Prenatally diagnosed neck masses: long-term outcomes and quality of life

Abstract

Purpose: To determine long-term outcomes of fetuses with neck masses (NM), including functional and cosmetic results.

Methods: A retrospective review was performed of all fetuses evaluated for NM from November 2001 to March 2014. Quality of life (QOL) was evaluated using the validated PedsQL™ questionnaire.

Results: Of 35 fetuses evaluated, 9 died perinatally and 1 died late from tracheostomy complications. NM ranged from 4 to 20cm (mean, 9.1cm); 18 were delivered by EXIT. Of 25 surviving patients, 22 had mass resection, 7 requiring more than one procedure. Surviving patients with lymphatic malformations (LM) had the highest incidence of moderate and severe disfigurement and a higher rate of persistent/recurrent disease (100% vs. 31%, p=0.002) and cranial nerve dysfunction (50% vs. 0%, p=0.005) compared to those with non-LM diagnoses. Of 9 children attending school, 78% achieve grades of A/B's. QOL for 13 patients revealed a mean score of 83/100 for physical and 78/100 for psychosocial functioning. Median follow-up was 6 years (7 months-17 years).

Conclusion: Unlike those with teratoma or other lesions, children with congenital cervicofacial LM are at high-risk for persistent disease, nerve dysfunction and moderate-severe disfigurement. There is substantial perinatal morbidity for fetuses with neck masses, but for those surviving, the long-term functional and cognitive outcomes are good.

Keywords: Cervical lymphatic malformation; Cervical teratoma; Cervical thyroid cyst; Cervical vascular malformation; Fetal neck mass.