Hashiramoto Shin, Kaneko Mayumi, Takita Hiroko, Yamashita Yuka, Matsuoka Ryu, Sekizawa Akihiko
Department of Obstetrics and Gynecology, Showa University Hospital, Showa University School of Medicine, 1-5-8 Hatanodai, Shinagawa-ku, Tokyo, 142-8666, Japan.
J Med Ultrason (2001). 2025 Jan;52(1):131-138. doi: 10.1007/s10396-024-01505-0. Epub 2024 Nov 1.
Most studies on the performance of first-trimester cardiac screening have concentrated on comparing the detection rate between different protocols and not on the actual reason for false-negative results. Herein, we report the performance of first-trimester congenital heart disease (CHD) screening and factors that may affect the detection rate of CHDs.
This retrospective observational study included patients who underwent first-trimester screening and subsequently gave birth at our facility. We analyzed the performance of first-trimester screening for CHD and major CHD (CHD requiring cardiac surgery or interventional catheterization within 12 months of birth).
Of the 6614 fetuses included, 53 had CHD and 35 had major CHD. For the prenatal diagnosis of CHD, the detection rate, specificity, positive predictive value, negative predictive value, and first-trimester detection rate for CHD were 64.1%, 99.9%, 94.4%, 99.7%, and 82.9%, respectively; the respective values for major CHD were 85.7%, 99.96%, 93.75%, 99.92%, and 85.7%. The detection rate was not significantly different when classified by crown-rump length or number of fetuses. A weak correlation was observed between low detection rate of major CHD and lower maternal body mass index (BMI) (correlation ratio: 0.17). The detection rate was significantly higher when the fetus was scanned with its spine at the 5-7 o'clock position (posterior spine) than at other positions (odds ratio: 3.82, 95% confidence interval: 1.16-12.5, p = 0.02).
Posterior spine contributes to an improved diagnostic rate in first-trimester CHD screening. In addition, sonographers must recognize that low maternal BMI is a risk factor of false-negative results.
大多数关于孕早期心脏筛查性能的研究都集中在比较不同方案之间的检出率，而非假阴性结果的实际原因。在此，我们报告孕早期先天性心脏病（CHD）筛查的性能以及可能影响CHD检出率的因素。
这项回顾性观察研究纳入了在我们机构接受孕早期筛查并随后分娩的患者。我们分析了孕早期CHD及主要CHD（出生后12个月内需进行心脏手术或介入导管治疗的CHD）筛查的性能。
在纳入的6614例胎儿中，53例患有CHD，35例患有主要CHD。对于CHD的产前诊断，CHD的检出率、特异性、阳性预测值、阴性预测值及孕早期检出率分别为64.1%、99.9%、94.4%、99.7%和82.9%；主要CHD的相应值分别为85.7%、99.96%、93.75%、99.92%和85.7%。按头臀长度或胎儿数量分类时，检出率无显著差异。观察到主要CHD低检出率与较低的孕妇体重指数（BMI）之间存在弱相关性（相关系数：0.17）。当胎儿脊柱位于5至7点钟位置（脊柱后位）时进行扫描，检出率显著高于其他位置（优势比：3.82，95%置信区间：1.16 - 12.5，p = 0.02）。
脊柱后位有助于提高孕早期CHD筛查的诊断率。此外，超声检查人员必须认识到孕妇低BMI是假阴性结果的一个危险因素。
