Increased nuchal translucency is associated with asphyxiating thoracic dysplasia

Early prenatal sonographic diagnosis and follow‐up of Jeune syndrome

“…Whereas the nuchal translucency could have been more pronounced earlier in pregnancy, the constrictive pressure on the heart caused by the hypoplastic thorax would not have decreased with advancing gestational age. This emphasizes the unexplained origin of the nuchal translucency in the case reported by Ben Ami et al 10 . An enlarged nuchal translucency may be an additional finding in fetuses affected with Jeune syndrome.…”

“…Recently, it was postulated that in a fetus with Jeune syndrome, diagnosed at 22 weeks of gestation, an increased nuchal translucency that was established at 14 weeks was caused by the constrictive pressure on the heart by the hypoplastic thorax 10 . However, in our case the nuchal translucency measured only 1.6 mm at 14 weeks.…”

“…Detection of Jeune syndrome in the second and third trimesters has been reported 3,[10][11][12][13] . We report on the prenatal sonographic diagnosis of Jeune syndrome at as early as 14 weeks of gestation in a fetus at risk for this condition.…”

Congenital lobar emphysema and increased nuchal translucency

“…One case in the first trimester was reported with an increased NT of 3.0 mm 3 . In asphyxiating thoracic dystrophy, there is a narrow chest and rhizomelic limb shortening and one reported case in the first trimester demonstrated an increased NT of 5.8 mm 8 . The finding of congenital lung masses following identification of increased NT in the first trimester requires follow-up to monitor the development of both hydrops, which is the main prognostic factor, and malignancy.…”

Ultrasonographic signs of twin–twin transfusion syndrome in a monoamniotic twin pregnancy

“…

one reported case in the first trimester demonstrated an increased NT of 5.8 mm 8 .The finding of congenital lung masses following identification of increased NT in the first trimester requires follow-up to monitor the development of both hydrops, which is the main prognostic factor, and malignancy. Superior mediastinal compression leading to increased NT may be the consequence of both CCAM and CLE.

…”