scholarly journals A Rare Case of Allantoic Cyst with Patent Urachus in Fetus with a Microdeletion in 1q21.1q21.2 Region

Diagnostics ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 2332
Author(s):  
Alexandra Bouariu ◽  
Ana Maria Scutelnicu ◽  
Anca Marina Ciobanu ◽  
Brîndușa Ana Cimpoca Raptis ◽  
Andreea Elena Dumitru ◽  
...  
Keyword(s):  
Rare Case ◽  
Chromosomal Abnormalities ◽  
Stone Formation ◽  
First Trimester ◽  
Patent Urachus ◽  
Ultrasound Assessment ◽  
Rare Malformation ◽  
Tract Infections ◽  
First Trimester Ultrasound

An allantoic cyst is a rare malformation with a frequency of 3 in 1,000,000 that may be seen antenatally by ultrasound assessment when the connection between the cloaca (future bladder) and the allantois fails to regress. A patent urachus that presents as a cyst (allantoic) is usually considered not to be associated with chromosomal abnormalities, but if it is not repaired after birth this leads to complications such as urinary tract infections and stone formation. We present a case of a fetus diagnosed with allantoic cyst at the first trimester ultrasound assessment at 12 weeks gestation. The follow up scans showed a decrease in size of the allantoic cyst with no other obvious major defects and, when invasive testing (amniocentesis with microarray analysis) was performed, a rare microdeletion, 1q21.1q21.2 was identified (1.82 Mb deletion).

First-Trimester Ultrasound Assessment of the Nasal Bone to Screen for Aneuploidy

2007 ◽  
Vol 110 (2, Part 1) ◽  
pp. 399-404 ◽  
Author(s):  
Todd Rosen ◽  
Mary E. DʼAlton ◽  
Lawrence D. Platt ◽  
Ronald Wapner
Keyword(s):  
Nasal Bone ◽  
First Trimester ◽  
Ultrasound Assessment ◽  
First Trimester Ultrasound

scholarly journals Case Report: Prenatal and Postnatal Management for Fetal Bronchogenic Cysts During the COVID-19 Pandemic

2021 ◽  
Vol 9 ◽  
Author(s):  
Lin Cheng ◽  
Jie Duan ◽  
Mei Wang ◽  
Dan Lu ◽  
Huan Li ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Rare Case ◽  
Bronchogenic Cyst ◽  
Chromosomal Abnormalities ◽  
Ultrasound Examination ◽  
Fetal Mri ◽  
Postnatal Management ◽  
Upper Mediastinum ◽  
Bronchogenic Cysts

Background: A fetal bronchogenic cyst (BC) is a rare congenital anomaly with an incidence of 0.147–0.238‰. The coronavirus disease 2019 (COVID-19) pandemic, as a particular situation, hindered pregnant women from receiving periodic prenatal checkups.Case Description: Until 34+6 weeks of gestation, a fetal case of the intrathoracic cyst was found by ultrasound examination. Further, MRI examination confirmed the diagnosis of the congenital mediastinal cystic lesion, probably a BC. Genetic testing was not conducted due to the COVID-19 pandemic. At 38+5 weeks of gestation with maternal COVID-19 testing negative, a live girl was delivered by cesarean section. Five months later, the child underwent bronchocystectomy, and the postoperative pathological lesions confirmed a (right upper mediastinum) BC.Conclusion: Herein, we reported the prenatal and postnatal management for a rare case of the congenital BC by multidisciplinary approaches during the COVID-19 pandemic. Fetal MRI and screening for fetal chromosomal abnormalities are especially recommended. This case contributes to the awareness that the COVID-19 pandemic interferes with regular follow-up schedules during pregnancy and may interfere with timely performed additional tests; which leads to more accurate genetic counseling. A combination of multidisciplinary approaches, including radiology, infection control, genetic counseling, obstetrics, and pediatric surgery, is pivotal for managing fetal BC during the COVID-19 pandemic.

Large primary vaginal stone in a woman with multiple sclerosis

2020 ◽  
Vol 13 (10) ◽  
pp. e235103
Author(s):  
S Lot Aronson ◽  
Marina C Hovius ◽  
Erica W M Janszen
Keyword(s):  
Multiple Sclerosis ◽  
Stone Formation ◽  
Intrauterine Device ◽  
Vaginal Wall ◽  
Contributing Factors ◽  
Macroscopic Haematuria ◽  
Gynaecological Examination ◽  
Tract Infections ◽  
Large Primary

Vaginal stones are rare and therefore a delay in accurate diagnosis often occurs. We present a 54-year old woman with multiple sclerosis who was diagnosed with a primary vaginal stone. Initially, she presented with recurring urinary tract infections (UTI) and macroscopic haematuria to the urologist. A cystoscopy showed no abnormalities. Because of persistent bleeding, she was referred to the gynaecologist, and on gynaecological examination, a vaginal stone was revealed. Stone formation was likely to be the result of urinary pooling due to incontinence, which was caused by a neurogenic bladder. Other contributing factors were prolonged recumbency, threads of an intrauterine device and a UTI. The presence of a vesicovaginal fistula was excluded by testing with methylene blue. The stone was surgically removed and composed of 70% struvite and 30% apatite. The patient was treated for decubitus ulcerations of the vaginal wall with estriol (Synapause-E3). Follow-up was uneventful.

scholarly journals Closure and augmentation of bladder exstrophy using rectus abdominis musculo-peritoneal flap

2011 ◽  
Vol 44 (03) ◽  
pp. 444-447
Author(s):  
P. Agarwal
Keyword(s):  
Urinary Tract ◽  
Stone Formation ◽  
Bladder Exstrophy ◽  
Bladder Capacity ◽  
Good Alternative ◽  
Rectus Abdominis ◽  
Electrolyte Disturbances ◽  
Peritoneal Flap ◽  
Tract Infections

ABSTRACT Background: The aim of this study was to investigate the efficacy of the rectus abdominis myo-peritoneal flap (RAMP) technique for the closure and augmentation of small, non-elastic, non-compliant bladder exstrophies. Materials and Methods: The RAMP technique was used in three boys with bladder exstrophy who presented late with small, non-elastic, non-compliant bladder. The clinical outcome, imaging, cystoscopy, biochemical and microbiological studies were assessed during a follow-up of 36 months. Results: Bladder closure and augmentation was achieved in all patients without any complications. There were no urinary tract infections, metabolic problems or electrolyte disturbances and the kidney function remained normal in all patients. Radiography confirmed intact function and anatomy of the urinary tract and cystoscopy showed complete coverage of the inner peritoneal layer of RAMP with uroepithelium. No stone formation or mucous production was detected. Conclusions: The RAMP technique is a good alternative for closing bladder exstrophies and achieves an increase in bladder capacity and compliance. The technique is indicated in the closure of large bladder defects, bladder exstrophies with small, inelastic, non-compliant bladder remnants and failed primary closures.

Diagnosis of Placental Position by Early First-Trimester Ultrasound: A Pilot Study

2019 ◽  
Vol 26 (11) ◽  
pp. 1512-1518 ◽  
Author(s):  
Laura Detti ◽  
Jennifer C. Gordon ◽  
Mary E. Christiansen ◽  
Nicole A. Van de Velde ◽  
Ludwig Francillon ◽  
...  
Keyword(s):  
Pilot Study ◽  
Cesarean Section ◽  
Transvaginal Ultrasound ◽  
First Trimester ◽  
Significant Difference ◽  
Gestational Sac ◽  
Twin Pregnancies ◽  
Anterior Posterior ◽  
First Trimester Ultrasound

Objective: Conventional wisdom is that placental location cannot be identified before 8 weeks’ gestation when the placenta first becomes hyperechogenic on ultrasound. We sought to evaluate whether placental location could be reliably diagnosed between 5 and 6 weeks’ gestation. Materials and Methods: This was a retrospective analysis of prospectively acquired data. Early placental location was diagnosed by evaluation of the embryonal and yolk sac position inside the gestational sac on transvaginal ultrasound. Placental position was described as anterior, posterior, fundal, or lateral. Early and mid-pregnancy placental locations were compared and coded as being the same, having migrated to an adjacent surface, or being on an opposite surface. Results: A total of 111 patients met study criteria, providing 141 placental locations, comprising 85 singleton and reduced pregnancies and 28 dichorionic twin pregnancies. The most common placental location was anterior in both singleton and twin/triplet pregnancies. Placental location at the mid-pregnancy ultrasound was consistent with early pregnancy location in 100% of cases, with 79.5% (112/141) being on the same surface and 20.5% (29/141) having expanded onto an adjacent surface. Placental location was not associated with pregnancy outcome, although our study may have been underpowered to detect a significant difference. Conclusions: Placental location diagnosed at 5 to 6 weeks’ gestation is consistent with the location on mid-pregnancy ultrasound. Excluding the presence of an ectopic, cornual, or cesarean section scar and uterine subseptation pregnancy in early first trimester would allow a more effective tailoring of pregnancy follow-up.

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