scholarly journals EP07.02: First trimester ultrasound findings for detecting rare chromosomal aberrations

2018 ◽  
Vol 52 ◽  
pp. 220-220
Author(s):  
Y. Nakamura ◽  
S. Fujita ◽  
A. Tajima ◽  
M. Song ◽  
J. Matsumoto-Runser ◽  
...  
Author(s):  
George M Graham

Abstract Improvements in ultrasound technology, including transvaginal sonography and higher frequency probes, have led to a better understanding of early pregnancy development. These advances and the increasing availability of ultrasound allow women to have an earlier and more accurate assessment of their pregnancy. First trimester sonographic signs have been identified that can be used to reassure women that their pregnancy is progressing normally or counsel them that their pregnancy will fail. In addition, first trimester ultrasound can accurately predict the type of twinning in multiple gestations, allowing for appropriate counseling and management. Objectives Know the first trimester ultrasound findings of a normal intrauterine pregnancy Understand the ultrasound findings that diagnose an early pregnancy failure Know the ultrasound criteria used to diagnose a multifetal gestation


2016 ◽  
Vol 30 (13) ◽  
pp. 1632-1636 ◽  
Author(s):  
Marcin Wiechec ◽  
Anna Knafel ◽  
Agnieszka Nocun ◽  
Ewa Wiercinska ◽  
Artur Ludwin ◽  
...  

2006 ◽  
Vol 73 (5) ◽  
pp. 271-276
Author(s):  
Hidehiko Miyake ◽  
Akihito Nakai ◽  
Takashi Shimada ◽  
Toshiyuki Takeshita

2019 ◽  
Vol 12 (12) ◽  
pp. e231705
Author(s):  
Joana Isabel Igreja da Silva ◽  
Barbara Ribeiro ◽  
Alexandra Cadilhe ◽  
Cristina Nogueira-Silva

We present a case of a 34-year-old multiparous woman who had been diagnosed with a 14 weeks’ gestation showing an abdominal wall bulge possibly representing an omphalocele, containing liver and intestinal loops, at her first-trimester ultrasound scan. At 16 weeks’ gestation, an amniocentesis was performed and karyotype analysis revealed a balanced Robertsonian translocation between chromosomes 13 and 14 in a female fetus (45,XX,der(13;14)(q10;q10)). Given this result and ultrasound findings, karyotype and molecular study of the couple were suggested. The results pointed out the absence of maternal contribution to the analysed regions by paternal uniparental disomy for chromosome 14 (isodisomy), which is associated with a severe phenotype. The correlation between ultrasound findings and the genetic study is primordial to guide the diagnostic assessment and to establish the prognosis of the fetal pathology.


2006 ◽  
Vol 28 (4) ◽  
pp. 514-515
Author(s):  
B. De Castro ◽  
A. Borrell ◽  
V. Borobio ◽  
A. Gonce ◽  
O. Coll ◽  
...  

Author(s):  
J. Stirnemann ◽  
M. Massoud ◽  
N. Fries ◽  
C. Dumont ◽  
G. Haddad ◽  
...  

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