The prenatal diagnosis of cloacal dysgenesis sequence in six cases: can the termination of pregnancy always be the first choice?

Sahinoglu, Zeki; Mulayim, Baris; Özden, Selçuk; Etker, Şeref; Celayir, Ayşenur Cerrah; Özkan, Ferda; Bilgiç, Remziye

doi:10.1002/pd.768

Cited by 39 publications

(50 citation statements)

References 20 publications

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“…A major characteristic of this malformation concludes absence of a median perineal raphe (Liang, Ioffe & Sun 1998). Proximal urethral dilation, oligohydramnios, enormously enlarged bladder, bilateral hydronephrosis, megacystitis, bilateral MCDK, hydroureter, various degrees of cystic dysplasia of kidneys and reduction of amniotic fluid index are the consequences of the urinary tract obstruction (Sahinoglu et al 2004). As the time of urinary obstruction prolongs, the severity of kidney disease and pulmonary hypoplasia increases and the volume of amniotic fluid reduces, that can notably influence the neonatal survival (Sahinoglu et al 2004).…”

Section: Figure 2: Post Termination Cystogram and Colon Imaging Confimentioning

confidence: 99%

“…Cloacal dysgenesis sequence (CDS) is an infrequent but distinctive malformation with a wide spectrum of clinical manifestations, which occurs in about 1 out of 50,000 liveborn infants (Warne, Chitty & Wilcox 2002) that results in termination of pregnancy in most of the cases (Sahinoglu et al 2004). It is important to reveal a short review of embryology to understand the pathogenesis of CDS.…”

Section: Introductionmentioning

confidence: 99%

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Antenatal Diagnosis of Cloacal Dysgenesis Sequence by Fetal Magnetic Resonance Urography: Is It Incompatible with Fetal Life?

Sabetkish

Sabetkish²,

Kajbafzade³

et al. 2013

IJCRM

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Cloacal dysgenesis sequence (CDS) is a lethal and rare congenital malformation; usually requiring termination of gestation. As prenatal ultrasonography remains a method with doubtable results, we used Fetal Magnetic Resonance Urography (FMRU) for the evaluation of a fetus at 18 weeks of gestation, suspected to cloacal anomalies. Prenatal imaging of the patient; showed smooth perineum, bilateral hypoplastic kidneys, dilated urinary bladder and absence of anal, urethral and vaginal openings; while prenatal sonographic investigation merely showed a mesenteric cyst. Gestation was culminated and no vesicocolon fistula was detected in the abortus. In the current study, FMRU provided larger number of anomalies and showed to be more sensitive in evaluation of urogenital anatomy compared to the results obtained from sonography.

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Section: Figure 2: Post Termination Cystogram and Colon Imaging Confimentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Antenatal Diagnosis of Cloacal Dysgenesis Sequence by Fetal Magnetic Resonance Urography: Is It Incompatible with Fetal Life?

Sabetkish

Sabetkish²,

Kajbafzade³

et al. 2013

IJCRM

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“…Complete cloacal dysgenesis is associated with severe oligohydramnios due to complete urinary obstruction. 22 Affected fetuses also have pulmonary hypoplasia. 11,22 Other findings include ambiguous genitalia, a 2-vessel cord, spine abnormalities, and a tethered cord.…”

Section: A B C Dmentioning

confidence: 99%

“…22 Affected fetuses also have pulmonary hypoplasia. 11,22 Other findings include ambiguous genitalia, a 2-vessel cord, spine abnormalities, and a tethered cord. The sacrum may be hypoplastic or missing the distal segments (Figure 3).…”

Section: A B C Dmentioning

confidence: 99%

“…A persistent urogenital sinus is at the milder end of the spectrum, whereas complete cloacal dysgenesis is much more severe and often lethal due to pulmonary hypoplasia and renal failure, although there are case reports of survival. 22,23 Initial management should be aimed at decompressing hydrocolpos if present to reduce the risk of vaginal perforation and sepsis and to prevent ongoing urinary obstruction. Recognition of hydrocolpos prenatally can facilitate rapid treatment at birth.…”

Section: A B C Dmentioning

confidence: 99%

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Cloacal Malformation

Winkler¹,

Kennedy²,

Woodward³

2012

Journal of Ultrasound in Medicine

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Embryology, Anatomy, and Prenatal Imaging Featuresloacal malformations constitute a group of severe nonhereditary anorectal malformations. Failure of division of the cloaca or urogenital sinus early in embryogenesis results in either convergence of the genital, urinary, and intestinal contents into a single common channel (cloaca) or the formation of two channels: a common genitourinary channel (urogenital sinus) separate from the hindgut. Although rare, with a quoted incidence of 1 per 20,000 live births, 1 a tertiary referral center may encounter up to 1 or 2 cases per year based on our institutional experience.Recent retrospective reviews by Bischoff et al 2 and Livingston et al 3 found that the prenatal diagnosis of cloacal malformation was suspected in only 6% of their patients with a diagnosis of cloacal malformation at birth, despite the presence of suspicious sonographic findings in as many as 62% of the cases when the prenatal imaging reports were reviewed. 2 The results of their studies indicate a need for improved pattern recognition by obstetric imagers.In this series, we present the prenatal findings in a series of 6 proven cases of cloacal malformation. Characteristic imaging features of our cases in combination with a literature review are described, in addition to pitfalls and important differential considerations. Information on the prognosis and general management is provided for guidance in counseling and referring affected families. Cloacal extrophy is a distinct entity from cloacal malformation and will not be discussed. CASE SERIESCloacal malformation is a rare but important anomaly. Prenatal diagnosis is possible with knowledge of the distinctive imaging features. The purpose of this case series is to illustrate characteristic prenatal sonographic and magnetic resonance imaging features of cloacal malformation using imaging from 6 cases seen at a single academic center to augment published data. The imaging feature common to all cases was a central cystic pelvic mass containing a characteristic fluid-fluid level. Additional anomalies include uterine and vaginal duplication, hydronephrosis, and lumbosacral anomalies. Prenatal magnetic resonance imaging showed the absence of the normal T1-hyperintense meconium-filled rectum in all cases. Prenatal diagnosis may affect immediate neonatal care (eg, immediate drainage of hydrocolpos) with an ultimate improved outcome.

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The OEIS complex: two case reports that illustrate the spectrum of abnormalities and a review of the literature

et al. 2006

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We present two cases of OEIS (omphalocele, exstrophy, imperforate anus, spinal defects) complex -MIM 258040 and a review of the literature. Case 1 was a 14-year-old girl who presented at 30 weeks' gestation. An ultrasound examination showed an omphalocele and spina bifida; the bladder was not visualised. She went into spontaneous labour two weeks later and the baby died shortly after birth. A full post-mortem examination was refused, but the mother did agree to an external examination, skin biopsy for fibroblast culture, X rays and MR imaging. The MR imaging showed a pelvic kidney, a large omphalocele containing the other kidney, liver, bowel and a fluid filled structure thought to represent an exstrophy of the bladder (EB). Case 2 was a 30-year-old woman who had an ultrasound examination at 20 weeks' gestation; this showed an omphalocele, but the bladder was not visualised. The pregnancy was subsequently terminated and a post-mortem examination showed a low set umbilical cord associated with a small omphalocele; there was an imperforate anus; a blind ending rectum terminated in the omphalocele. We conclude that these two cases illustrate the variability of the OEIS complex.

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The prenatal diagnosis of cloacal dysgenesis sequence in six cases: can the termination of pregnancy always be the first choice?

Cited by 39 publications

References 20 publications

Antenatal Diagnosis of Cloacal Dysgenesis Sequence by Fetal Magnetic Resonance Urography: Is It Incompatible with Fetal Life?

Antenatal Diagnosis of Cloacal Dysgenesis Sequence by Fetal Magnetic Resonance Urography: Is It Incompatible with Fetal Life?

Cloacal Malformation

The OEIS complex: two case reports that illustrate the spectrum of abnormalities and a review of the literature

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