Huggon I C, Ghi T, Cook A C, Zosmer N, Allan L D, Nicolaides K H
The Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.
Ultrasound Obstet Gynecol. 2002 Jul;20(1):22-9. doi: 10.1046/j.1469-0705.2002.00733.x.
An increasing number of patients are presenting at early gestational age as being at high risk for congenital heart disease, as a result of ultrasound screening by nuchal translucency. The feasibility and accuracy of fetal echocardiography was assessed in a series of pregnancies studied before 14 weeks' gestation.
Echocardiography was attempted in 478 fetuses of crown-rump length 40.0-85.0 mm (median, 60.3 mm) with increased nuchal translucency, suspected abnormalities on routine scan or a family history of heart defect. The findings were related to results of autopsy, karyotyping, later scans and postnatal follow-up.
Satisfactory images were obtained transabdominally in 402/478 (84.1%) and transvaginally in a further 13 patients. Cardiac defects were confidently identified in 60 fetuses and abnormalities of uncertain significance (isolated ventricular or great artery disproportion, or tricuspid regurgitation) were observed in a further 49. Defects were suspected in an additional 20 fetuses, and 286 were passed as normal. The karyotype was subsequently demonstrated to be abnormal in 70/286 (24.5%) fetuses with normal echocardiograms, and in 94/129 (72.9%) with abnormal or suspicious cardiac findings. Validation of the scan findings was possible in 241 fetuses. Normal heart structure was confirmed in 204 fetuses, and previously unsuspected cardiac abnormalities revealed in nine. Heart defects were verified in 28 fetuses, but five of these had important additional findings. There were false positive findings in three fetuses.
Fetal echocardiography is feasible prior to 14 weeks' gestation. Cardiac defects, when present, may be identified or suspected in the majority of cases. In the risk group studied, heart defects were frequently a manifestation of chromosomal abnormality.
由于通过颈部透明带超声筛查，越来越多的早孕患者被发现有先天性心脏病的高风险。本研究评估了在妊娠14周前进行的一系列妊娠中胎儿超声心动图检查的可行性和准确性。
对478例头臀长40.0 - 85.0 mm（中位数为60.3 mm）的胎儿进行超声心动图检查，这些胎儿颈部透明带增厚、常规扫描怀疑有异常或有心脏缺陷家族史。检查结果与尸检、染色体核型分析、后续扫描及产后随访结果相关。
402/478例（84.1%）经腹部获得了满意图像，另有13例经阴道获得满意图像。60例胎儿被明确诊断为心脏缺陷，另有49例观察到意义不确定的异常（孤立性心室或大动脉比例失调，或三尖瓣反流）。另外20例胎儿怀疑有缺陷，286例检查结果正常。随后发现，在超声心动图检查正常的286例胎儿中，70例（24.5%）染色体核型异常；在心脏检查结果异常或可疑的129例胎儿中，94例（72.9%）染色体核型异常。241例胎儿的扫描结果得到了验证。204例胎儿心脏结构正常，9例发现了之前未怀疑的心脏异常。28例胎儿心脏缺陷得到证实，但其中5例有其他重要发现。3例胎儿有假阳性结果。
妊娠14周前进行胎儿超声心动图检查是可行的。大多数情况下，若存在心脏缺陷，可被识别或怀疑。在所研究的风险组中，心脏缺陷常是染色体异常的表现。
