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泄殖腔产前诊断中的挑战。

Challenges in the Prenatal Diagnosis of Cloaca.

作者信息

Shields Lisa B E, White Jeffrey T, Peppas Dennis S, Rosenberg Eran

机构信息

Norton Neuroscience Institute, Norton Healthcare, Louisville, KY, USA.

Norton Children's Urology, Norton Healthcare, Louisville, KY, USA.

出版信息

Glob Pediatr Health. 2020 Sep 23;7:2333794X20958929. doi: 10.1177/2333794X20958929. eCollection 2020.

DOI:10.1177/2333794X20958929
PMID:33015248
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7517978/
Abstract

BACKGROUND

Cloaca is a common excretory channel for the genital, urinary, and gastrointestinal tracts. It is considered a severe anorectal malformation caused by failed partitioning of the genital, rectal, and urinary tracts.

METHODS

We report 5 infants with cloaca at birth who were identified prenatally by one or more of the following on prenatal ultrasound (US): ambiguous genitalia, a cystic pelvic/abdominal mass, hydronephrosis, ascites, a single umbilical artery, and oligohydramnios.

RESULTS

A cystic pelvic/abdominal mass and ambiguous genitalia were each observed in 3 cases by prenatal US. Ambiguous genitalia was observed in all 5 neonates at birth. There were 2 twin pregnancies (dichorionic/diamniotic and monochorionic/monoamniotic), with only 1 twin in a set affected with cloaca.

CONCLUSION

Pediatricians should be alert to the prenatal US findings that may raise suspicion of a persistent cloaca to improve both prenatal counseling and family preparation.

摘要

背景

泄殖腔是生殖、泌尿和胃肠道的共同排泄通道。它被认为是一种严重的肛门直肠畸形,由生殖、直肠和泌尿道的分隔失败引起。

方法

我们报告了5例出生时患有泄殖腔的婴儿,他们在产前超声(US)检查中通过以下一种或多种情况在产前被识别出来:生殖器模糊、盆腔/腹部囊性肿块、肾积水、腹水、单脐动脉和羊水过少。

结果

产前超声检查在3例中均观察到盆腔/腹部囊性肿块和生殖器模糊。出生时所有5例新生儿均观察到生殖器模糊。有2例双胎妊娠(双绒毛膜/双羊膜囊和单绒毛膜/单羊膜囊),每组中只有1例双胎受泄殖腔影响。

结论

儿科医生应警惕可能提示持续性泄殖腔的产前超声检查结果,以改善产前咨询和家庭准备。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63c1/7517978/81076b376ca2/10.1177_2333794X20958929-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63c1/7517978/bc291a22f122/10.1177_2333794X20958929-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63c1/7517978/e7f1dd1c18fe/10.1177_2333794X20958929-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63c1/7517978/81076b376ca2/10.1177_2333794X20958929-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63c1/7517978/bc291a22f122/10.1177_2333794X20958929-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63c1/7517978/e7f1dd1c18fe/10.1177_2333794X20958929-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63c1/7517978/81076b376ca2/10.1177_2333794X20958929-fig3.jpg

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本文引用的文献

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Cloacal Anomalies in Monoamniotic, Monochorionic Twins with Complete Urinary Tract Obstruction.单羊膜囊、单绒毛膜双胎伴完全性尿路梗阻的泄殖腔畸形
Urol Int. 2019;103(3):369-371. doi: 10.1159/000494566. Epub 2018 Dec 12.
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Perinatal Outcomes of Fetal Lower Urinary Tract Obstruction After Vesicoamniotic Shunting Using a Double-Basket Catheter.使用双篮导管进行羊膜腔分流术后胎儿下尿路梗阻的围产期结局
J Ultrasound Med. 2018 Sep;37(9):2147-2156. doi: 10.1002/jum.14565. Epub 2018 Mar 2.
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Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study.
国家出生缺陷预防研究中泄殖腔畸形的临床及危险因素分析
Am J Med Genet A. 2017 Nov;173(11):2873-2885. doi: 10.1002/ajmg.a.38469. Epub 2017 Sep 28.
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The current profile of persistent cloaca and cloacal exstrophy in Japan: the results of a nationwide survey in 2014 and a review of the literature.日本持续性泄殖腔和泄殖腔外翻的现状:2014年全国性调查结果及文献综述
Pediatr Surg Int. 2017 Apr;33(4):505-512. doi: 10.1007/s00383-016-4053-4. Epub 2017 Jan 5.
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Prenatal diagnosis of cloacal malformation.泄殖腔畸形的产前诊断。
Semin Pediatr Surg. 2016 Apr;25(2):71-5. doi: 10.1053/j.sempedsurg.2015.11.004. Epub 2015 Nov 10.
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Diagnostic difficulties in a case of persistent cloaca with hydrocolpos.一例伴有阴道积水的持续性泄殖腔病例的诊断困难
J Neonatal Surg. 2012 Oct 1;1(4):55. eCollection 2012 Oct-Dec.
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Cloaca in discordant monoamniotic twins: prenatal diagnosis and consequence for fetal lung development.双羊膜囊单绒毛膜双胎中的泄殖腔畸形:产前诊断及对胎儿肺发育的影响
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Prenatal diagnosis and postnatal ultrasound findings of cloacal anomaly: a case report.泄殖腔畸形的产前诊断及产后超声表现:1例病例报告
Case Rep Pediatr. 2012;2012:969860. doi: 10.1155/2012/969860. Epub 2012 Oct 4.
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