Spectrum and Interdisciplinary Management of Incidental Fetal Head and Neck Anomalies: A Retrospective Analysis at a Tertiary Care Teaching Hospital

Background: The current standard of care for fetal structural anomalies is routine fetal second trimester ultrasonography at 18–22 weeks. These, in turn, include less common primary masses of the fetal head and neck that have a specific perinatal morbidity. These incidental findings include soft markers, as well as more serious deformities, including but not limited to, massive cervical teratomas, cystic hygroma and more or less severe micrognathia (with or without cleft). These anomalies should be identified early and an assessment of esophageal compression (for anticipation of polyhydramnios) and tracheal deviation (for anticipation of neonatal airway obstruction) should be performed. This study evaluates the frequency, ultrasound characteristics, and complications of fetal head/neck anomalies at a Tertiary center and underscores the importance of collaboration amongst radiology, obstetrics, and pediatrics/pediatric otolaryngology. Material and Methods: We conducted a retrospective, single-center cohort study at Sri Venkateshwaraa Medical College Hospital & Research Centre, covering all singleton pregnancies undergoing routine TIFFA scans between 18 and 22 weeks from January 2020 to December 2025. Inclusion required documented sonographic evidence of a cranial, facial, or cervical anomaly. Exclusions were multiple gestations, incomplete records, and loss to follow-up. Data from the Picture Archiving and Communication System (PACS) and medical records were entered into a proforma. Radiology data included lesion location, morphology (cystic vs. solid/mixed), maximal diameter, and any tracheal deviation. Obstetric data included amniotic fluid index (AFI, polyhydramnios defined as ≥24 cm), karyotype results, delivery mode, and gestational age. Neonatal/ENT data captured airway status at birth, need for intubation or surgical airway, and survival. Categorical variables are reported as counts (%) and continuous variables as mean ± SD. Owing to small sample size (N=17), Fisher’s Exact Test was used to assess associations; p<0.05 was considered significant. Statistical analysis was performed using the Jamovi software suite. Results: Seventeen cases met inclusion criteria. The mean maternal age was 28.3±4.2 years, with fetal anomalies detected at a mean gestational age of 19.5±1.1 weeks. The spectrum of anomalies was led by cystic hygroma (8/17, 47.1%), followed by cervical teratoma (4/17, 23.5%), fetal goiter (2/17, 11.8%), severe micrognathia with/without cleft palate (2/17, 11.8%), and a branchial cleft cyst (1/17, 5.9%). All chromosomal abnormalities (3 cases, 17.6%) were confined to the cystic hygroma group (two Turner syndrome [45,X] and one trisomy-18). Polyhydramnios (AFI≥24) complicated 7 pregnancies (41.2%), predominantly those with solid/mixed masses. Three pregnancies were electively terminated for severe aneuploidy, and one pregnancy ended in spontaneous intrauterine fetal demise. Among the 13 neonates born alive, 5 (38.5%) were preterm (<37 wks). Emergency cesarean delivery was required in three cases, all with very large cervical teratomas (mean diameter ~88 mm). Airway compromise at birth occurred in 8 of 13 (61.5%) liveborn infants; 5 were successfully intubated, 2 required tracheostomy, and 1 (with a 102 mm teratoma) died after failed airway management. Statistical analysis showed a significant link between solid/mixed lesion morphology and polyhydramnios (p=0.027). Likewise, prenatal tracheal deviation on ultrasound was a strong predictor of postnatal airway intervention: every liveborn with a deviated trachea needed advanced airway support (p=0.033). The association of aneuploidy with cystic hygroma did not reach statistical significance (p=0.082), though all aneuploid cases were in that group. Details of the cohort’s characteristics and outcomes are summarized in Tables 1–3. Conclusion: A critical time for fetal head/neck anomalies and prediction of the airway risk is the routine 18–22 week TIFFA scan. Esophageal compression (polyhydramnios) and more specifically tracheal deviation are important prognostic factors. Such complicated cases require a coordinated workflow – the radiographical localization of the anatomy helps in planning the delivery as needed; at the time of birth the pediatric ENT service is prepared to perform definitive airway measures.

Keywords: Fetal neck mass, cervical teratoma, cystic hygroma, polyhydramnios, prenatal ultrasound, EXIT procedure, fetal goiter, micrognathia.