open access

Vol 94, No 1 (2023)
Research paper
Published online: 2022-12-19
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Sonographic imaging and differential diagnosis of fetal perineal masses

Sharon Perlman12, Katarzyna Zych-Krekora3, Michal Krekora4, Ron Bardin12, Yinon Gilboa125
·
Pubmed: 36597749
·
Ginekol Pol 2023;94(1):46-50.
Affiliations
  1. Ultrasound Unit, The Helen Schneider Women’s Hospital, Rabin Medical Center, Beilinson Campus, Petach Tikva, Israel, Israel
  2. Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel, Israel
  3. Polish Mother’s Memorial Hospital Research Institute in Lodz, Department of Perinatology, Obstetrics and Gynaecology, Lodz, Poland, Poland
  4. Polish Mother’s Memorial Hospital Research Institute in Lodz, Department of Obstetrics and Gynaecology, Lodz, Poland
  5. Ultrasound Unit, Department of Obstetrics and Gynecology, The Chaim Sheba Medical Center, Tel-HaShomer, Israel

open access

Vol 94, No 1 (2023)
ORIGINAL PAPERS Obstetrics
Published online: 2022-12-19

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.

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.

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Keywords

perineal masses; fetus; fetal diagnosis; ultrasound

About this article
Title

Sonographic imaging and differential diagnosis of fetal perineal masses

Journal

Ginekologia Polska

Issue

Vol 94, No 1 (2023)

Article type

Research paper

Pages

46-50

Published online

2022-12-19

Page views

2950

Article views/downloads

357

DOI

10.5603/GP.a2022.0157

Pubmed

36597749

Bibliographic record

Ginekol Pol 2023;94(1):46-50.

Keywords

perineal masses
fetus
fetal diagnosis
ultrasound

Authors

Sharon Perlman
Katarzyna Zych-Krekora
Michal Krekora
Ron Bardin
Yinon Gilboa

References (14)
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  2. 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.
  3. 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.
  4. 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.
  5. 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.
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  8. 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.
  9. 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.
  10. 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.
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  12. 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.
  13. 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.
  14. 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.

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