Cardiac malformations in first-trimester fetuses with increased nuchal translucency: ultrasound diagnosis and postmortem morphology

Objective 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. Methods 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. Results 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 45X 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). Conclusion 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.