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

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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 John Wiley & Sons Page 1 of 18 Journal of Clinical Ultrasound 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 1 John Wiley & Sons Journal of Clinical Ultrasound Page 2 of 18 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 2 John Wiley & Sons Page 3 of 18 Journal of Clinical Ultrasound 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 3 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 Reviewstudy, 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 .
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