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Jean-pierre Fryns - One of the best experts on this subject based on the ideXlab platform.
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Fetal Hydrometrocolpos, uterus didelphys with low vaginal and anal atresia: difficulties in differentiation from a complex cloacal malformation: a case report.
Genetic counseling (Geneva Switzerland), 2012Co-Authors: I Witters, L Meylaerts, H Peeters, A. Coumans, Soetinah Wirjosoekarto, Jean-pierre FrynsAbstract:Summary: Fetal Hydrometrocolpos, uterus didelphys with low vaginal and anal atresia: difficulties in differentiation from a complex cloacal malformation: a case report: Hydrometrocolpos, occurring in approximately 1/6000 newborn girls, can be caused by a stenotic urogenital sinus, a severe cloacal malformation, but also by other conditions such as an imperforate hymen, a midline vaginal septum and vaginal atresia. The prenatal differential diagnosis of this wide spectrum of conditions is not easy and requires a multidisciplinary approach with follow-up scans and MRI to access the severity of the condition.A non-consanguineous couple was referred in the first pregnancy at 30 weeks. The father, 30 years of age, of Kaukasian origin, and the mother of Asian origin, 26 years of age. Ultrasound at 30 weeks revealed ambiguous genitalia (with suspicion of clitoral hypertrophy), a septated structure located behind the bladder compatible with Hydrometrocolpos with a uterine malformation (uterus didelphys), a single umbilical artery, mild ascites and growth on the tenth centile. The differential diagnosis included a vaginal atresia, a urogenital sinus and a more severe cloacal malformation. After serial scans, MRI and counselling by an experienced surgeon the preferential diagnosis of a cloacal malformation was made and a late pregnancy termination was performed. Pathological examination revealed :low vaginal atresia with uterus didelphys, anal atresia with rectovaginal fistula and a normal urinary tractus.The differential diagnosis between Hydrometrocolpos due to vaginal atresia or due to a more severe cloacal malformation is not straightforward. Care should be taken in decision making and counselling patients with these complex prenatal malformations.Key-words: Multiple congenital anomalies - Fetal malformation - Anogenital anomaliesINTRODUCTIONThis report describes a third trimester diagnosis of Hydrometrocolpos due to a low vaginal atresia with anal atresia and the difficulty in differentiation from a complex cloacal dysgenesis.CASE REPORTThe couple, without medical history, was referred at 30 weeks gestation by the local gynecologist with the ultrasound diagnosis of a single umbilical artery in their first pregnancy. Follow-up examinations in the first and second trimesters of pregnancy occurred abroad.Ultrasound at 30 weeks revealed ambiguous genitalia (with suspicion of clitoral hypertrophy), a septated structure located behind the bladder compatible with a uterine malformation, a single umbilical artery, mild ascites and growth on the tenth centile (Fig. 1).To differentiate between a vaginal atresia, a urogenital sinus malformation and a more severe cloacal malformation additionally an MRI scan was performed confirming the septated structure posteriorly from the bladder suspicious of a Hydrometrocolpos, the ascites likely due to intraabdominal spil, meconium filling of the rectum but possible anorectal atresia and the other ultrasonografically described malformations (Figs 2-3).After referral to a tertiary center the likely diagnosis of a cloacal dysgenesis was made and the couple was councelled abroad by an experienced surgeon in the field of cloacal anomalies. Due to the infaust prognosis given by the surgeon the couple had a third trimester pregnancy termination in another center.Pathological examination revealed : a female fetus (weight 1900 g, length 43 cm, head circumference 30 cm) with a single umbilical artery, a low vaginal atresia with doubled vagina, uterus didelphys and secondary Hydrometrocolpos and due to the pressure of the Hydrometrocolpos a mild hydronephrosis with otherwise normal urinary tract. Additionally an anal atresia with rectovaginal fistula was present.DISCUSSIONA cloacal malformation is not common with an estimated incidence of 1/50000 births.Typically in cloacal malformation there is a common opening for the urinary, genital and gastrointestinal tract. …
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mckusick kaufman syndrome the diagnostic challenge of abdominal distension in the neonatal period
European Journal of Pediatrics, 1992Co-Authors: C Schaap, R H Kuijten, Christine E M De Diesmulders, Jean-pierre FrynsAbstract:We report a newborn girl with McKusick-Kaufman syndrome who presented at birth with severe life-threatening abdominal distension due to Hydrometrocolpos. In children with polydactyly and cystic masses in the lower abdomen should Hydrometrocolpos be especially considered. Ultrasonography is of great value in the correct assignment of lower abdominal tumours, but should be completed by vagino(cysto)scopy when Hydrometrocolpos is suspected.
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Abdominal distension as the first echographic sign of Hydrometrocolpos in a female fetus
European Journal of Obstetrics & Gynecology and Reproductive Biology, 1991Co-Authors: Paul Petit, Philippe Moerman, Daniel Thomas, Jean-pierre FrynsAbstract:Abstract We report a 31 weeks gestation female fetus with marked abdominal distension on echography as the first sign of Hydrometrocolpos. Postmortem examination revealed a massive plastic peritonitis due to the spillage of genital secretions into the peritoneal cavity with secondary lung hypoplasia and obstructive renal dysplasia type IV.
Chihping Chen - One of the best experts on this subject based on the ideXlab platform.
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prenatal diagnosis of persistent cloaca with Hydrometrocolpos and ascites by magnetic resonance imaging in one fetus of a dizygotic twin pregnancy
Taiwanese Journal of Obstetrics & Gynecology, 2010Co-Authors: Chihping Chen, Yu Peng Liu, Tung Yao Chang, Fuu Jen Tsai, Chenyu Chen, Teresa Hsiao Tien Chen, Wayseen WangAbstract:A 34-year-old primigravid woman presented at 29 weeks of gestation for evaluation of fetal ascites and an intraabdominal echogenic cystic mass (Figure 1) in one twin of a twin pregnancy. The woman had not undergone any assisted reproductive technology. Aspiration of the ascites and the cystic mass revealed multiple epithelial cells and cytogenetic analysis demonstrated a 46,XX karyotype in the affected co-twin. Ultrasound following aspiration showed a distended vagina connecting to the uterine cavity and compressing the urinary bladder (Figure 2). Ultrafast magnetic resonance imaging (MRI) of the affected co-twin revealed massive ascites, a compressed urinary bladder, a distended vagina, a dilated uterus, and a dilated distal colon, consistent with a diagnosis of persistent cloaca with Hydrometrocolpos and ascites (Figure 3). The unaffected co-twin (1,306 g) and affected co-twin (2,108 g) were delivered uneventfully by cesarean section at 31 weeks of gestation. Both twins had a karyotype of 46,XX. A zygosity test determined dizygosity. The affected co-twin had meconium peritonitis, urinary ascites, and a persistent cloaca. The urinary, genital, and intestinal tracts converged into a cloacal canal with a single opening at the perineum. The ascites was caused by drainage of the urine into the abdominal cavity via the vagina, the uterus and the Fallopian tubes, as well as by irritation of the peritoneum by urine and meconium. Hydrometrocolpos was caused by fluid accumulation resulting from distal vaginal obstruction through backward pressure from the cloacal canal. The Hydrometrocolpos compressed the bladder causing partial bladder outlet obstruction. Dilation of the distal colon was caused by direct compression from the Hydrometrocolpos and narrowing of the rectal communication. The affected infant was doing well at 1 year and 6 months of age, after corrective reconstructive surgery. A persistent cloaca results from failure or maldevelopment of the urorectal septum that divides the urogenital sinus and anorectal canal [1]. Hydrometrocolpos
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Fetal MRI of Hydrometrocolpos with septate vagina and uterus didelphys as well as massive urinary ascites due to cloacal malformation
Pediatric Radiology, 2009Co-Authors: Yu Peng Liu, Chihping ChenAbstract:A 31-year-old woman at 30 weeks’ gestation was referred for evaluation of a fetal pelvic cystic mass found at prenatal US. MRI showed a fluid-filled mass (Fig. 1, arrows) with a midline septum connected to a dilated duplicated uterus (Fig. 1, arrowheads) giving a ‘rabbit ears’ appearance consistent with Hydrometrocolpos with septate vagina and uterus didelphys. There was also massive ascites (Fig. 1, asterisks). The diagnosis was confirmed at autopsy. Hydrometrocolpos is a rare congenital disorder with cystic dilatation of the vagina and uterus as a result of accumulated secretions from the reproductive tract due to vaginal outflow obstruction, or collected fetal urine due to an obstructed cloacal common channel [1, 2]. Cloacal malformation may be associated with a duplicated genital tract or fetal urinary ascites. The ascites is usually transient. Fetal urine initially drains via the vagina, uterus and fallopian tubes into the peritoneal cavity causing urinary ascites. As the condition progresses, the irritation from the urine and meconium causes obstruction of the fallopian tubes, the development of Hydrometrocolpos and disappearance of the ascites [2].
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Ultrasound-guided fluid aspiration and prenatal diagnosis of duplicated Hydrometrocolpos with uterus didelphys and septate vagina.
Prenatal Diagnosis, 1996Co-Authors: Chihping Chen, Fen-fen Liu, Sheau-wen Jan, Pei-yeh Chang, Yun-nan Lin, Chung-chi LanAbstract:We report on a case of duplicated Hydrometrocolpos with uterus didelphys, a septate vagina, lower vaginal atresia, a persistent urogenital sinus, left ear agenesis, a single umbilical artery, and an imperforate anus, but without the associated features of McKusick-Kaufman syndrome such as polydactyly and congenital heart defects. Ultrasound-guided fluid aspiration of the fetal intrapelvic cystic mass helped to decompress the distended genital organs, decrease the severity of the urinary tract obstruction, delineate the ultrasonographic image of duplicated Hydrometrocolpos to differentiate it from other intrapelvic cystic masses, and obtain fluid for cytological analysis.
Hulya Ozturk - One of the best experts on this subject based on the ideXlab platform.
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The Role of Ultrasound in the Diagnosis of Hydrometrocolpos due to Vaginal Atresia; Case Report
2015Co-Authors: Sevil Altunrende, Arzu Canan, Hulya OzturkAbstract:Introduction: Neonatal Hydrometrocolpos is a rare anomaly of female reproductive tract secondary to failure of canalization. Newborn may present with abdominal mass and rarely with hydroureteronephrosis. Case: We reported sonographic features of a huge Hydrometrocolpos secondary to high vaginal atresia concomitant with bilaterally hydroureteronephrosis in a 3-day-old girl.
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due to Vaginal Atresia; Case Report Vajinal Atrezi Nedeniyle Gelişen Hidrometrokolpos Tanısında Ultrasonun Rolü; Olgu Sunumu
2015Co-Authors: Sevil Altunrende, Arzu Canan, Hulya OzturkAbstract:Giriş: Neonatal hidrometrokolpos kadın üreme yollarının gelişim defektine bağlı gelişen nadir bir anomalisidir. Yenidoğanda genellikle abdominal kitle, nadiren hidroüreteronefroz ile presente olur. Olgu: Bu yazıda 3 günlük yenidoğanda yüksek va- jinal atreziye bağlı gelişen dev hidrometrokolpos ve eşlik eden bilateral hidroüreteronefrozun sonogra- fik bulgularını sunduk. Sonuç: Ultrason abdominal kitlenin orijini ve komplikasyonlarını ortaya koyabilen önemli bir ta- nısal modalitedir.Introduction: Neonatal Hydrometrocolpos is a rare anomaly of female reproductive tract secondary to failure of canalization. Newborn may present with abdominal mass and rarely with hydroureteroneph- rosis. Case: We reported sonographic features of a huge Hydrometrocolpos secondary to high vaginal atresia concomitant with bilaterally hydroureteronephro- sis in a 3-day-old girl. Conclusion: Ultrasonography is essential diagnos- tic modality which brings out nature of abdominal mass and its complications. Keywords: Hydrometrocolpos; hydroureteroneph- rosis; ultrasonography; vaginal atresi
Luís M. Graça - One of the best experts on this subject based on the ideXlab platform.
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Prenatal Diagnosis of Persistent Urogenital Sinus with Duplicated Hydrometrocolpos and Ascites – A Case Report
Fetal Diagnosis and Therapy, 2010Co-Authors: Joana Pauleta, Maria Antonieta Melo, Gertrudes Borges, Rui Carvalho, João Paulo Marques, Juliette Dupont, Cecília Pardal Monteiro, Luís M. GraçaAbstract:We report a successful case of persistent urogenital sinus associated with a duplicated nonsyndromic form of Hydrometrocolpos and ascites diagnosed prenatally. Though urogenital malformations are extr
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prenatal diagnosis of persistent urogenital sinus with duplicated Hydrometrocolpos and ascites a case report
Fetal Diagnosis and Therapy, 2010Co-Authors: Joana Pauleta, Maria Antonieta Melo, Gertrudes Borges, Rui Carvalho, João Paulo Marques, Juliette Dupont, Cecília Pardal Monteiro, Luís M. GraçaAbstract:We report a successful case of persistent urogenital sinus associated with a duplicated nonsyndromic form of Hydrometrocolpos and ascites diagnosed prenatally. Though urogenital malformations are extr
Hakan Poyrazoglu - One of the best experts on this subject based on the ideXlab platform.
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distal vaginal atresia resulting in obstructive uropathy accompanied by acute renal failure
Clinical and Experimental Nephrology, 2007Co-Authors: Ismail Dursun, Zubeyde Gunduz, Mustafa Kucukaydin, Afra Yildirim, Aysegul Yilmaz, Hakan PoyrazogluAbstract:Children with Hydrometrocolpos due to distal vaginal atresia may present with severe obstructive uropathy. Here we report a 27-day-old infant with a Hydrometrocolpos causing life-threatening renal failure. Percutaneous drainage of the Hydrometrocolpos resulted in dramatically improved clinical and laboratory findings in the patient.
