Cloaca in Discordant Monoamniotic Twins: Prenatal Diagnosis and Consequence for Fetal Lung Development

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Abstract

Objective Describe a case of cloaca prenatally diagnosed in one of a set of monoamniotic twins.

Study Design Retrospective review of a case.

Results Cloaca is one of the most complex and severe degrees of anorectal malformations in girls. We present a discordant cloaca in monoamniotic twins. Fetal ultrasound showed a female fetus with a pelvic midline cystic mass, a phallus-like structure, a probable anorectal atresia with absence of anal dimple and a flat perineum, and renal anomalies. The diagnosis was confirmed by fetal magnetic resonance imaging postnatally.

Conclusions The rarity of the malformation in a monoamniotic pregnancy, the difficulties of prenatal diagnosis, the pathogenic assumptions, and the consequences of adequate amniotic fluid for fetal lung development are discussed.

Most cited references 16

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Anorectal malformations

Marc Levitt, Alberto Peña-Valenzuela (2007)

Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage, are often associated with other anomalies, and have a poor functional prognosis. The surgical approach to repairing these defects changed dramatically in 1980 with the introduction of the posterior sagittal approach, which allowed surgeons to view the anatomy of these defects clearly, to repair them under direct vision, and to learn about the complex anatomic arrangement of the junction of rectum and genitourinary tract. Better imaging techniques, and a better knowledge of the anatomy and physiology of the pelvic structures at birth have refined diagnosis and initial management, and the analysis of large series of patients allows better prediction of associated anomalies and functional prognosis. The main concerns for the surgeon in correcting these anomalies are bowel control, urinary control, and sexual function. With early diagnosis, management of associated anomalies and efficient meticulous surgical repair, patients have the best chance for a good functional outcome. Fecal and urinary incontinence can occur even with an excellent anatomic repair, due mainly to associated problems such as a poorly developed sacrum, deficient nerve supply, and spinal cord anomalies. For these patients, an effective bowel management program, including enema and dietary restrictions has been devised to improve their quality of life.

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Non-identical monozygotic twins, intermediate twin types, zygosity testing, and the non-random nature of monozygotic twinning: a review.

Geoffrey Machin (2009)

Monozygotic twins (MZ) are rarely absolutely "identical." This review discusses the types of genetic/epigenetic and prenatal environmental post-zygotic mechanisms that cause discordance within such twin pairs. Some of these mechanisms--ranging from heterokaryotypia to skewed X-chromosome inactivation--may cause extreme discordance, but these extremes are merely the more emphatic examples of discordance that, to some degree, underlies the majority of MZ twin pairs. Because of the entrenched misconception that MZ twins are necessarily identical, many MZ twin pairs are mistakenly designated as dizygotic (DZ). Clinical benefits to accurate zygosity determination include correct solid organ transplantation matching, if one twin requires donation for a non-genetically mediated disease; the opportunity of preventive management for disorders that do not manifest synchronously; and better counseling to parents regarding their individually unique, and often psychologically puzzling, twin offspring. In twin pairs with complex and confusing biological origins, more detailed zygosity testing may be required. For example, intermediate trigametic and tetragametic chimeric dizygotic twins are reviewed, some of whom are, nevertheless, monochorionic (MC). Because of inter-fetal vascular anastomoses in MC twins, genetic results from blood samples may not accurately reflect discordance in solid organs. Previously, it was thought that MZ twinning was some sort of embryological fluke. However, familial monozygotic twinning is more common than suggested by the literature. Seven new families are presented in an accompanying paper. Despite the difficulties and dangers of twin pregnancy (especially so for MC twins), human twinning persists, and continues to both challenge and fascinate parents, clinicians and geneticists. Copyright 2009 Wiley-Liss, Inc.

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Prenatal diagnosis of cloacal malformations.

Jeremy F Y Lim, James Levitt, Ana Faleiros … (2010)

Prenatal diagnosis of anorectal malformations currently occurs in 0-15.9% of screened cases. In cloacas, these numbers are unknown. We speculate that some images from prenatal ultrasound studies may suggest the diagnosis of cloaca, but are not recognized because of a lack of suspicion for this diagnosis. A retrospective review of the medical records of 489 patients born with cloaca was performed; 95 of them had prenatal ultrasound reports that represent the material analyzed for this study. A literature review was performed, finding 31 publications, with 68 cloaca patients detected by prenatal images. The abnormal findings of our patients were compared with those described in the literature to determine the most common abnormal prenatal images found in patients with cloaca. The 95 ultrasound reports found in our patients described 270 abnormalities, the most frequent were: abdominal/pelvic cystic/mass (39), hydronephrosis (36), oligohydramnios (23), distended bowel/bowel obstruction (19), ascites (15), 2 vessel cord (14), dilated bladder (14), dilated ureter (14), polyhydramnios (10), echogenic bowel (8), multicystic kidney (8), "ambiguous genitalia" (7), hydrops fetalis (7), hydrocolpos (4), absent kidney (3), abnormal spine (3), and anorectal atresia (3). In spite of these findings, the radiologists who interpreted the studies only suspected a cloaca in 6 cases (6%). The literature review showed 212 abnormalities in 68 demonstrated cloaca patients. The most frequent were: abdominal/pelvic cystic/mass (46), hydronephrosis (44), ascites (21), oligohydramnios (20), distended bowel (11), multicystic dysplastic kidney (7), ambiguous genitalia (6), non-visualization of the bladder (6), two-vessel cord (5), dilated bladder (5), intraabdominal calcification (4), polyhydramnios (4), enterolithiasis (4), hydrometrocolpos (3), and dilated ureter (3). We conclude that it is possible to suspect the diagnosis of cloaca, prenatally, more frequently than what currently occurs, looking at the same images but with an increased index of suspicion for cystic abdominal masses and a combination of gastrointestinal and urological abnormalities.

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Author and article information

Journal

Journal ID (nlm-ta): AJP Rep

Journal ID (iso-abbrev): AJP Rep

Journal ID (doi): 10.1055/s-00000169

Title: AJP Reports

Publisher: Thieme Medical Publishers (333 Seventh Avenue, New York, NY 10001, USA. )

ISSN (Print): 2157-6998

ISSN (Electronic): 2157-7005

Publication date (Electronic): 03 March 2014

Publication date (Print): May 2014

Volume: 4

Issue: 1

Pages: 33-36

Affiliations

[1 ]Department of Obstetrics and Gynecology, Robert Debré Hospital-AP-HP, Paris, France

[2 ]Department of Developmental Biology, Robert Debré Hospital-AP-HP, Paris, France

[3 ]Department of Pediatric Imaging, Robert Debré Hospital-AP-HP, Paris, France

[4 ]Laboratory of Biochemistry and Hormonology, Robert Debré Hospital-AP-HP, Paris, France

[5 ]Department of Pediatric Urology and Surgery, Robert Debré Hospital-AP-HP, Paris, France

Author notes

Address for correspondence Dr. Y. Chitrit, MD Department of Obstetrics and Gynecology, Robert Debré Hospital 48 Bd Sérurier, 75935 Paris cedex 19France yvon.chitrit@ 123456rdb.aphp.fr

Article

Publisher ID: 130030

DOI: 10.1055/s-0034-1370351

PMC ID: 4078163

SO-VID: ad4fdea5-d0b8-41d1-a20d-caddea26754e

History

Date received : 27 September 2013

Date accepted : 30 December 2013

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Cloaca in Discordant Monoamniotic Twins: Prenatal Diagnosis and Consequence for Fetal Lung Development

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Abstract

Most cited references 16

Anorectal malformations

Non-identical monozygotic twins, intermediate twin types, zygosity testing, and the non-random nature of monozygotic twinning: a review.

Prenatal diagnosis of cloacal malformations.

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Cited by 2

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