Higromă chistică prezentată ca o formaţiune izolată – raportare de caz şi review al literaturii

Abstract

Nuchal translucency (NT) is the ultrasound observation of subcutaneous fluid accumulation at the back of the fetal neck, which, when excessively enlarged, can lead to nuchal edema or cystic hygroma. Elevated NT is associated with chromosomal anomalies and pregnancy complications. Cystic hygroma (CH) is caused by lymphatic system blockage, resulting in fluid-filled pseudocysts. Its incidence varies, but it is usually rare in the general population. CH is commonly detected during prenatal screenings, with higher incidences in populations undergoing extensive testing. It can be associated with genetic conditions like Turner and Down syndromes, influenced by geographic regions and maternal age. Ultrasound is an established method for CH diagnosis, revealing multiseptated cystic masses. A normal karyotype is found in only 20-50% of cases. The management varies from expectant monitoring to pregnancy termination, depending on severity and associated anomalies. The risk of recurrence depends on karyotype; normal karyotypes have a higher recurrence risk. Spontaneous resolution of cystic hygroma has been reported in some cases. To illustrate this situation, we present the case of a patient with a spontaneously regressed CH associated with a normal karyotype and a favorable outcome. In conclusion, cystic hygroma management and counseling should consider the presence of chromosomal abnormalities, but recent studies reveal a more optimistic perspective once these abnormalities are ruled out. Collaborative counseling is essential for informed decision-making during pregnancy regarding fetal interventions, neonatal care or palliative care.