Haak M C, Bartelings M M, Gittenberger-De Groot A C, Van Vugt J M G
Department of Obstetrics and Gynecology, 'Vrije Universiteit " Medical Center, Amsterdam, The Netherlands.
Ultrasound Obstet Gynecol. 2002 Jul;20(1):14-21. doi: 10.1046/j.1469-0705.2002.00739.x.
The aim of this study was to explore the diagnostic accuracy of first-trimester transvaginal echocardiography in fetuses with increased nuchal translucency (NT) thickness, by comparing the ultrasound diagnosis with the findings on postmortem examination or mid-gestational ultrasound and neonatal outcome.
Transvaginal echocardiography was performed in 45 fetuses with a NT > 95th centile. Karyotyping was performed in 43. In 20 of the 23 pregnancies in which termination of pregnancy was carried out, postmortem examination was performed to determine the presence and type of heart defect. Mid-gestational echocardiography was performed in ongoing pregnancies and neonatal follow-up information was obtained. Findings on first-trimester transvaginal echocardiography were compared to those of second-trimester echocardiography or the results of postmortem examination. The mean NT in the fetuses with and without heart defects was calculated.
Of the 45 fetuses, heart malformations were suspected on first-trimester ultrasound in 10 (22%), of which eight (80%) were found to have a chromosomal abnormality. Postmortem examination showed minor additional findings in some cases and major discrepancies occurred in none. Septal defects were the most common defects in trisomic fetuses. In three fetuses with a 45 X karyotype, hypoplastic left heart syndrome was diagnosed. Heart defects were diagnosed in three euploid fetuses in which fetal demise occurred. The sensitivity and specificity for the detection of heart defects of transvaginal echocardiography were 88% and 97%, respectively. The mean NT in fetuses with a normal heart (4.3 mm) was significantly smaller than that of fetuses with heart defects (7.4 mm).
Transvaginal echocardiography can be performed reliably in first-trimester fetuses with an increased NT. In this study, the proportion of chromosomally abnormal fetuses with a heart defect was not different from that found in newborns, except for cases of Turner syndrome. Fetal demise occurred in all three euploid fetuses with a heart malformation. The fetuses with a heart defect had a larger NT than did those without.
本研究旨在通过将超声诊断结果与尸检结果、孕中期超声检查结果及新生儿结局进行比较，探讨孕早期经阴道超声心动图对颈项透明层（NT）增厚胎儿的诊断准确性。
对45例NT大于第95百分位数的胎儿进行经阴道超声心动图检查。对其中43例进行了染色体核型分析。在23例终止妊娠的孕妇中，有20例进行了尸检以确定心脏缺陷的存在和类型。对继续妊娠的孕妇进行了孕中期超声心动图检查，并获取了新生儿随访信息。将孕早期经阴道超声心动图的检查结果与孕中期超声心动图的结果或尸检结果进行比较。计算了有心脏缺陷和无心脏缺陷胎儿的平均NT值。
在45例胎儿中，孕早期超声检查怀疑有心脏畸形的有10例（22%），其中8例（80%）被发现有染色体异常。尸检在某些病例中显示有轻微的其他发现，但未出现重大差异。房间隔缺损是三体胎儿中最常见的缺陷。在3例核型为45,X的胎儿中，诊断为左心发育不全综合征。在3例发生胎儿死亡的整倍体胎儿中诊断出心脏缺陷。经阴道超声心动图检测心脏缺陷的敏感性和特异性分别为88%和97%。心脏正常的胎儿平均NT值（4.3 mm）明显小于有心脏缺陷的胎儿（7.4 mm）。
对于NT增厚的孕早期胎儿，经阴道超声心动图检查可可靠进行。在本研究中，除特纳综合征外，有心脏缺陷的染色体异常胎儿的比例与新生儿中的比例无差异。所有3例有心脏畸形的整倍体胎儿均发生了胎儿死亡。有心脏缺陷的胎儿NT值比无心脏缺陷的胎儿大。
