Diagnóstico prenatal de malformaciones congénitas y alteraciones cromosómicas: resultado de la experiencia CIMAF - Hospital Dr. Sótero Del Río / Prenatal Diagnosis of Congenital Malformations and Chromosomal Abnormalities: Single Center Experience - Hospital Dr. Sótero Del Río, Chile

INTRODUCCIÓN: El diagnóstico prenatal de anomalías congénitas tiene como objetivo ofrecer consejería apropiada, identificar aquellas patologías que se benefician de terapia fetal y coordinar la derivación de estas pacientes a centros terciarios para un óptimo manejo perinatal. Para el diagnóstico y manejo de las anomalías congénitas en el Hospital Dr. Sótero Del Río contamos con un equipo multidisciplinario. El objetivo de este estudio es describir nuestra experiencia como centro de referencia en Santiago de Chile en relación al diagnostico prenatal de malformaciones congénitas, estudio genético prenatal y resultados perinatales. MÉTODOS: Estudio retrospectivo y descriptivo. Se incluyó a las pacientes registradas en las bases de datos ecográficas entre 2010 y 2019 del Hospital Dr. Sotero del Rio. Se revisaron fichas clínicas para evaluación y seguimiento postnatal. RESULTADOS: Se evaluaron 404 pacientes con sospecha de malformaciones congénitas o marcadores de aneuploidías. La edad gestacional media de la evaluación fue 29 semanas (14-38 semanas). La mediana de la edad gestacional al parto fue 37.6 semanas (20-41 semanas). Se obtuvo un 78% de recién nacidos vivos, 12% óbitos fetales y 10% mortineonatos. Las malformaciones más frecuentes fueron cardiovasculares, sistema nervioso central, hidrops, extremidades, abdomen y genitourinario. Se realizo el estudio genético en 232 pacientes; 61% resultado normal, 12.5% trisomía 21, 8% trisomía 18, 4% trisomía 13, 4% XO, 4% otras. Se analizaron las pacientes que se acogieron a la ley de interrupción voluntaria del embarazo. CONCLUSIÓN: Destacamos la importancia de derivación a centros de referencia de pacientes con sospecha de malformaciones congénitas para un adecuado diagnostico prenatal, ofrecer un manejo con equipo multidisciplinario y así mejorar los resultados neonatales.

INTRODUCTION: The objectives of prenatal diagnosis of fetal malformations are to offer the patient and her family the proper counseling, identify those conditions that benefits of prenatal therapy and to coordinate the referral to tertiary centers to improve neonatal survival. Our hospital counts with a multidisciplinary team who evaluate the patients together. The objective of this study is to describe our experience as a referral center in prenatal diagnosis, management and neonatal outcomes in Santiago de Chile. METHODS: Retrospective and descriptive study. Patients registered in our prenatal diagnosis database between September 2010 and July 2019 were included. Clinical files were reviewed for neonatal outcomes. OUTCOMES: 404 patients with congenital malformations or aneuploidy markers were evaluated. The average gestational age of the evaluation was 29 weeks. Median gestational age to delivery was 37 weeks plus 6 days. 78% of livebirth, 12% fetal demise and 10% of neonatal death were obtained. The most frequent fetal malformations were cardiovascular, central nervous system, fetal hydrops, extremities, abdominal wall defects and urinary system. Fetal karyotype was performed in 232 patients; 61% normal karyotype, 12.5% trisomy 21, 8% trisomy 18, 4% trisomy 13, 4% monosomy X, 4% others. We also analyze the patients who agreed to termination of pregnancy according to Chilean legislation. CONCLUSION: We highlight the importance of referral of patients with suspected fetal malformations to tertiary centers for an adequate evaluation by a multidisciplinary team of specialists, to improve the survival and neonatal outcome.

Preferences of Underserved Chilean Women on a Mobile Technology Intervention for Cervical Cancer Screening: Qualitative Study.

BACKGROUND: In Chile and Latin America, cervical cancer disproportionately affects women of low socioeconomic status. Mobile technology (mobile health, mHealth) may be able to address this disparity by targeting women in underserved populations. However, there is a lack of information regarding barriers to the implementation of mHealth interventions in underserved populations. OBJECTIVE: The objective of this study was to investigate the use of cell phones and text messaging (short message service, SMS) in Latina women from disadvantaged communities to design an mHealth intervention for improving cervical cancer screening rates. METHODS: We conducted 9 focus groups among women aged 25-64 years to better understand the implementation barriers and perceptions of a text message (SMS)-based intervention designed to improve cervical cancer screening rates. We used the PRECEDE-PROCEED model to categorize identified themes using template analysis. RESULTS: Focus group results indicated that older women use mobile phones to receive calls from family and friends but seldom send text messages. Furthermore, they prefer personal contact with their health care providers regarding Papanicolaou (Pap) testing. Younger women, on the other hand, find text messaging easy to use and frequently send texts to family and friends. Importantly, women of all ages mentioned they would like to receive text messages about Pap tests. Factors that facilitate the uptake of the intervention include ease of access to Pap testing, inclusion of family members, and reminder messaging. Potential barriers include cost and the impersonal nature of messaging. Health team members support an mHealth intervention even though they acknowledge the potential barriers to this strategy. Overall, these results support the implementation of an mHealth intervention to increase cervical cancer screening rates. CONCLUSIONS: This study describes the opinions of women nonadherent to Pap testing on the potential use of mobile technologies for cervical cancer screening. Although the overall acceptance was positive, older women prefer personal contact and phone calls over text messaging. Information surrounding these preferences will aid in the implementation of effective strategies to improve cancer screening in underserved populations.