Transient increase in nuchal translucency thickness and reversed end‐diastolic ducks venosus flow in a fetus with trisomy 18

Abstract

In a twin pregnancy discordant for trisomy 18, the affected fetus at 13 weeks' gestation had an increased nuchal translucency thickness and reversed end-diastolic ductus venosus flow. At 20 weeks' gestation there was no nuchal edema and Doppler study of the central venous vessels demonstrated normal waveforms. The findings support the hypothesis that one of the mechanisms in the development of increased nuchal translucency is temporary cardiac strain.

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

“…Recently, ductus venosus studies have also been reported in first-trimester fetuses 11 . In a previous report we described altered ductus venosus blood flow in a 13-week fetus with enlarged NT, which was subsequently found to have a trisomy 18 karyotype 12 . This observation prompted the design of this study.…”

The role of ductus venosus blood flow assessment in screening for chromosomal abnormalities at 10–16 weeks of gestation

“…This increase of pressure can be transmitted to the venous circulation, with changes in the DV waveform 25 . Transient changes in DV waveform have been noted in chromosomally abnormal fetuses early in pregnancy, with a reversed flow during atrial contraction and a posterior resolution, suggesting a temporary phenomenon 26 . Transient cardiac failure has been involved in the physiology of the NT thickness.…”

Assessment of ductus venosus flow during the first and early second trimesters: what can we expect?

“…Most of the published reports concentrate on the detection of chromosomal abnormalities in combination with or independent from nuchal translucency measurements and have reported sensitivities of between 65 and 90% 1,2,6,7 . The finding of an abnormal ductus venosus waveform and increased nuchal translucency measurement may be transient in chromosomally abnormal fetuses without cardiac malformations 1,8 , indicating a delayed maturation of the cardiovascular system rather than cardiac failure which may occur in fetuses with congenital heart defects. Furthermore, the term 'failure' implies that cardiac function must have been good beforehand, but the opposite seems to be the case.…”