Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases.
46, XX Disorders of Sex Development
/ diagnostic imaging
Abnormalities, Multiple
/ diagnostic imaging
Adult
Bardet-Biedl Syndrome
/ diagnostic imaging
Congenital Abnormalities
/ diagnostic imaging
Female
Germany
Gestational Age
Heart Defects, Congenital
/ diagnostic imaging
Humans
Hydrocolpos
/ diagnostic imaging
Infant, Newborn
Male
Mullerian Ducts
/ abnormalities
Polydactyly
/ diagnostic imaging
Predictive Value of Tests
Prognosis
Retrospective Studies
Ultrasonography, Doppler, Duplex
Ultrasonography, Prenatal
/ methods
Uterine Diseases
/ diagnostic imaging
Cloaca
Fetus
Hydrometrocolpos
Prenatal diagnosis
Urogenital sinus
Journal
Fetal diagnosis and therapy
ISSN: 1421-9964
Titre abrégé: Fetal Diagn Ther
Pays: Switzerland
ID NLM: 9107463
Informations de publication
Date de publication:
2019
2019
Historique:
received:
21
08
2017
accepted:
29
12
2017
pubmed:
27
2
2018
medline:
23
4
2019
entrez:
26
2
2018
Statut:
ppublish
Résumé
Hydrocolpos and hydrometrocolpos are rare malformations caused by accumulation of secretion due to congenital obstruction of the vagina. Hydro(metro)colpos may be isolated or can be combined with other malformations as part of a syndromic disorder. We report on a series of 20 cases with hydro(metro)colpos diagnosed prenatally, delineate the differential diagnoses, and illustrate the spectrum of associated malformations. This was a retrospective study involving 20 fetuses with hydro(metro)colpos at two large tertiary referral centers in Germany over an 18-year period (2000-2017). The median diagnosis was made at 30+4 weeks of gestation, the earliest at 20+6 weeks, the latest at 37+2 weeks. All 20 fetuses presented with the typical cystic structure behind the fetal bladder. Additional malformations included urogenital malformations, hexadactyly, and heart defects. Postnatal follow-up revealed that hydro(metro)colpos was associated with anorectal malformation in 11/20 fetuses, McKusick-Kaufman syndrome or Bardet-Biedl syndrome in 4/20 fe tuses, Mayer-Rokitansky-Küster-Hauser syndrome in 3/20 fetuses, and Herlyn-Werner-Wunderlich syndrome in 1/20. In 1 fetus pressure from an intraabdominal teratoma resulted in prenatal hydro(metro)colpos. Hydro(me tro)colpos is a rare prenatal sonographic feature. Multidisciplinary prenatal counseling should include all potential syndromes that can present with hydro(metro)colpos in the prenatal setting.
Sections du résumé
BACKGROUND
BACKGROUND
Hydrocolpos and hydrometrocolpos are rare malformations caused by accumulation of secretion due to congenital obstruction of the vagina. Hydro(metro)colpos may be isolated or can be combined with other malformations as part of a syndromic disorder. We report on a series of 20 cases with hydro(metro)colpos diagnosed prenatally, delineate the differential diagnoses, and illustrate the spectrum of associated malformations.
SUBJECTS AND METHODS
METHODS
This was a retrospective study involving 20 fetuses with hydro(metro)colpos at two large tertiary referral centers in Germany over an 18-year period (2000-2017).
RESULTS
RESULTS
The median diagnosis was made at 30+4 weeks of gestation, the earliest at 20+6 weeks, the latest at 37+2 weeks. All 20 fetuses presented with the typical cystic structure behind the fetal bladder. Additional malformations included urogenital malformations, hexadactyly, and heart defects. Postnatal follow-up revealed that hydro(metro)colpos was associated with anorectal malformation in 11/20 fetuses, McKusick-Kaufman syndrome or Bardet-Biedl syndrome in 4/20 fe tuses, Mayer-Rokitansky-Küster-Hauser syndrome in 3/20 fetuses, and Herlyn-Werner-Wunderlich syndrome in 1/20. In 1 fetus pressure from an intraabdominal teratoma resulted in prenatal hydro(metro)colpos.
CONCLUSION
CONCLUSIONS
Hydro(me tro)colpos is a rare prenatal sonographic feature. Multidisciplinary prenatal counseling should include all potential syndromes that can present with hydro(metro)colpos in the prenatal setting.
Identifiants
pubmed: 29478043
pii: 000486781
doi: 10.1159/000486781
doi:
Types de publication
Journal Article
Multicenter Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
62-68Informations de copyright
© 2018 S. Karger AG, Basel.