Abstract

Abstract Increased nuchal and perinuchal translucency in euploid fetuses can be due to a wide range of congenital malformations, metabolopathies or syndromes. We present a case of transient increased perinuchal fluid accumulation in a euploid female fetus that showed no anomalies in the morphological ultrasound scan on the 20th week of gestation. The lymphatic fluid accumulation resolved spontaneously but hydrothorax developed at week 29 of pregnancy. The hydrops recurred despite the placement of a pleuro-amniotic shunt, and the gestation ended in premature delivery and early neonatal death due to massive hydrops. Necropsy revealed pulmonary lymphangiomatosis. This disease had not been previously related to increased perinuchal translucency in a euploid fetus.

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