Fetal cloacal dysgenesis sequence presented with first trimester megacystis and associated umbilical cord abnormalities

Cloacal dysgenesis sequence occurs as a result of complete developmental failure of the urorectal septum. Typically, the sequence is featured by a smooth perineum, without any urethral, genital or anal openings. Its clinical manifestation differs throughout gestation. We report an interesting case o...

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Veröffentlicht in:The journal of obstetrics and gynaecology research 2020-03, Vol.46 (3), p.527-530
Hauptverfasser: Gursoy Erzincan, Selen, Sayin, N. Cenk, Inan, Cihan, Uzun, Isil, Yapici Ugurlar, Ozge, Varol, Fusun G.
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container_issue 3
container_start_page 527
container_title The journal of obstetrics and gynaecology research
container_volume 46
creator Gursoy Erzincan, Selen
Sayin, N. Cenk
Inan, Cihan
Uzun, Isil
Yapici Ugurlar, Ozge
Varol, Fusun G.
description Cloacal dysgenesis sequence occurs as a result of complete developmental failure of the urorectal septum. Typically, the sequence is featured by a smooth perineum, without any urethral, genital or anal openings. Its clinical manifestation differs throughout gestation. We report an interesting case of first trimester megacystis with associated umbilical cord abnormalities in a female fetus having cloacal dysgenesis sequence. This rare association reflecting high urinary pressure should first suggest urethral atresia. Our case highlights the importance of routine inspection of umbilical cord in the workup of early megacystis in terms of both etiology and fetal diagnosis.
doi_str_mv 10.1111/jog.14204
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subjects Abnormalities, Multiple - diagnostic imaging
Adult
Cloaca - abnormalities
cloacal dysgenesis
Duodenum - abnormalities
Duodenum - diagnostic imaging
Etiology
Fatal Outcome
Female
Fetal Diseases - diagnostic imaging
Fetuses
Gestation
Humans
Infant, Newborn
Infant, Premature
megacystis
Perinatal Death
Perineum
Pregnancy
Pregnancy Trimester, First
prenatal ultrasound
Septum
Ultrasonography, Prenatal
Umbilical cord
umbilical cord cyst
Urinary Bladder - abnormalities
Urinary Bladder - diagnostic imaging
title Fetal cloacal dysgenesis sequence presented with first trimester megacystis and associated umbilical cord abnormalities
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