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 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 Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death

2021 ◽  
Vol 9 ◽  
Author(s):  
Georgia Sarquella-Brugada ◽  
Oscar García-Algar ◽  
María Dolores Zambrano ◽  
Anna Fernández-Falgueres ◽  
Sebastian Sailer ◽  
...  
Keyword(s):  
Sudden Death ◽  
Genetic Analysis ◽  
Long Qt Syndrome ◽  
Early Identification ◽  
Sudden Infant ◽  
Clinical Value ◽  
Long Qt ◽  
Invasive Approach ◽  
Qt Syndrome

Introduction: Long QT syndrome is the main arrhythmogenic disease responsible for sudden death in infants, especially in the first days of life. Performing an electrocardiogram in newborns could enable early diagnosis and adoption of therapeutic measures focused on preventing lethal arrhythmogenic events. However, the inclusion of an electrocardiogram in neonatal screening protocols still remains a matter of discussion. To comprehensively analyse the potential clinical value of performing an electrocardiogram and subsequent follow-up in a cohort of newborns.Methods: Electrocardiograms were performed in 685 neonates within the first week of life. One year follow-up was performed if QTc > 450 ms identified. Comprehensive genetic analysis using massive sequencing was performed in all cases with QTc > 470 ms.Results: We identified 54 neonates with QTc > 450 ms/ <470 ms; all normalized QTc values within 6 months. Eight cases had QTc > 480 ms at birth and, if persistent, pharmacological treatment was administrated during follow-up. A rare variant was identified as the potential cause of long QT syndrome in five cases. Three cases showed a family history of sudden arrhythmogenic death.Conclusions: Our prospective study identifies 0.14% of cases with a definite long QT, supporting implementation of electrocardiograms in routine pediatric protocols. It is an effective, simple and non-invasive approach that can help prevent sudden death in neonates and their relatives. Genetic analyses help to unravel the cause of arrhythmogenic disease in diagnosing neonates. Further, clinical assessment and genetic analysis of relatives allowed early identification of family members at risk of arrhythmias helping to adopt preventive personalized measures.

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.

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