[Antenatal care : anticipating for future mother and child].

Prenatal care allows early detection of risks and complications in the pregnant women in an attempt to minimize problems at birth and delivery. In Geneva, prenatal care is organized as a collaboration between private and liberal in-hospital network with a ranking in the pregnancy risk levels to adapt follow-up. The perinatal care structure should be built in a way to identify risks prompting professionals to adapt from the normal physiological care to a therapeutic escalation one appropriated to the detected risk level.

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.

Neuronal ceroid lipofuscinoses represent a heterogeneous group of early onset neurodegenerative disorders that are characterized by progressive cognitive and motor function decline, visual loss, and epilepsy. The age of onset has been historically used for the phenotypic classification of this group of disorders, but their molecular genetic delineation has now enabled a better characterization, demonstrating significant genetic heterogeneity even among individuals with a similar phenotype. The rare Congenital Neuronal Ceroid Lipofuscinosis (CLN10) caused by mutations in the gene encoding for cathepsin D is associated with a dramatic presentation with onset before or around birth.

OS014. Which first-line drug to control severe hypertension in pregnancy? A pilot study.

Introduction: Severe hypertension is a common complication in pregnancy-associated hypertensive disorders and there is no clear consensus on which first-line antihypertensive drug to use in this setting.

Objectives: To determine the efficacy and safety of four antihypertensive drugs (two intravenous and two oral) in pregnant women with severe hypertension.

Methods: Pilot prospective randomised study.

Myeloid proliferation without GATA1 mutations in a fetus with Down syndrome presenting in utero as a pericardial effusion.

An isolated pericardial effusion was observed during a routine prenatal ultrasound in a fetus of 30 and 3/7 weeks gestation. Amniocentesis was performed and revealed a trisomy 21. After prenatal counseling, the parents opted for termination of the pregnancy at 32 weeks.

[Antenatal screening for Down syndrome: a smattering of epidemiology].

Maternal age per se is not an indication for chorionic villous sampling or amniocentesis anymore. Although the risk for fetal Down syndrome increases with maternal age, it must be adjusted after other screening tests are performed. Current recommendations include ultrasound measurement of the fetal nuchal transluciency, and of maternal PAPP-A and free-b-hCG in addition to maternal age.