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RESEARCH: “Advances in fetal therapy in complicated monochorionic pregnancies and in severe congenital diaphragmatic hernia: five years experience”

Minimally invasive fetal therapeutic procedures reduce the morbidity and mortality in monochorionic (MC) twins  and in fetuses with congenital diaphragmatic hernia (CDH). MC pregnancies share their blood systems due to communicating vessels over their single placenta and may develop specific complications: Twin-to-Twin transfusion syndrome (TTTS), Selective intrauterine growth restriction (sIUGR), Twin Anemia-Polycythemia Sequence (TAPS), Twin …

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RESEARCH: “Retinoic acid and tracheal occlusion for diaphragmatic hernia treatment in rabbit fetuses.”

Lung hypoplasia and pulmonary arterial hypertension (PAH) in congenital diaphragmatic hernia (DH) lead to a high  perinatal mortality. Although sustained fetoscopic tracheal occlusion (TO) improves lung development, a major side effect is abnormal pneumocyte differentiation. This study evaluated the potential ability of intra-tracheal retinoic acid (RA) administration to reduce adverse effects of sustained TO in …

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RESEARCH: “Associated congenital anomalies in newborns diagnosed with congenital diaphragmatic hernia”

Congenital diaphragmatic hernia is an anomaly that  appears as a result of abnormal embryological development of the diaphragmatic muscle. It shows up early and has an incidence of 1 in every 2000-3000 live births. It is frequently associated with other congenital anomalies. The mortality is high reaching 40-62% because of respiratory failure secondary to pulmonary …

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Research: “Follow-up of fetuses with congenital diaphragmatic hernia: the Quantitative Lung Index”

Objective To assess the longitudinal behavior of Quantitative Lung Index (QLI) for the follow-up of fetuses with congenital diaphragmatic hernia. Study design Retrospective study of fetuses with isolated left congenital diaphragmatic hernia. The fetuses were assessed by ultrasound at different gestational ages and QLI was retrospectively calculated by means of previous lung-to-head ratio measurements. We used a random effects …

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Virtual Ribbons in Honor or Memory of Your Cherub

In honor of CDH Awareness Month, we are honoring all of our CDH babies (survivors and non-survivors) with virtual ribbons to represent the strength and importance of each child born with Congenital Diaphragmatic Hernia. These ribbons will remain posted on our homepage for the month of April. You may add additional ribbons here by making a tax-deductible donation in honor of …

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Research: “The Role of FREM2 and FRAS1 in the Development of Congenital Diaphragmatic Hernia”

Congenital diaphragmatic hernia (CDH) has been reported twice in individuals with a clinical diagnosis of Fraser syndrome, a genetic disorder that can be caused by recessive mutations affecting FREM2 and FRAS1. In the extracellular matrix, FREM2 and FRAS1 form a self-stabilizing complex with FREM1, a protein whose deficiency causes sac CDH in humans and mice. By sequencing FREM2 and FRAS1 in a CDH …

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