Increased fetal nuchal translucency: possible involvement of early cardiac failure

Abstract

The ultrasonographic measurement of nuchal translucency thickness at 10-13 weeks of gestation is accepted as an efficient method of screening for chromosomal abnormalities. However, the underlying mechanism producing increased nuchal translucency thickness is still poorly understood. The purpose of this study was to investigate the possible contribution of impaired cardiac function to such an increase, by studying the venous return in the ductus venosus, using Doppler ultrasound. In a total of 65 fetuses, nuchal translucency thickness was measured at 10-13 weeks of gestation by means of a transvaginal probe. Color-coded and pulsed Doppler ultrasound were also used to evaluate different hemodynamic parameters in the ductus venosus: maximum systolic and diastolic velocities, pulsatility index, lowest forward velocity during atrial contraction and fetal heart rate. Fetal nuchal translucency thickness of > or = 3 mm was found in 17 cases; in five of them there were chromosomal anomalies: four trisomy 21 and one trisomy 18. Of interest is the finding that in the five chromosomally abnormal fetuses with increased nuchal translucency thickness, the forward velocity during atrial contraction was consistently less than 2 cm/s (p < 0.001). This impairment of atrial contraction may well implicate cardiac failure and/or heart defects in the pathogenesis of increased nuchal translucency thickness in the first trimester of pregnancy. Furthermore, nuchal translucency may prove to be a sensitive marker for the early identification of fetal cardiac anomalies.

Ductus venosus studies in fetuses at high risk for chromosomal or heart abnormalities: relationship with nuchal translucency measurement and fetal outcome

“…This observation prompted the design of this study. In the meantime other studies have confirmed that, in some first and early second-trimester chromosomally abnormal fetuses, alterations of ductus venosus FVWs similar to those described in intrauterine growth-restricted (IUGR) fetuses can be observed in association with an enlarged NT [13][14][15] .…”

Nuchal translucency in fetuses affected by homozygous α‐thalassemia‐1 at 12–13 weeks of gestation

“…These fetuses also had increased cardiac mRNA expression of atrial natriuretic peptide and brain natriuretic peptide 5 , indirectly suggesting the presence of cardiac failure. Further evidence of cardiac strain as a cause of increased NT was provided by a Doppler study of the ductus venosus in 65 fetuses 6 . Impaired atrial contraction was found in all five trisomic fetuses with increased NT, but not in the normal fetuses 6 .…”

“…Further evidence of cardiac strain as a cause of increased NT was provided by a Doppler study of the ductus venosus in 65 fetuses 6 . Impaired atrial contraction was found in all five trisomic fetuses with increased NT, but not in the normal fetuses 6 . At 12-13 weeks, all the fetuses affected by homozygous α-thalassemia-1 show cardiac enlargement 3 .…”

“…We have shown previously that all the affected fetuses have cardiac enlargement at 12-13 weeks 3 , but only 7% will manifest hydropic changes at this gestation 4 . Recently, studies of cardiac gene expression of atrial natriuretic peptide and brain natriuretic peptide 5 and Doppler study of the ductus venosus 6 in trisomic fetuses suggested that their increased nuchal translucency (NT) may be the consequence of cardiac strain. We investigated whether fetuses affected by homozygous α-thalassemia-1, who have cardiac changes, would show abnormal NT.…”

Diagnosis of an asymptomatic uterine rupture in a twin pregnancy with four‐dimensional ultrasound examination and magnetic resonance imaging

“…The outcome in left isomerism is dependent on the presence of heart block and hydrops, major cardiac malformations 6 and extrahepatic biliary drainage. The mechanism for reversible early fetal decompensation in the present case (early thoracic fluid, increased nuchal translucency, negative a-wave in the ductus venosus) is most likely the result of a temporary right ventricular cardiac failure 7,8 or of a lymphatic disorder, given that the persistence of lateral neck cysts at 15 weeks of gestation were described as a jugular lymphatic distension, where the jugular sacs fail to connect with the jugular veins 9 . Of particular interest in this case was the excellent neonatal outcome following early fetal decompensation.…”