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Prenatal molecular diagnosis in RASA1 ‐related disease
Abstract RASA1‐related disease is a rare autosomal dominant disease characterized by capillary malformations, arteriovenous malformations (AVMs) and/or arteriovenous fistulas (AFVs). Penetrance is nearly complete and vascular malformations may cause serious complications such as organ injury due to oxygenation disorder, brain abscess, hemorrhage and stroke. Early diagnosis is useful in order to discuss optimal management, including AVMs/AVFs embolization or surgical procedures, and try to prevent some of the complications. In this context, molecular testing of RASA1 gene mutation in relatives may help to better manage th...
Source: Prenatal Diagnosis - September 1, 2017 Category: Perinatology & Neonatology Authors: Aur élien Palmyre, Mélanie Eyries, Marie‐Victoire Senat, Augustin Ozanne, Stéphanie Staraci, Philippe Dufour, Thierry Chinet, Pascal Lacombe, Florent Soubrier, Philippe Charron Tags: RESEARCH LETTER Source Type: research

Aortic isthmus shunt dynamics in normal and complicated monochorionic pregnancies
ConclusionIn MC gestations, AoI shunting is predominantly determined by placental flow resistance, while cerebral impedance and volume status have no impact. In MC twins, the relationship between AoI flow and outcome deserves further study in the setting of sIUGR.
Source: Prenatal Diagnosis - July 1, 2017 Category: Perinatology & Neonatology Authors: Viola Seravalli, Dana Block ‐Abraham, Cyrethia McShane, Sarah Millard, Ahmet Baschat, Jena Miller Tags: Original Article Source Type: research

Undiagnosed Heterotopic Pregnancy, Maternal Hemorrhagic Shock, and Ischemic Stroke in the Intrauterine Fetus
Abstract Heterotopic pregnancy occurs rarely following natural conception; however, intrauterine embryo transfer following IVF is a known risk factor for its occurrence. A 29‐year‐old woman presented with acute abdomen at 14w5d gestation following IVF‐ET treatment. A ruptured heterotopic gestation in the left fallopian tube was identified at laparoscopy and treated by salpingectomy. Subsequently, at 21‐week gestation, routine sonogram demonstrated bilateral ventriculomegaly in the intrauterine fetus. Fetal MRI was highly suggestive of ischemic brain injury, most likely attributable to the maternal hypovolemic shock...
Source: Prenatal Diagnosis - June 1, 2015 Category: Perinatology & Neonatology Authors: Mohammad Ezzati, Alireza A. Shamshirsaz, Sina Haeri Tags: Research Letter Source Type: research