Vol 94, No 1 (2023)
Research paper
Published online: 2022-12-19
Sonographic imaging and differential diagnosis of fetal perineal masses
12
, 3, 4, 12, 125
, 3, 4, 12, 125
Abstract
This case series describes our experience with a prenatal diagnosis of fetal perineal masses. We propose a clinical-sonographic approach for prenatal workup in cases presenting perineal findings based on imaging the target sign at the posterior perineal triangle, the fetal genitalia, and sacrum. 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.
Keywords: perineal massesfetusfetal diagnosisultrasound
References
- Ito M, Hashizume K, Kanamori Y. New phenotype of accessory scrotum with perineal lipoblastoma: coexistence of midperineal and lateral accessory scrotums. Int J Urol. 2004; 11(2): 125–127.
- Nakamura Y, Jennings RW, Connolly S, et al. Fetal diagnosis of penoscrotal transposition associated with perineal lipoma in one twin. Fetal Diagn Ther. 2010; 27(3): 164–167.
- Inde Y, Terada Y, Ikegami Ei, et al. Bifid scrotum and anocutaneous fistula associated with a perineal lipomatous tumor complicated by temporary bilateral cryptorchidism in utero mimicking ambiguous genitalia: 2-D/3-D fetal ultrasonography. J Obstet Gynaecol Res. 2014; 40(3): 843–848.
- Ito M, Hashizume K, Kanamori Y. New phenotype of accessory scrotum with perineal lipoblastoma: coexistence of midperineal and lateral accessory scrotums. Int J Urol. 2004; 11(2): 125–127.
- Ahn KiH, Boo YJ, Seol HJ, et al. Prenatally detected congenital perineal mass using 3D ultrasound which was diagnosed as lipoblastoma combined with anorectal malformation: case report. J Korean Med Sci. 2010; 25(7): 1093–1096.
- Wax JR, Pinette MG, Mallory B, et al. Prenatal sonographic diagnosis of a perineal lipoma. J Ultrasound Med. 2010; 29(8): 1257–1259.
- Murase N, Uchida H, Hiramatsu K. Accessory scrotum with perineal lipoma diagnosed prenatally: case report and review of the literature. Nagoya J Med Sci. 2015; 77(3): 501–506.
- Yamaçake KG, Giron AM, Tannuri U, et al. A rare case of perineal hamartoma associated with cryptorchidism and imperforate anus: case report. Einstein (Sao Paulo). 2014; 12(2): 234–236.
- Guerra-Junior G, Aun AME, Miranda ML, et al. Congenital perineal lipoma presenting as ambiguous genitalia. Eur J Pediatr Surg. 2008; 18(4): 269–271.
- Chen CP, Chang TY, Hsu CY, et al. Persistent cloaca presenting with a perineal cyst: Prenatal ultrasound and magnetic resonance imaging findings. J Chin Med Assoc. 2012; 75(4): 190–193.
- Achiron R, Frydman M, Lipitz S, et al. Urorectal septum malformation sequence: prenatal sonographic diagnosis in two sets of discordant twins. Ultrasound in Obstetrics and Gynecology. 2002; 16(6): 571–574.
- Perlman S, Bilik R, Leibovitch L, et al. More than a gut feeling - sonographic prenatal diagnosis of imperforate anus in a high-risk population. Prenat Diagn. 2014; 34(13): 1307–1311.
- Bartsch O, Kuhnle U, Wu LL, et al. Evidence for a critical region for penoscrotal inversion, hypospadias, and imperforate anus within chromosomal region 13q32.2q34. Am J Med Genet. 1996; 65(3): 218–221, doi: 10.1002/(SICI)1096-8628(19961028)65:3<218::AID-AJMG9>3.0.CO;2-L.
- Köchling J, Karbasiyan M, Reis A. Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome. Eur J Hum Genet. 2001; 9(8): 599–605.
