Prenatal Diagnosis of Hydrometrocolpos in a Down Syndrome Fetus Erik Dosedla, Marian Kacerovsky, Pavel Calda

Prenatal diagnosis of hydrometrocolpos in a Down syndrome fetus Erik Dosedla, Marian Kacerovsky, Pavel Calda

To cite this version:

Erik Dosedla, Marian Kacerovsky, Pavel Calda. Prenatal diagnosis of hydrometrocolpos in a Down syndrome fetus. Journal of Clinical Ultrasound, Wiley, 2011, 39 (3), pp.169. 10.1002/jcu.20785. hal-00607636

HAL Id: hal-00607636 https://hal.archives-ouvertes.fr/hal-00607636 Submitted on 10 Jul 2011

HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Journal of Clinical Ultrasound

Prenatal diagnosis of hydrometrocolpos in a Down syndrome fetus

For Peer Review

Journal: Journal of Clinical Ultrasound

Manuscript ID: JCU-10-024.R1

Wiley - Manuscript type: Case Report

Keywords: hydrometrocolpos, Down syndrome, ultrasound, prenatal diagnosis

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Prenatal diagnosis of hydrometrocolpos 1 2 3 4 5 6 7 8 9 10 11 12 13 14 Prenatal diagnosis of hydrometrocolpos in a Down syndrome fetus 15 16 17 18 19 20 For Peer Review 21 22 Short title: Hydrometrocolpos and Down syndrome 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60

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Prenatal diagnosis of hydrometrocolpos 1 2 3 Abstract 4 5 6 7 Prenatal diagnosis of hydrometrocolpos in a Down syndrome fetus caused by an imperforate 8 9 hymen, with spontaneous evacuation on the third day of life, is reported. In this case, 10 11 sonographic evaluation in the 37th week revealed a large retrovesical sharply marginated, 12 13 14 heterogeneous, unilocular cystic structure within the fetal abdomen extending to the left side 15 16 of the umbilicus. 17 18 19 20 For Peer Review 21 22 Introduction 23 24 25 26 Hydrometrocolpos is defined as dilatation of the vagina and uterus, either with mucous 27 28 content generated by uterine and cervical glands, mediated by maternal estrogen production 29 30 (secretory hydrometrocolpos or mucometrocolpos), or by accumulation of urine in the 31 32 1 33 presence of a vaginal obstruction (urinary hydrometrocolpos) . Hydrometrocolpos is a rare 34 35 congenital abnormality, with an incidence of 1:16,000 neonates 2-3. It is most commonly 36 37 3-5 38 discovered in the third trimester of pregnancy and makes up 15% of abdominal masses 39 40 found in female fetuses. Generally, reproductive outcomes in chromosomally normal fetuses 41 42 after drainage of the mucous collection are reported to be good 6. 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60

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Prenatal diagnosis of hydrometrocolpos 1 2 3 Case report 4 5 6 7 In October 2009, a 39-year-old woman, gravida 5, para 3, was referred to the 8 9 department at 37 weeks, 1 day of pregnancy because of a pathological cardiotocography 10 11 examination and suspicion of fetal growth restriction. 12 13 14 The mother’s family history was insignificant. She did not take any drugs from 15 16 conception through the first three months of pregnancy, but she smoked more than 20 17 18 cigarettes while pregnant. Exposure to other teratogens was negative. 19 20 For Peer Review 21 First-trimester aneuploidy screening was not performed, but the ultrasound 22 23 examination in the 14th week was reported to be normal. Serologies for toxoplasmosis, 24 25 rubella, cytomegalovirus, herpes simplex, HIV, hepatitis B surface antigen, and treponema 26 27 28 pallidum hemagglutination (TPHA) were negative. The triple test (AFP, hCG, and Estriol) 29 30 performed at 16 weeks was positive with a risk for trisomy 21 of 1:16. The mother was 31 32 33 counseled on the risk of a chromosomal abnormality, but refused invasive testing 34 35 (amniocentesis). Morphology ultrasound scan at 20 weeks of pregnancy was recommended, 36 37 but was not accepted by the pregnant woman. Ultrasound biometry and morphology 38 39 40 examination of the fetus performed in the 30th week were normal. 41 42 Upon the patient’s admission at 37 weeks, the ultrasound examination revealed a 43 44 living female singleton fetus with a composite sonographic age of 33 weeks, 4 days 45 46 47 (intrauterine growth restriction of over 4 weeks), anhydramnios, and pathological blood flow 48 49 in the umbilical artery (blood flow class II). A large retrovesical sharply marginated, 50 51 52 heterogeneous, unilocular cystic structure measuring 5.3 × 4.7 × 4.3 cm within the fetal 53 54 abdomen extending to the umbilical insertion was described. The anal canal and the rectum 55 56 were clearly visualized. There was no anomaly of the uropoetic system. Three-dimensional 57 58 59 datasets were also obtained, which were reviewed with tomographic ultrasound imaging 60

John Wiley & Sons Journal of Clinical Ultrasound Page 4 of 18

Prenatal diagnosis of hydrometrocolpos 1 2 3 (TUI) (Figures 1, 2). No other anomalies were found. The diagnosis of fetal 4 5 6 hydrometrocolpos was made based on sonographic findings. All scans were carried out with 7 8 an ultrasound system Voluson 730 Expert (GE Medical Systems, Milwaukee, WI, USA) 9 10 equipped with a convex 4-8 MHz abdominal transducer (RAB 4-8L). 11 12 13 Due to nonreassuring fetal status (biophysical profile 3/10), a female neonate of 2550g 14 15 with Apgar score of 6/9/10 was delivered the same day by cesarean section. The neonatal 16 17 18 examination revealed typical signs of Down syndrome and a mass in the lower and middle 19 20 abdomen, and a relativelyFor broad Peerhymen. The diagnosisReview of hydrometrocolpos was confirmed. 21 22 Hydrometrocolpos resolved spontaneously on the third day after delivery when the attending 23 24 25 physician observed a spontaneous discharge of mucous fluid. The abdominopelvic fluid- 26 27 filled cystic mass was not seen on a subsequent ultrasound examination. The final diagnosis 28 29 was hydrometrocolpos caused by an imperforate hymen, with spontaneous evacuation on the 30 31 32 third day of life. The newborn karyotype revealed trisomy 21 (Down syndrome). 33 34 35 36 Discussion 37 38 39 Every pelvic cystic mass in a female fetus can enter into differential diagnosis of 40 41 hydrometrocolpos. Hydrometrocolpos is present as retrovesical unilocular cystic oval or 42 43 44 funnel-like mass with low echogenicity, which is dependent on the intracystic content. It 45 46 is associated with many malformations like Klippel-Feil anomaly, McKusick-Kaufman 47 48 syndrome, Ellis van Creveld syndrome, and Bardet-Biedl syndrome. Usually, ovarian 49 50 51 cysts are rare unilateral hypoechogenic cystic masses. Urachal cysts are unilocular cysts 52 53 located between urinary bladder and umbilicus. The urinary tract obstruction appears 54 55 in most cases as an anechogenic dilatated megaurether, urinoma, or megavesica. 56 57 58 Anterior sacral meningocele is a very rare anechogenic cystic mass extending from the 59 60 sacrum to the urinary bladder. Sacrococcygeal teratoma arises in the presacral areas 4

John Wiley & Sons Page 5 of 18 Journal of Clinical Ultrasound

Prenatal diagnosis of hydrometrocolpos 1 2 3 and is the most common tumor of the newborn period. Type IV is completely internal 4 5 6 with no external component. Ultrasound appearance of the teratomas is very 7 8 heterogeneous – from solid to cystic, with high vascularity. 9 10 In hydrometrocolpos, mucous content accumulates due to imperforate hymen or 11 12 4,7 13 failure of Müllerian duct fusion . Imperforate hymen is a rare genital anomaly in 14 15 which a layer of epithelized connective tissue, which forms the hymen, has no opening 16 17 8 18 and completely obstructs the vaginal introitus . Prenatal ultrasound diagnosis of 19 9 20 hydrometrocolpos isFor rare . In Peer the present Review study, the ultrasound appearance of the 21 22 hydrometrocolpos was nearly solid because of the mucous content of the mass, and 23 24 25 therefore it would be more correct to use term mucometrocolpos . When 26 27 hydrometrocolpos is suspected, it is recommended that a detailed ultrasound 28 29 examination be performed to rule out associated malformations. The observation 30 31 32 revealed that the first ultrasound sign of hydrometrocolpos in a female fetus is 33 34 abdominal distension. It is important to examine the pelvis in all three orthogonal 35 36 planes. Therefore, TUI was used, which has advantages in studying complex fetal 37 38 10-12 39 lesions . A perspective of the topographic anatomy of the fetal abdomen and 40 41 informative images were obtained with TUI. The four-dimensional visualization allows 42 43 44 better understanding of the anatomic conditions and helps during the process of 45 46 prenatal parental counseling. 47 48 As reported earlier, the rectum and the anal canal were visualized and the kidneys were 49 50 51 intact, so complete cloacal dysgenesis as well as persistent urogenital sinus could be 52 53 ruled out. Postnatal confirmation of the hydrometrocolpos caused by imperforated 54 55 hymen is based on the presence of a lower abdominal mass in a female infant that does 56 57 13 58 not disappear after urinary bladder cathethrisation . Hydrometrocolpos associated 59 60 with 47, XXX karyotype and 45, XO karyotype has been described in two cases 14-15 . In 5

John Wiley & Sons Journal of Clinical Ultrasound Page 6 of 18

Prenatal diagnosis of hydrometrocolpos 1 2 3 the case of sonographically detected hydrometrocolpos, karyotypization of the fetus is 4 5 6 recommended, but invasive testing was rejected by the patient. 7 8 9 10 11 12 13 14 15 16 17 18 19 20 For Peer Review 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60

John Wiley & Sons Page 7 of 18 Journal of Clinical Ultrasound

Prenatal diagnosis of hydrometrocolpos 1 2 3 Reference 4 5 6 7 1. Westerhout FC, Jr., Hodgman JE, Anderson GV, et al. Congenital Hydrocolpos. Am J 8 9 Obstet Gynecol 1964;89:957. 10 11 2. Mirk P, Pintus C, Speca S. Ultrasound diagnosis of hydrocolpos: prenatal findings and 12 13 14 postnatal follow-up. J Clin Ultrasound 1994;22(1):55. 15 16 3. Romero R, Pilu Gianluigi, Jeanty P. Ghidini Alessandro, Hobbins John C. The Genital 17 18 tract. 1987 p: 301-310. 19 20 For Peer Review 21 4. Odibo AO, Turner GW, Borgida AF, et al. Late prenatal ultrasound features of 22 23 hydrometrocolpos secondary to cloacal anomaly: case reports and review of the 24 25 literature. Ultrasound Obstet Gynecol 1997;9(6):419. 26 27 28 5. Respondek-Liberska M, Krason A, Kaczmarek P, et al. Fetal hydrometrocolpos: not 29 30 only diagnostic but also therapeutic dilemmas. Ultrasound Obstet Gynecol 31 32 1998;11(2):155. 33 34 35 6. Geipel A, Berg C, Germer U, et al. Diagnostic and therapeutic problems in a case of 36 37 prenatally detected fetal hydrocolpos. Ultrasound Obstet Gynecol 2001;18(2):169. 38 39 40 7. Chen CP, Liu FF, Jan SW, et al. Ultrasound-guided fluid aspiration and prenatal 41 42 diagnosis of duplicated hydrometrocolpos with uterus didelphys and septate vagina. 43 44 Prenat Diagn 1996;16(6):572. 45 46 47 8. Adaletli I, Ozer H, Kurugoglu S, et al. Congenital imperforate hymen with 48 49 hydrocolpos diagnosed using prenatal MRI. AJR Am J Roentgenol 2007;189(1):W23. 50 51 9. Messina M, Severi FM, Bocchi C, et al. Voluminous perinatal pelvic mass: a case of 52 53 54 congenital hydrometrocolpos. J Matern Fetal Neonatal Med 2004;15(2):135. 55 56 57 58 59 60

John Wiley & Sons Journal of Clinical Ultrasound Page 8 of 18

Prenatal diagnosis of hydrometrocolpos 1 2 3 10. Kalache KD, Bamberg C, Proquitte H, et al. Three-dimensional multi-slice view: new 4 5 6 prospects for evaluation of congenital anomalies in the fetus. J Ultrasound Med 7 8 2006;25(8):1041. 9 10 11. Devore GR, Polanko B. Tomographic ultrasound imaging of the fetal heart: a new 11 12 13 technique for identifying normal and abnormal cardiac anatomy. J Ultrasound Med 14 15 2005;24(12):1685. 16 17 18 12. Goncalves LF, Espinoza J, Romero R, et al. Four-dimensional ultrasonography of the 19 20 fetal heart usingFor a novel TomographicPeer UltrasoundReview Imaging display. J Perinat Med 21 22 2006;34(1):39. 23 24 25 13. Saxena R, Divan G, Long AM, et al. Fetal hydrometrocolpos. Ultrasound Obstet 26 27 Gynecol 1993;3(5):360. 28 29 14. Hood OJ, Hartwell EA, Shattuck KE, et al. Multiple congenital anomalies associated 30 31 32 with a 47,XXX chromosome constitution. Am J Med Genet 1990;36(1):73. 33 34 15. Koeberl DD, McGillivray B, Sybert VP. Prenatal diagnosis of 45,X/46,XX mosaicism 35 36 and 45,X: implications for postnatal outcome. Am J Hum Genet 1995;57(3):661. 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60

John Wiley & Sons Page 9 of 18 Journal of Clinical Ultrasound

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 For Peer Review 19 20 21 22 23 24 25 26 27 28 29 30 31 Figure 1. Tomographic ultrasound imaging of fetal pelvis shows a set of sagittal slices which 32 demonstrate a large retrovesical hydrometrocolpos. 33 246x177mm (72 x 72 DPI) 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 John Wiley & Sons Journal of Clinical Ultrasound Page 10 of 18

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 For Peer Review 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 Figure 2. Coronal static 3D image combined with volume contrast imaging in C-Plane (VCI-C 49 improves tissue contrast resolution in real-time, coronal plane imaging) shows a pelvic cystic mass 50 (hydrometrocolpos) marked with arrow. 101x190mm (96 x 96 DPI) 51 52 53 54 55 56 57 58 59 60 John Wiley & Sons Page 11 of 18 Journal of Clinical Ultrasound

Prenatal diagnosis of hydrometrocolpos 1 2 3 4 5 6 7 8 9 10 11 Prenatal diagnosis of hydrometrocolpos in a Down syndrome fetus 12 13 14 15 16 17 Short title: Hydrometrocolpos and Down syndrome 18 19 20 For Peer Review 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 1 52 53 54 55 56 57 58 59 60

John Wiley & Sons Journal of Clinical Ultrasound Page 12 of 18

Prenatal diagnosis of hydrometrocolpos 1 2 Abstract 3 4 5 Prenatal diagnosis of hydrometrocolpos in a Down syndrome fetus caused by an imperforate 6 7 hymen, with spontaneous evacuation on the third day of life, is reported. In this case, 8 9 sonographic evaluation in the 37th week revealed a large retrovesical sharply marginated, 10 11 heterogeneous, unilocular cystic structure within the fetal abdomen extending to the left side Deleted: We used four-dimensional ultrasound tomographic imaging in 12 studying the complex fetal lesion. To 13 of the umbilicus. date, there is no evidence of association between hydrometrocolpos and Down 14 syndrome. 15 16 17 18 Introduction 19 20 For Peer Review 21 Hydrometrocolpos is defined as dilatation of the vagina and uterus, either with mucous 22 23 content generated by uterine and cervical glands, mediated by maternal estrogen production 24 25 (secretory hydrometrocolpos or mucometrocolpos), or by accumulation of urine in the

26 1 27 presence of a vaginal obstruction (urinary hydrometrocolpos) . Hydrometrocolpos is a rare

28 2-3 29 congenital abnormality, with an incidence of 1:16,000 neonates . It is most commonly

30 3-5 31 discovered in the third trimester of pregnancy and makes up 15% of abdominal masses 32 found in female fetuses. Generally, reproductive outcomes in chromosomally normal fetuses 33 34 after drainage of the mucous collection are reported to be good 6. 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 2 52 53 54 55 56 57 58 59 60

John Wiley & Sons Page 13 of 18 Journal of Clinical Ultrasound

Prenatal diagnosis of hydrometrocolpos 1 2 Case report 3 4 5 In October 2009, a 39-year-old woman, gravida 5, para 3, was referred to the 6 7 department at 37 weeks, 1 day of pregnancy because of a pathological cardiotocography 8 9 examination and suspicion of fetal growth restriction. 10 11 The mother’s family history was insignificant. She did not take any drugs from 12 13 conception through the first three months of pregnancy, but she smoked more than 20 14 15 cigarettes while pregnant. Exposure to other teratogens was negative. 16 17 First-trimester aneuploidy screening was not performed, but the ultrasound 18 19 examination in the 14th week was reported to be normal. Serologies for toxoplasmosis, 20 For Peer Review 21 rubella, cytomegalovirus, herpes simplex, HIV, hepatitis B surface antigen, and treponema 22 23 pallidum hemagglutination (TPHA) were negative. The triple test (AFP, hCG, and Estriol) 24 performed at 16 weeks was positive with a risk for trisomy 21 of 1:16. The mother was 25 26 counseled on the risk of a chromosomal abnormality, but refused invasive testing 27 28 (amniocentesis). Morphology ultrasound scan at 20 weeks of pregnancy was recommended, 29 30 but was not accepted by the pregnant woman. Ultrasound biometry and morphology 31 32 examination of the fetus performed in the 30th week were normal. 33 34 Upon the patient’s admission at 37 weeks, the ultrasound examination revealed a 35 36 living female singleton fetus with a composite sonographic age of 33 weeks, 4 days 37 38 (intrauterine growth restriction of over 4 weeks), anhydramnios, and pathological blood flow 39 40 in the umbilical artery (blood flow class II). A large retrovesical sharply marginated, 41 42 heterogeneous, unilocular cystic structure measuring 5.3 × 4.7 × 4.3 cm within the fetal 43 44 abdomen extending to the umbilical insertion was described. The anal canal and the rectum 45 46 were clearly visualized. There was no anomaly of the uropoetic system. Three-dimensional 47 48 datasets were also obtained, which were reviewed with tomographic ultrasound imaging 49 50 51 3 52 53 54 55 56 57 58 59 60

John Wiley & Sons Journal of Clinical Ultrasound Page 14 of 18

Prenatal diagnosis of hydrometrocolpos 1 2 (TUI) (Figures 1, 2). No other anomalies were found. The diagnosis of fetal 3 4 hydrometrocolpos was made based on sonographic findings. All scans were carried out with 5 6 an ultrasound system Voluson 730 Expert (GE Medical Systems, Milwaukee, WI, USA) 7 8 equipped with a convex 4-8 MHz abdominal transducer (RAB 4-8L). 9 Deleted: imminent fetal hypoxia 10 Due to nonreassuring fetal status (biophysical profile 3/10), a female neonate of 2550g 11 12 with Apgar score of 6/9/10 was delivered the same day by cesarean section. The neonatal 13 14 examination revealed typical signs of Down syndrome and a mass in the lower and middle 15 16 abdomen, and a relatively broad hymen. The diagnosis of hydrometrocolpos was confirmed. 17 18 Hydrometrocolpos resolved spontaneously on the third day after delivery when the attending 19 20 physician observed a spontaneousFor discharge Peer of mucous fluid.Review The abdominopelvic fluid- 21 22 filled cystic mass was not seen on a subsequent ultrasound examination. The final diagnosis 23 24 was hydrometrocolpos caused by an imperforate hymen, with spontaneous evacuation on the 25 26 third day of life. The newborn karyotype revealed trisomy 21 (Down syndrome). 27 28 29 30 Discussion Deleted: The differential diagnostic 31 features of hydrometrocolpos are 32 Every pelvic cystic mass in a female fetus can enter into differential diagnosis of summarized in Table 1. 33 34 hydrometrocolpos. Hydrometrocolpos is present as retrovesical unilocular cystic oval or 35 36 funnel-like mass with low echogenicity, which is dependent on the intracystic content. It 37 38 is associated with many malformations like Klippel-Feil anomaly, McKusick-Kaufman 39 40 syndrome, Ellis van Creveld syndrome, and Bardet-Biedl syndrome. Usually, ovarian 41 cysts are rare unilateral hypoechogenic cystic masses. Urachal cysts are unilocular cysts 42 43 located between urinary bladder and umbilicus. The urinary tract obstruction appears 44 45 in most cases as an anechogenic dilatated megaurether, urinoma, or megavesica. 46 47 Anterior sacral meningocele is a very rare anechogenic cystic mass extending from the 48 49 sacrum to the urinary bladder. Sacrococcygeal teratoma arises in the presacral areas 50 51 4 52 53 54 55 56 57 58 59 60

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Prenatal diagnosis of hydrometrocolpos 1 2 and is the most common tumor of the newborn period. Type IV is completely internal 3 4 with no external component. Ultrasound appearance of the teratomas is very 5 6 heterogeneous – from solid to cystic, with high vascularity. 7 8 In hydrometrocolpos, mucous content accumulates due to imperforate hymen or 9 10 failure of Müllerian duct fusion 4,7 . Imperforate hymen is a rare genital anomaly in 11 12 which a layer of epithelized connective tissue, which forms the hymen, has no opening 13 14 and completely obstructs the vaginal introitus 8. Prenatal ultrasound diagnosis of 15 16 hydrometrocolpos is rare 9. In the present study, the ultrasound appearance of the 17 18 hydrometrocolpos was nearly solid because of the mucous content of the mass, and 19 20 therefore it would be For more correct Peer to use termReview mucometrocolpos . When 21 22 hydrometrocolpos is suspected, it is recommended that a detailed ultrasound 23 24 examination be performed to rule out associated malformations. The observation 25 26 revealed that the first ultrasound sign of hydrometrocolpos in a female fetus is 27 28 abdominal distension. It is important to examine the pelvis in all three orthogonal 29 30 planes. Therefore, TUI was used, which has advantages in studying complex fetal

31 10-12 32 lesions . A perspective of the topographic anatomy of the fetal abdomen and 33 34 informative images were obtained with TUI. The four-dimensional visualization allows 35 36 better understanding of the anatomic conditions and helps during the process of 37 38 prenatal parental counseling. 39 40 As reported earlier, the rectum and the anal canal were visualized and the kidneys were 41 intact, so complete cloacal dysgenesis as well as persistent urogenital sinus could be 42 43 ruled out. Postnatal confirmation of the hydrometrocolpos caused by imperforated 44 45 hymen is based on the presence of a lower abdominal mass in a female infant that does 46 47 13 not disappear after urinary bladder cathethrisation . Hydrometrocolpos associated 48 49 with 47, XXX karyotype and 45, XO karyotype has been described in two cases 14-15 . In 50 51 5 52 53 54 55 56 57 58 59 60

John Wiley & Sons Journal of Clinical Ultrasound Page 16 of 18

Prenatal diagnosis of hydrometrocolpos 1 2 the case of sonographically detected hydrometrocolpos, karyotypization of the fetus is 3 Deleted: To date, there is no evidence 4 of association between hydrometrocolpos recommended, but invasive testing was rejected by the patient. and trisomy 21 (Down syndrome). 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 For Peer Review 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 6 52 53 54 55 56 57 58 59 60

John Wiley & Sons Page 17 of 18 Journal of Clinical Ultrasound

Prenatal diagnosis of hydrometrocolpos 1 2 Reference 3 4 5 1. Westerhout FC, Jr., Hodgman JE, Anderson GV, et al. Congenital Hydrocolpos. Am J 6 7 Obstet Gynecol 1964;89:957. 8 9 2. Mirk P, Pintus C, Speca S. Ultrasound diagnosis of hydrocolpos: prenatal findings and 10 11 postnatal follow-up. J Clin Ultrasound 1994;22(1):55. 12 13 3. Romero R, Pilu Gianluigi, Jeanty P. Ghidini Alessandro, Hobbins John C. The Genital 14 15 tract. 1987 p: 301-310. 16 4. Odibo AO, Turner GW, Borgida AF, et al. Late prenatal ultrasound features of 17 18 hydrometrocolpos secondary to cloacal anomaly: case reports and review of the 19 20 literature. Ultrasound ObstetFor Gynecol Peer 1997;9(6):419 .Review 21 22 5. Respondek-Liberska M, Krason A, Kaczmarek P, et al. Fetal hydrometrocolpos: not 23 24 only diagnostic but also therapeutic dilemmas. Ultrasound Obstet Gynecol 25 26 1998;11(2):155. 27 28 6. Geipel A, Berg C, Germer U, et al. Diagnostic and therapeutic problems in a case of 29 30 prenatally detected fetal hydrocolpos. Ultrasound Obstet Gynecol 2001;18(2):169. 31 32 7. Chen CP, Liu FF, Jan SW, et al. Ultrasound-guided fluid aspiration and prenatal 33 34 diagnosis of duplicated hydrometrocolpos with uterus didelphys and septate vagina. 35 36 Prenat Diagn 1996;16(6):572. 37 38 8. Adaletli I, Ozer H, Kurugoglu S, et al. Congenital imperforate hymen with 39 40 hydrocolpos diagnosed using prenatal MRI. AJR Am J Roentgenol 2007;189(1):W23. 41 42 9. Messina M, Severi FM, Bocchi C, et al. Voluminous perinatal pelvic mass: a case of 43 44 congenital hydrometrocolpos. J Matern Fetal Neonatal Med 2004;15(2):135. 45 46 47 48 49 50 51 7 52 53 54 55 56 57 58 59 60

John Wiley & Sons Journal of Clinical Ultrasound Page 18 of 18

Prenatal diagnosis of hydrometrocolpos 1 2 10. Kalache KD, Bamberg C, Proquitte H, et al. Three-dimensional multi-slice view: new 3 4 prospects for evaluation of congenital anomalies in the fetus. J Ultrasound Med 5 6 2006;25(8):1041. 7 8 11. Devore GR, Polanko B. Tomographic ultrasound imaging of the fetal heart: a new 9 10 technique for identifying normal and abnormal cardiac anatomy. J Ultrasound Med 11 12 2005;24(12):1685. 13 14 12. Goncalves LF, Espinoza J, Romero R, et al. Four-dimensional ultrasonography of the 15 16 fetal heart using a novel Tomographic Ultrasound Imaging display. J Perinat Med 17 18 2006;34(1):39. 19 Deleted: 13. Dosedla E, Fric D, Calda P. Prenatal diagnosis of pentalogy of 20 13. Saxena R, Divan G, LongFor AM, et al.Peer Fetal hydrometrocolpos. Review Ultrasound Obstet Cantrell in the third trimester. Prague 21 Med Rep 2009(1):5.¶ 22 Gynecol 1993;3(5):360. 23 24 14. Hood OJ, Hartwell EA, Shattuck KE, et al. Multiple congenital anomalies associated 25 26 with a 47,XXX chromosome constitution. Am J Med Genet 1990;36(1):73. 27 28 15. Koeberl DD, McGillivray B, Sybert VP. Prenatal diagnosis of 45,X/46,XX mosaicism 29 30 and 45,X: implications for postnatal outcome. Am J Hum Genet 1995;57(3):661. Deleted: 17. Calda P, Brestak M. 31 Amniovacucentesis vs standard syringe 32 technique for amniocentesis: experience with 1219 cases. Am J Obstet Gynecol 33 2009;201(6):593 e1. 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 8 52 53 54 55 56 57 58 59 60

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