scholarly journals VP22.04: Prenatal diagnosis, genetic analysis and prognosis of isolation of aortic brachiocephalic artery

2021 ◽  
Vol 58 (S1) ◽  
pp. 188-188
Author(s):  
X. Hao ◽  
Y. Zhang ◽  
J. Han ◽  
Y. He
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Analysis ◽  
Brachiocephalic Artery

scholarly journals Mosaic trisomy 17 at amniocentesis: Prenatal diagnosis, molecular genetic analysis, and literature review

2016 ◽  
Vol 55 (5) ◽  
pp. 712-717 ◽  
Author(s):  
Chih-Ping Chen ◽  
Liang-Kai Wang ◽  
Schu-Rern Chern ◽  
Yen-Ni Chen ◽  
Shin-Wen Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Literature Review ◽  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Mosaic Trisomy

scholarly journals Prenatal Diagnosis and Genetic Analysis of a Fetus with 47,XX, +21/46,XX Mosaicism and XX/XY Chimerism

2006 ◽  
Vol 105 (8) ◽  
pp. 659-663 ◽  
Author(s):  
Hsiao-Lin Hwa ◽  
Tsang-Ming Ko ◽  
Chien-Hao Huang ◽  
Li-Shu Chang
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Analysis

Prenatal diagnosis and genetic analysis of X chromosome polysomy 49,XXXXY

2000 ◽  
Vol 20 (9) ◽  
pp. 754-757 ◽  
Author(s):  
Chih-Ping Chen ◽  
Schu-Rern Chern ◽  
Chih-Long Chang ◽  
Chen-Chi Lee ◽  
Wen-Lin Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Analysis ◽  
X Chromosome

scholarly journals Clinical value of genetic analysis in prenatal diagnosis of short femur

2019 ◽  
Vol 7 (11) ◽  
Author(s):  
Jialiu Liu ◽  
Linhuan Huang ◽  
Zhiming He ◽  
Shaobin Lin ◽  
Ye Wang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Analysis ◽  
Clinical Value

scholarly journals Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Shoko Ikeda ◽  
Chika Akamatsu ◽  
Akifumi Ijuin ◽  
Ami Nagashima ◽  
Megumi Sasaki ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Analysis ◽  
Airway Obstruction ◽  
Renal Agenesis ◽  
Recurrence Risk ◽  
Compound Heterozygous ◽  
Fraser Syndrome ◽  
Novel Variants ◽  
Compound Heterozygous Variants

AbstractFraser syndrome (FS) involves multiple malformations and has a 25% recurrence risk among siblings. However, these malformations are difficult to detect prenatally, hampering prenatal diagnosis. Here, we describe a fetus with FS diagnosed using ultrasonography. Ultrasonography revealed congenital high airway obstruction syndrome and renal agenesis. Syndactyly of both hands and cryptophthalmos were noted postnatally, and the diagnosis was confirmed by genetic analysis, which showed novel compound heterozygous variants of FREM2.

Prenatal diagnosis of isolation of aortic brachiocephalic artery

2021 ◽  
pp. 028418512110582
Author(s):  
Xiao-yan Hao ◽  
Ye Zhang ◽  
Ying Zhao ◽  
Xiaowei Liu ◽  
Xiaoyan Gu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Aortic Arch ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Cardiac Anomaly ◽  
Brachiocephalic Artery ◽  
Aortic Arch Anomaly ◽  
Number Variation ◽  
Coronal Section ◽  
The Right

Background Isolated aortic brachiocephalic artery (IABA) is a rare congenital aortic arch anomaly. It is difficult to diagnose IABA prenatally and the prevalence in the prenatal population is unknown. Purpose To evaluate the echocardiographic characteristics and associations in fetuses with IABA. Material and Methods We retrospectively analyzed all cases of prenatal diagnosis of IABA from January 2012 to November 2020 and reviewed the follow-up results. Copy Number Variation Sequencing (CNV-Seq) was performed using the biological specimens of the of the fetuses and family members. Results Ten cases (10/45652, 0.022%) of IABA were identified in our center. The prevalence of the cases with isolated left subclavian artery (ILSCA) in the right aortic arch (RAA) population was 0.98% (6/613). The ILSCA was the most common isolated arch branch. All the isolated branches were on the opposite side of aortic arch in all the cases. The “ice stick” sign in the coronal section could be seen in most cases of IABA. Of the 10 cases, 8 (8/10, 80%) were associated with tetralogy of Fallot (TOF). Two cases of IABA were combined with 22q11.2 deletion syndrome. Conclusion IABA is a rare aortic anomaly. ILSCA was the most common isolated arch branch and TOF was the most common associated intra-cardiac anomaly. The “ice stick” sign in the coronal section could indicate a diagnosis of the IABA.

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