Wrede Elisabeth, Knippel Alexander Johannes, Verde Pablo Emilio, Hammer Ruediger, Kozlowski Peter
Praenatal-Medizin und Genetik, Düsseldorf, Kozlowski und Partner- Fachärzte für Gynäkologie und Humangenetik, Düsseldorf, Germany.
Koordinierungszentrum für klinische Studien, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany.
Ultrasound Int Open. 2019 Nov;5(3):E98-E106. doi: 10.1055/a-1118-3974. Epub 2020 Mar 9.
To investigate the clinical relevance of an isolated echogenic cardiac focus (iECF) as a marker for trisomy 21 using a large second-trimester collective including a low-risk subgroup. We retrospectively evaluated 1 25 211 pregnancies from 2000-2016 and analyzed all iECF cases with regard to chromosomal anomalies. It consisted of an early second-trimester collective from 14+0-17+6 weeks (n=34 791) and a second-trimester anomaly scan collective from 18+0-21+6 weeks. Two a priori risk subgroups (high and low risk) of the latter were built based on maternal age and previous screening test results using a cut-off of 1:300. Likelihood ratios (LR) of iECF for the detection of trisomy 21, trisomy 13, trisomy 18 and structural chromosomal anomalies were estimated. In total, 1 04 001 patients were included. An iECF was found in 4416 of 1 02 847 euploid fetuses (4.29%) and in 64 of 557 cases with trisomy 21 (11.49%) giving a positive LR of 2.68 (CI: 2.12-3.2). The sensitivity was 11.5% at a false-positive rate of 4.29% (CI:4.17-4.42) with p≤0.01%. In the high-and low-risk subgroups, the prevalence of iECF was comparable: 5.08% vs. 5.05%. The frequency of trisomy 21 was 0.39%, 98/24 979 vs 0.16%, 69/44 103. LR+was 3.86 (2.43-5.14) and 2.59 (1.05-4). For both subgroups the association of iECF with trisomy 21 was statistically significant. The prevalence of structural chromosomal anomalies in the second-trimester anomaly scan collective was 0.08% (52/68 967), of which 2 showed an iECF. The detection of an iECF at the time of 14+0-21+6 weeks significantly increases the risk for trisomy 21 in the high-risk and in the low-risk subgroups and does not statistically change the risks for trisomy 13/18 or structural abnormalitie.
为了使用包括低风险亚组在内的大量孕中期人群，研究孤立性心脏强回声光斑（iECF）作为21三体综合征标志物的临床相关性。我们回顾性评估了2000年至2016年的125211例妊娠，并分析了所有iECF病例的染色体异常情况。它包括一个孕中期早期人群（孕14⁺⁰至17⁺⁶周，n = 34791）和一个孕中期异常扫描人群（孕18⁺⁰至21⁺⁶周）。根据孕妇年龄和先前的筛查试验结果，以1:300为临界值构建了后者的两个先验风险亚组（高风险和低风险）。估计了iECF对检测21三体综合征、13三体综合征、18三体综合征和结构性染色体异常的似然比（LR）。总共纳入了104001例患者。在102847例染色体正常的胎儿中有4416例发现了iECF（4.29%），在557例21三体综合征病例中有64例（11.49%）发现了iECF，阳性LR为2.68（CI：2.12 - 3.2）。在假阳性率为4.29%（CI：4.17 - 4.42）时，灵敏度为11.5%，p≤0.01%。在高风险和低风险亚组中，iECF的患病率相当：5.08%对5.05%。21三体综合征的发生率分别为0.39%（98/24979）和0.16%（69/44103）。LR⁺分别为3.86（2.43 - 5.14）和2.59（1.05 - 4）。对于两个亚组，iECF与21三体综合征的关联均具有统计学意义。孕中期异常扫描人群中结构性染色体异常的患病率为0.08%（52/68967），其中2例显示有iECF。在孕14⁺⁰至21⁺⁶周时检测到iECF会显著增加高风险和低风险亚组中21三体综合征的风险，并且在统计学上不会改变13/18三体综合征或结构性异常的风险。
