Effect of changes to cost and availability of emergency contraception on users' profiles in an emergency department in Catalunya.

OBJECTIVE: Emergency contraception (EC) accessibility has evolved differently in Catalunya as compared with other autonomous communities in Spain. Free-of-charge access within the Public Health System was authorised in 2004, and over-the-counter (OTC) access was implemented in 2009. The aim of the study is to assess the impact of these measures on demand and users' profiles at our institution. METHODS: A retrospective study, in our Emergency Department, was conducted to evaluate EC requests in relationship to accessibility modifications. The age of women and which days of the week they attended were analysed. RESULTS: The number of EC requests, the distribution by age and the demand over the week remained stable after access to EC became free of charge. However, requests sharply decreased following OTC access implementation. Distribution by age also changed, with a significant increase in requests from women under 25 years (72% vs 56%, p < 0.001). Demand was greatest on Sunday and Monday, and this distribution persisted over the study period. CONCLUSION: EC requests remained unchanged following free-of-charge access to EC, but decreased after OTC implementation. Women currently seeking EC at no cost at our institution are more likely to be younger and to request it on a Monday.

Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number.

OBJECTIVE: To study fetal nuchal translucency (NT) thickness as a possible early marker in fetuses at risk for severe spinal muscular atrophy (SMA). To investigate the significance of the survival motor neuron (SMN) 2 gene copy number in affected fetuses. METHODS: We performed 2D-ultrasound in 98 pregnancies at risk for SMA, all of which underwent prenatal molecular testing of the SMN1 gene. Crown-rump length (CRL) and NT measurements were obtained in all cases before chorionic villus sampling. Fetuses were diagnosed as healthy, carriers or affected according to the SMN1 molecular testing results. SMN2 copies were also tested in all affected fetuses. RESULTS: Nineteen fetuses were predicted to be affected due to the absence of the SMN1 gene, 18 of which had two SMN2 copies. Mean CRL and NT values did not differ between healthy, carrier and affected fetuses. In the remaining affected case who had only one SMN2 copy, the ultrasound examination showed a NT value of 4.98 mm and findings compatible with hypoplastic left heart. CONCLUSIONS: Most affected SMA fetuses have normal NT values. Our findings support the idea that SMN2 copy number in SMA fetuses is relevant for the development of congenital heart defects and increased NT values.

Enfermedad de Ebstein y gestación: ¿morbilidad imprevisible? / Ebstein's anomaly and pregnancy: uncertain complications?

La enfermedad cardiaca durante el embarazo continúa siendo una de las causas principales de muerte indirecta materna. Concretamente, la enfermedad de Ebstein es una anormalidad cardiaca congénita de la válvula tricúspide que puede asociarse a cianosis y arritmias. Para aquellas pacientes con esta anomalía que sobreviven a la etapa adulta, hay poca información disponible sobre el embarazo, las complicaciones maternas y el pronóstico fetal. Exponemos un caso clínico de una paciente embarazada afectada de esta enfermedad con el objetivo de abordar esta cuestión, de manera que estas pacientes puedan recibir el asesoramiento apropiado y obtener éxito en el manejo de la gestación de riesgo(AU)

Cardiac disease in pregnancy remains a major cause of indirect maternal death. Specifically, Ebstein's anomaly is an uncommon congenital cardiac abnormality of the tricuspid valve that may be associated with cyanosis and arrhythmias. For female patients with this anomaly who survive to adult life, there is little information on pregnancy, maternal complications and fetal outcomes.We discuss the case of a pregnant woman with this anomaly to address this issue so that these patients can receive appropriate advice and the risks of pregnancy can be successfully managed(AU)

Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy.

We studied spinal muscular atrophy (SMA) during human development to identify possible delays or alterations in fetal movements detectable by ultrasound. We evaluated 29 pregnancies at risk for severe SMA performing 2D-ultrasound around 11-14 weeks, prior to prenatal molecular testing of the SMN1 gene. We charted the occurrence of generalized body movements, isolated movements of arms and legs, head movements, startle and hiccup. Fetuses were diagnosed as healthy (n=12), carriers (n=10) or affected (n=7) according to the SMN1 molecular testing results obtained. SMN2 copies were also tested in the seven affected fetuses, six of whom showed two SMN2 copies and one a unique SMN2 copy. The movements under study were observed in all recordings, regardless of group and the SMN2 copies. At the gestational age examined, we did not observe a qualitative early limitation of movements in fetuses with SMA, even in cases predicted to develop a severe neonatal form.