Prenatal Diagnosis of Beckwith-Wiedemann Syndrome Using 3D Ultrasound and Fetal MRI

Author(s):  
Heron Werner ◽  
Gabriele Tonni
2010 ◽  
pp. 279-286
Author(s):  
Mariella Mailáth-Pokorny ◽  
Daniela Prayer

2019 ◽  
Vol 300 (1) ◽  
pp. 235-236
Author(s):  
Daisuke Matsubara ◽  
Hironori Takahashi ◽  
Shigeki Matsubara

2003 ◽  
Vol 24 (06) ◽  
pp. 404-409
Author(s):  
C. Mittermayer ◽  
W. Blaicher ◽  
J. Deutinger ◽  
G. Bernaschek ◽  
A. Lee

2018 ◽  
Vol 37 (3) ◽  
pp. 216-221
Author(s):  
Gabriele Tonni ◽  
Gianpaolo Grisolia ◽  
Paolo Zampriolo ◽  
Edward Araujo Júnior ◽  
Rodrigo Ruano

2003 ◽  
Vol 12 (3) ◽  
pp. 143-153 ◽  
Author(s):  
Anne M Hubbard
Keyword(s):  

2008 ◽  
Vol 68 (2) ◽  
pp. 214-226 ◽  
Author(s):  
Denise Pugash ◽  
Peter C. Brugger ◽  
Dieter Bettelheim ◽  
Daniela Prayer

2012 ◽  
Vol 2 ◽  
pp. 40 ◽  
Author(s):  
Livia T. Rios ◽  
Edward Araujo ◽  
Ana C. R. Caetano ◽  
Luciano M. Nardozza ◽  
Antonio F. Moron ◽  
...  

The EEC syndrome is a genetic anomaly characterized by the triad: ectodermal dysplasia (development of anomalies of the structures derived from the embryonic ectodermal layer), ectrodactyly (extremities, hands and feet malformations) and cleft lip and/or palate; these malformations can be seen together or in isolation. The prenatal diagnosis can be made by two-dimensional ultrasonography (2DUS) that identifies the facial and/or limb anomalies, most characteristic being the “lobster-claw” hands. The three-dimensional ultrasonography (3DUS) provides a better analysis of the malformations than the 2DUS. A 25-year-old primigravida, had her first transvaginal ultrasonography that showed an unique fetus with crow-rump length of 47 mm with poorly defined hands and feet,. She was suspected of having sporadic form of EEC syndrome. The 2DUS performed at 19 weeks confirmed the EEC syndrome, showing a fetus with lobster-claw hands (absence of the 2nd and 3rd fingers), left foot with the absence of the 3rd toe and the right foot with syndactyly, and presence of cleft lip/palate. The 3DUS defined the anomalies much better than 2DUS including the lobster-claw hands.


2015 ◽  
Vol 40 (3) ◽  
pp. 235-240 ◽  
Author(s):  
Mariana L. Meyers ◽  
Timothy Crombleholme

Prenatal diagnosis of Hirschsprung's disease is extremely rare and has only been suggested by ultrasound. This report presents a 29-week fetus with heterotaxy and polysplenia syndrome and prenatal diagnosis of nonrotation of the bowel and Hirschsprung's disease by fetal MRI. None of the previously reported findings in the literature suggestive of distal bowel obstruction were noted in this case. Rather, there was a diminutive size of the rectosigmoid compared to the rest of the colon. Fetal MRI has become an important tool in the fetal diagnosis of multiple anomalies and can aid in perinatal and immediate postnatal care of patients, such as those with Hirschsprung's disease.


2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Burcu Artunc Ulkumen ◽  
Halil Gursoy Pala ◽  
Nalan Nese ◽  
Serdar Tarhan ◽  
Yesim Baytur

Congenital high airway obstruction syndrome (CHAOS) is the obstruction of the fetal upper airways, which may be partial or complete. It is usually incompatible with life. Prenatal recognition of the disease is quite important due to the recently described management options. We report here two cases of CHAOS due to tracheal atresia diagnosed by antenatal ultrasonography and fetal MRI. We also briefly review the relevant literature with the associated management options.


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