Objectives: Congenital perineal masses are a rare finding that may originate from the soft tissues of the perineum itself (perineal lipomas, lipoblastomas, hemangiomas, hamartomas), the sacrum (sacrococcygeal teratomas), the external genitalia (accessory scrotum or bifid scrotum, penoscrotal transposition). The present study describes our experience with fetal perineal masses and presents a clinical-sonographic flowchart for prenatal workup. Material and methods: Perineal masses were diagnosed in 16 cases throughout five years. All cases underwent a thorough sonographic morphologic fetal evaluation, and the parents were counseled by a multidisciplinary team. Examinations were performed with E8 or E10 expert machines. Transvaginal and transabdominal transducers were used according to the gestational age and fetal presentation. Results: A total of 16 cases were referred for a targeted scan for a perineal finding between 20 and 26 weeks of gestation. Definitive diagnosis was provided after 20 weeks, following visualization of the target sign. All couples were offered genetic counseling and amniocentesis. Genetic analysis revealed abnormal results in three cases — one case of down syndrome and two consecutive cases of Townes–Brocks syndrome in the same couple. Postnatal clinical examination of the neonate or the abortus in case of termination of pregnancy (4 cases) up confirmed the diagnosis in all cases. Conclusions: Targeted, structured prenatal anatomical scan in fetuses presenting with perineal masses may aid in the prenatal differential diagnosis and enable appropriate genetic analysis, prenatal counseling, and postnatal treatment.
- fetal diagnosis
- perineal masses