Prenatal ultrasound-assisted identification of multiple malformations caused by a deletion in the long-arm end of chromosome 7 and review of the literature

2020 ◽  
pp. 1-5
Author(s):  
Xuliang Zhao ◽  
Weiwei Sun ◽  
Jian-an Jia ◽  
Zhuojun Wei ◽  
Xu Li ◽  
...  
Keyword(s):  
Prenatal Ultrasound ◽  
Chromosome 7 ◽  
Review Of The Literature ◽  
Ultrasound Assisted

Experience of prenatal diagnosis of true knots of the umbilical cord during ultrasound examination in the third trimester of gestation

2019 ◽  
Author(s):  
M.Y. Morozova, V.V. Zotov, M.S. Kovalenko et all
Keyword(s):  
Prenatal Diagnosis ◽  
Umbilical Cord ◽  
Ultrasound Examination ◽  
Technological Advance ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Review Of The Literature ◽  
Third Trimester ◽  
The Third

Despite the rapid technological advance, the expansion of prenatal ultrasound diagnosis, as well as the accumulation of experience by both domestic and foreign experts, prenatal recognition of true knots of the umbilical cord causes significant difficulties. Three cases of successful ultrasound diagnosis of true knots of the umbilical cord and brief review of the literature are presented.

scholarly journals De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the Literature

2010 ◽  
Vol 13 (1) ◽  
pp. 35-37
Author(s):  
F Nasiri ◽  
F Mahjoubi ◽  
G Babamohammadi
Keyword(s):  
Case Report ◽  
Congenital Anomalies ◽  
Cytogenetic Analysis ◽  
De Novo ◽  
Chromosome 7 ◽  
Review Of The Literature ◽  
Multiple Congenital Anomalies ◽  
Upper Lip ◽  
Upper Eyelid ◽  
Partial Duplication

De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the LiteratureCytogenetic analysis of a 1-year-old boy with multiple congenital anomalies revealed partial duplication of the chromosome 7q21.2-q32 band region. His main features included: frontal bossing, small jaw, low-set ears, deep-set eyes, strabismus, drooping left upper eyelid, widely-spaced eyes, short nose, long philtrum, down-curved upper lip, camptodactyly and hypotonia.

scholarly journals P03.32: Prenatal ultrasound findings in trisomy 22: five case reports and a review of the literature

2005 ◽  
Vol 26 (4) ◽  
pp. 395-395
Author(s):  
R. Stressig ◽  
S. Körtge-Jung ◽  
G. Hickmann ◽  
P. Kozlowski
Keyword(s):  
Case Reports ◽  
Prenatal Ultrasound ◽  
Review Of The Literature ◽  
Ultrasound Findings

scholarly journals Ultrasound Markers for Complex Gastroschisis: A Systematic Review and Meta-Analysis

2021 ◽  
Vol 10 (22) ◽  
pp. 5215
Author(s):  
Rui Gilberto Ferreira ◽  
Carolina Rodrigues Mendonça ◽  
Carolina Leão de Moraes ◽  
Fernanda Sardinha de Abreu Tacon ◽  
Lelia Luanne Gonçalves Ramos ◽  
...  
Keyword(s):  
Systematic Review ◽  
Confidence Intervals ◽  
Gestational Age ◽  
Meta Analysis ◽  
Prenatal Ultrasound ◽  
Prevalence Rates ◽  
Review Of The Literature ◽  
Estimate Prevalence ◽  
Risk Ratios ◽  
Bowel Dilatation

Although gastroschisis is often diagnosed by prenatal ultrasound, there is still a gap in the literature about which prenatal ultrasound markers can predict complex gastroschisis. This systematic review and meta-analysis aimed to investigate the ultrasound markers that characterize complex gastroschisis. A systematic review of the literature was conducted according to the guidelines of PRISMA. The protocol was registered (PROSPERO ID CRD42020211685). Meta-analysis was displayed graphically on Forest plots, which estimate prevalence rates and risk ratios, with 95% confidence intervals, using STATA version 15.0. The combined prevalence of intestinal complications in fetuses with complex gastroschisis was 27.0%, with a higher prevalence of atresia (about 48%), followed by necrosis (about 25%). The prevalence of deaths in newborns with complex gastroschisis was 15.0%. The predictive ultrasound markers for complex gastroschisis were intraabdominal bowel dilatation (IABD) (RR 3.01, 95% CI 2.22 to 4.07; I2 = 15.7%), extra-abdominal bowel dilatation (EABD) (RR 1.55, 95% CI 1.01 to 2.39; I2 = 77.1%), and polyhydramnios (RR 3.81, 95% CI 2.09 to 6.95; I2 = 0.0%). This review identified that IABD, EABD, and polyhydramnios were considered predictive ultrasound markers for complex gastroschisis. However, evidence regarding gestational age at the time of diagnosis is needed.

Prenatal ultrasound diagnosis of cloacal exstrophy associated with myelocystocele complex by the ‘elephant trunk-like’ image and review of the literature

2005 ◽  
Vol 25 (5) ◽  
pp. 394-397 ◽  
Author(s):  
Matteo Della Monica ◽  
Alfredo Nazzaro ◽  
Fortunato Lonardo ◽  
Gerardo Ferrara ◽  
Arturo Di Blasi ◽  
...  
Keyword(s):  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Review Of The Literature ◽  
Elephant Trunk ◽  
Cloacal Exstrophy
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