Our observation expands the spectrum of human GE anomalies, demonstrating that these may take place also without associated severe micro-lissencephalies.

Reference biometric centiles of the brain structures in fetuses between 20 and 24 weeks of gestational age may be a reliable tool in assessing fetal brain development.

<b><i>Objectives:</i></b> To evaluate incidence of cerebral injury and outcome in a large series of monochorionic (MC) twin survivors after spontaneous single fetal demise. <b><i>Methods:</i></b> Retrospective analysis of all MC pregnancies with single fetal demise diagnosed at, or referred to, the Fetal Therapy Unit “U. Nicolini,” V. Buzzi Children’s Hospital, Milan, Italy, from 2004 to 2015. Survivors evaluation protocol included detailed ultrasound (US) of intracranial anatomy, Doppler investigation of peak systolic velocity in the middle cerebral artery (MCA-PSV), and magnetic resonance (MR). Data were collected on pregnancy characteristics, postnatal brain scan, and MR and neurological follow-up. <b><i>Results:</i></b> Seventy-eight consecutive MC pregnancies were analyzed. Median gestational age (GA) at single fetal demise was 22 weeks (range 15–36); median interval between single demise and live birth was 105 days (range 1–175), with a median GA at birth of 36 weeks (range 23–41). Prenatal MR was performed in 57 of 78 cases (73%). Cerebral injury affected 14/78 (18%) co-twins, 2 of whom were born immediately after single demise, with postnatal diagnosis of cerebral injury; of the other 12 fetuses that were studied before birth, 10 had a prenatal diagnosis of lesion both with US and MR, one only with MR, and in one case, a grade III intraventricular hemorrhage was reported only after delivery, which occurred at 25 weeks, 5 weeks after the single demise. Signs of fetal anemia (MCA-PSV value above 1.55 MoM) were related to a higher risk of prenatal cerebral injury; cases with postnatal diagnosis of lesion were delivered at lower GA. <b><i>Conclusions:</i></b> Cerebral injury affects 18% of co-twin survivors after single fetal demise in MC twin pregnancies, and evaluation and follow-up of these cases can improve detection rate of such damage.

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Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed in 9 fetuses was characterized by callosal anomalies, diencephalosynapsis, and a distinct brainstem malformation with diencephalic–mesencephalic junction dysplasia and brainstem kinking. Cerebellar vermis hypoplasia, aqueductal stenosis, obstructive hydrocephalus, and pontine hypoplasia were variably associated. The second pattern observed in one fetus was characterized by callosal dysgenesis, reduced white matter, and pontine hypoplasia. The identification of these features should alert clinicians to offer a prenatal L1CAM testing.

Aicardi Goutières Syndrome (AGS) is a monogenic leukodystrophy with pediatric onset, clinically characterized by a variable degree of neurologic impairment. It belongs to a group of condition called type I interferonopathies that are characterized by abnormal overproduction of interferon alpha, an in ammatory cytokine which action is mediated by the activation of 2 of the four human Janus Kinases.Thanks to an ever-increasing knowledge of the molecular basis and pathogenetic mechanisms of the disease, Janus Kinase inhibitors (JAKIs) have been proposed as a treatment for interferonopathies. We described the 24 months follow-up of the fth AGS patient treated with ruxolitinib. Treatment was globally well tolerated; clinical and radiological picture demonstrated a progressively improving course. It is however to note that patients presenting mild and spontaneously improving picture have been reported.Large natural history studies on AGS spectrum are urgently needed in order to help the interpretation of the results of therapeutic trials.

BACKGROUND AND PURPOSE:In several countries, laws and regulations allow abortion for medical reasons within 24 -25 weeks of gestational age. We investigated the diagnostic value of prenatal MR imaging for brain malformations within 25 weeks of gestational age.

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