Vasa previa in singleton pregnancies: diagnosis and clinical management based on an international expert consensus.

BACKGROUND: There are limited data to guide the diagnosis and management of vasa previa. Currently, what is known is largely based on case reports or series and cohort studies. OBJECTIVE: This study aimed to systematically collect and classify expert opinions and achieve consensus on the diagnosis and clinical management of vasa previa using focus group discussions and a Delphi technique. STUDY DESIGN: A 4-round focus group discussion and a 3-round Delphi survey of an international panel of experts on vasa previa were conducted. Experts were selected on the basis of their publication record on vasa previa. First, we convened a focus group discussion panel of 20 experts and agreed on which issues were unresolved in the diagnosis and management of vasa previa. A 3-round anonymous electronic survey was then sent to the full expert panel. Survey questions were presented on the diagnosis and management of vasa previa, which the experts were asked to rate on a 5-point Likert scale (from "strongly disagree"=1 to "strongly agree"=5). Consensus was defined as a median score of 5. Following responses to each round, any statements that had median scores of ≤3 were deemed to have had no consensus and were excluded. Statements with a median score of 4 were revised and re-presented to the experts in the next round. Consensus and nonconsensus statements were then aggregated. RESULTS: A total of 68 international experts were invited to participate in the study, of which 57 participated. Experts were from 13 countries on 5 continents and have contributed to >80% of published cohort studies on vasa previa, as well as national and international society guidelines. Completion rates were 84%, 93%, and 91% for the first, second, and third rounds, respectively, and 71% completed all 3 rounds. The panel reached a consensus on 26 statements regarding the diagnosis and key points of management of vasa previa, including the following: (1) although there is no agreement on the distance between the fetal vessels and the cervical internal os to define vasa previa, the definition should not be limited to a 2-cm distance; (2) all pregnancies should be screened for vasa previa with routine examination for placental cord insertion and a color Doppler sweep of the region over the cervix at the second-trimester anatomy scan; (3) when a low-lying placenta or placenta previa is found in the second trimester, a transvaginal ultrasound with Doppler should be performed at approximately 32 weeks to rule out vasa previa; (4) outpatient management of asymptomatic patients without risk factors for preterm birth is reasonable; (5) asymptomatic patients with vasa previa should be delivered by scheduled cesarean delivery between 35 and 37 weeks of gestation; and (6) there was no agreement on routine hospitalization, avoidance of intercourse, or use of 3-dimensional ultrasound for diagnosis of vasa previa. CONCLUSION: Through focus group discussion and a Delphi process, an international expert panel reached consensus on the definition, screening, clinical management, and timing of delivery in vasa previa, which could inform the development of new clinical guidelines.

Toma de decisión compartida en la asesoría preprueba de la ecografía de las 11 a las 13 semanas de gestación: revisión bibliográfica / Shared decision making in pretest counseling at the 11 to 13 weeks ultrasound scan: bibliographic review

Resumen ANTECEDENTES: En el diagnóstico prenatal confluye un grupo de tecnologías enfocadas a la detección de defectos o anomalías congénitas de origen genético y multifactorial. Con independencia del tipo de prueba de que se trate, cualquier tecnología de diagnóstico prenatal debe ir acompañada de asesorías pre y posprueba. La sustentación ética de estas asesorías es de primordial interés para la Medicina prenatal y ha sido tarea de diversas organizaciones. METODOLOGÍA: Estudio retrospectivo, de búsqueda en las bases de datos PubMed, Web of Science y Google Scholar, con los términos MeSH: "Pregnancy", "Prenatal Diagnosis", "Genetic Conuseling", "Relational Autonomy" y "Decision Making". RESULTADOS: Se encontraron 909 referencias de las que se eliminaron las de más de 20 años de publicación, las que no contaban con textos completos y las duplicadas por la búsqueda en distintas bases de datos. Al final se analizaron 25 artículos en texto completo que sirvieron de base para la revisión bibliográfica. CONCLUSIONES: En la actualidad, el ultrasonido es la principal puerta de entrada al mundo del diagnóstico prenatal. Aludir a la indicación y uso éticos de cualquier tecnología de diagnóstico prenatal previene daño al embarazo en su conjunto y desincentiva la necesidad de una normatividad jurídica detallada que, por el momento, no existe en muchos países, incluido el nuestro. Hoy en día se dispone de lineamientos éticos claros para la asesoría de la ecografía como técnica de diagnóstico prenatal.

Abstract BACKGROUND: Prenatal diagnosis brings together a group of technologies that focus on the detection of congenital defects or anomalies of genetic and multifactorial origin. Irrespective of the type of test, any prenatal diagnostic technology must be accompanied by pre- and post-test counselling. The ethical underpinning of such counselling is of paramount interest to prenatal medicine and has been the task of several organisations. METHODOLOGY: Retrospective study, searching PubMed, Web of Science and Google Scholar databases using the MeSH terms: "pregnancy", "prenatal diagnosis", "genetic counselling", "relational autonomy" and "decision making". RESULTS: We found 909 references from which we eliminated those older than 20 years of publication, those without full text and those duplicated by searching in different databases. In the end, 25 full-text articles were analysed and served as the basis for the literature review. CONCLUSIONS: Ultrasound is currently the main gateway to the world of prenatal diagnosis. The ethical indication and use of any prenatal diagnostic technology prevents harm to the pregnancy as a whole and avoids the need for detailed legal regulation, which currently does not exist in many countries, including our own. Clear ethical guidelines are now available for advice on ultrasound as a prenatal diagnostic technique.

Utilidad de los marcadores ultrasonográficos de cromosomopatía / Usefulness of ultrasonographic markers of chromosomopathy

Durante un periodo de tres años y medio, en 132 mujeres embarazadas se diagnosticó la presencia de una amplia variedad de anomalías morfológicas fetales, sugestivas de cromosomopatía, utilizando un equipo de ultrasonido de alta definición y la participación multidisciplinaria. En 95 casos se realizó amniocentesis para estudio del cariotipo fetal. En esta población se determinó la incidencia de cromosomopatía, su contribución al total de las alteraciones cromosómicas diagnosticadas en el periodo de estudio y la expresión fenotípica de las diferentes aneuploidías. Se encontraron 29 cariotipos fetales anormales; 11 con tisomía 18, siete con monosomía del X, cuatro trisomía 21, tres con trisomía 13, uno tetraploidía (29xxyy), uno con mosaico para Turner (45XO 68 por ciento, 46XY 32 por ciento) y dos con inversión en el cromosoma nueve. Del total de las cromosomopatías diagnosticadas en el mismo periodo (N=50), el grupo con anomalías morfológicas representó 49.2 por ciento, mientras que las otras poblaciones de riesgo, de cinco a 15 por ciento. Se diagnosticaron 224 anormalías morfológicas, 43 (19 por ciento) aisladas y 181 (81 por ciento) asociadas. Un número de 80 (36 por ciento) se presentaron en las cromosomopatías. Los marcadores que tuvieron mayor asociación fueron la atresia duodenal, la cardiopatía, la microcefalia, la fosa posterior amplia y el higroma quístico. Se encontró un patrón de marcadores específicos para cada alteración cromosómica. Se concluyó que el ultrasonido puede ser el método más útil para seleccionar el grupo de embarazadas con mayor riesgo de cariotipo anormal