Prenatal detection of subtelomeric rearrangements by multi-subtelomere FISH in a cohort of fetuses with major malformations

2006 ◽  
Vol 140A (24) ◽  
pp. 2768-2775 ◽  
Author(s):  
Jennifer Gignac ◽  
Karine Danis ◽  
Frédérique Tihy ◽  
Emmanuelle Lemyre
Keyword(s):  
Prenatal Detection ◽  
Subtelomeric Rearrangements

Detection of spina bifida in the first trimester of gestation in association with triploidy

2017 ◽  
Author(s):  
K.K. Otaryan , C.G. Gagaev
Keyword(s):  
Spina Bifida ◽  
Early Detection ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
First Trimester ◽  
Termination Of Pregnancy ◽  
Diagnostic Tools ◽  
Prenatal Detection ◽  
Post Abortion

The case of prenatal detection of spina bifida at 12+3 weeks of gestation is described. Termination of pregnancy was performed at 13+3 weeks. Post-abortion karyotyping revealed triploidy (69XXX). Diagnostic tools for early detection of neural tube defects in the 1st trimester of gestation and subsequent appropriate management of pregnancy are discussed.

PRENATAL DETECTION OF CONGENITAL RENAL DISEASE

1995 ◽  
Vol 22 (1) ◽  
pp. 21-30
Author(s):  
Vivian M. Reznik ◽  
Nancy E. Budorick
Keyword(s):  
Renal Disease ◽  
Prenatal Detection

scholarly journals Special statement: Proposed quality metrics to assess accuracy of prenatal detection of congenital heart defects

2020 ◽  
Vol 222 (6) ◽  
pp. B2-B9
Author(s):  
C. Andrew Combs ◽  
Afshan B. Hameed ◽  
Alexander M. Friedman ◽  
Iffath Abbasi Hoskins
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Quality Metrics ◽  
Prenatal Detection

An intrathoracic arteriovenous malformation discovered as an extremely uncommon reason of neonatal congestive cardiac failure

2009 ◽  
Vol 19 (5) ◽  
pp. 530-533 ◽  
Author(s):  
Sigrun R. Hofmann ◽  
Matthias Weise ◽  
Katharina I. Nitzsche
Keyword(s):  
Arteriovenous Malformation ◽  
Cardiac Failure ◽  
Arteriovenous Malformations ◽  
Neonatal Period ◽  
High Flow ◽  
Congestive Cardiac Failure ◽  
Vein Of Galen ◽  
Prenatal Detection ◽  
First Case

AbstractCongenital arteriovenous malformations are rare causes of congestive cardiac failure in neonates. The most common sites are in the head and liver, but other sites include the thorax, the abdomen and the limbs. The onset of failure is usually not in the immediate neonatal period, but later on in life, albeit that lesions such as the arteriovenous malformation of the vein of Galen, and other arteriovenous malformations in different locations which produce high flow can present early. We describe here the first case, to the best of our knowledge, of prenatal detection of an intrathoracic arteriovenous malformation producing neonatal cardiac failure, which was successfully treated by surgery postnatally.

Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism

2015 ◽  
Vol 15 (1) ◽  
pp. 123-126 ◽  
Author(s):  
Laura Gigante ◽  
Irene Paganini ◽  
Marina Frontali ◽  
Serena Ciabattoni ◽  
Federica Carla Sangiuolo ◽  
...  
Keyword(s):  
Rhabdoid Tumor ◽  
Gonadal Mosaicism ◽  
Prenatal Detection

Drs. Booth and Nadler's Reply

PEDIATRICS ◽  
1974 ◽  
Vol 54 (4) ◽  
pp. 523-523
Author(s):  
Carol W. Booth ◽  
Henry L. Nadler
Keyword(s):  
Genetic Counseling ◽  
Heterozygous State ◽  
Prenatal Detection ◽  
Hunter's Syndrome

We have read with interest the comments of Dr. Kelly regarding the theoretical usefulness of the techniques recently described for the demonstration of the heterozygous state in Hunter's syndrome. Dr. Kelly has suggested that this technique, which might permit certain females to be identified as carriers of Hunter's syndrome, would not significantly alter current genetic counseling concepts nor their application to amniocentesis for the prenatal detection of this disorder. Theoretical questions raised in his letten are certainly sound.

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