Hopital Necker Enfant Malades

Paris, France

Hopital Necker Enfant Malades

Paris, France

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Alby C.,Hopital Necker Enfant Malades | Bessieres B.,Hopital Necker Enfant Malades | Bieth E.,Service de Genetique | Attie-Bitach T.,Hopital Necker Enfant Malades | And 13 more authors.
American Journal of Medical Genetics, Part A | Year: 2013

We report on a combination of congenital malformations in a mother and her fetus harboring a heterozygous deletion encompassing the TBX5 and TBX3 genes, which are disease-causing in Holt-Oram and ulnar-mammary syndromes, respectively. This contiguous gene syndrome is reminiscent of Okihiro syndrome and emphasizes the importance of array-CGH as a diagnostic tool in atypical syndromic presentations with intrafamilial variability. © 2013 Wiley Periodicals, Inc.


Quibel T.,CHI Poissy Saint Germain | Quibel T.,French Institute of Health and Medical Research | Quibel T.,University of Paris Descartes | Deloison B.,French Institute of Health and Medical Research | And 11 more authors.
Prenatal Diagnosis | Year: 2015

Objective: To compare placental elasticity in normal versus intrauterine growth restriction (IUGR) murine pregnancies using shear wave elastography (SWE). Methods: Intrauterine growth restriction was created by ligation of the left uterine artery of Sprague-Dawley rats on E17. Ultrasonography (US) and elastography were performed 2days later on exteriorized horns after laparotomy. Biparietal diameter (BPD) and abdominal diameter (AD) were measured and compared in each horn. Placental elasticity of each placenta was compared in the right and left horns, respectively, using the Young's modulus, which increases with increasing stiffness of the tissue. Results: Two hundred seventeen feto-placental units from 18 rats were included. Fetuses in the left ligated horn had smaller biometric measurements than those in the right horn (6.7 vs 7.2mm, p<0.001, and 9.2 vs 11.2mm, p<0.001 for BPD and AD, respectively). Mean fetal weight was lower in the pups from the left than the right horn (1.65 vs 2.11g; p<0.001). Mean (SD) Young's modulus was higher for placentas from the left than the right horn (11.7±1.5kPa vs 8.01±3.8kPa, respectively; p<0.001), indicating increased stiffness in placentas from the left than the right horn. There was an inverse relationship between fetal weight and placental elasticity (r=0.42; p<0.001). Conclusion: Shear wave elastography may be used to provide quantitative elasticity measurements of the placenta. In our model, placentas from IUGR fetuses demonstrated greater stiffness, which correlated with the degree of fetal growth restriction. © 2015 John Wiley & Sons, Ltd.

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