腺激素（β-hCG）和妊娠相关血浆蛋白A（PAPP-A）联合检测中纳入三尖瓣血流评估，研究孕早期非整倍体筛查的性能。

方法

对单胎妊娠进行联合检测筛查，其中包括19614例胎儿染色体正常或分娩出表型正常婴儿的孕妇（整倍体组），122例21三体孕妇，36例18三体孕妇，20例13三体孕妇以及8例特纳综合征孕妇。在所有病例中评估三尖瓣血流以确定是否存在三尖瓣反流。我们研究了两种筛查策略的性能：第一，对所有患者进行三尖瓣血流评估；第二，对所有患者先使用联合检测进行第一阶段筛查，然后仅对第一阶段中风险为1/51至1/1000的那些患者进行第二阶段三尖瓣血流评估。

结果

整倍体胎儿中0.9%观察到三尖瓣反流，21三体、18三体和13三体胎儿中分别有55.7%、33.3%和30%观察到三尖瓣反流，特纳综合征患者中有37.5%观察到三尖瓣反流。在基于孕妇年龄、胎儿NT、FHR、血清游离β-hCG和PAPP-A的筛查策略中，对于固定的3%假阳性率，21三体的标准化检测率为91%，18三体、13三体和特纳综合征的标准化检测率为100%。对所有妊娠进行三尖瓣血流评估会使21三体的检测率提高到96%，18三体、13三体和特纳综合征的检测率分别为92%、100%和100%。两阶段策略在2.4%的假阳性率下也能达到相同的检测率，且该策略仅需对15%的总人群进行三尖瓣血流评估。