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The implementation of a lowcost simulation model and cumulative sum analysis enables training and monitoring of individual learning curves for transcervical chorionic villus sampling.
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Muestra de la Vellosidad Coriónica/métodos , Obstetricia/educación , Animales , Femenino , Humanos , México , Embarazo , Desarrollo de Programa , Entrenamiento Simulado/métodos , PorcinosRESUMEN
Background: Nuchal cystic hygroma is the most frequently identified marker of chromosomal anomalies during first trimester screening. Objective: To determine the association of the nuchal cystic hygroma with chromosomal anomalies diagnosed with karyotyping done between the first and second trimesters of pregnancy. Design: Retrospective study. Setting: Instituto Latinoamericano de Salud Reproductiva (ILSAR), Lima, Peru. Patients. Fetuses with nuchal cystic hygroma. Methods: The data were obtained from the ILSAR database between August 2007 and May 2018, the cases diagnosed by ultrasound from week 11 to 13.6. Nuchal cystic hygroma was defined as the presence of septated liquid content in the nuchal axial section with a thickness above the 95th percentile value for increased nuchal translucency value for the crown-rump length. The karyotype was obtained between the first and second trimesters from material collected by chorionic villus sampling (BVS) or amniocentesis (AMC). Main outcome measures: Karyotyping results were compared between cases with cystic hygroma alone and cases with cystic hygroma in addition to another marker. Results: Out of 459 invasive procedures performed in fetuses with high risk for chromosomal anomalies based on the Fetal test database of Spain, there were 162 cases of chromosomal anomalies (35.3%), and 104 cases of nuchal cystic hygroma (22.7%). Nuchal cystic hygroma was associated with a higher frequency of chromosomal abnormalities, compared to fetuses without cystic hygroma (52.9% vs. 30.1%; p<0.001). Out of 61 cases of hygroma alone, 42.3% had chromosomal anomalies, and when the hygroma was associated with other markers (fetal hydrops, abnormal ductus venosus, heart disease), 65.1% had chromosomal abnormalities. There was a statistically significant difference (p=0.003) for the presence of monosomy X between the group with cystic hygroma alone and the group with hygroma and fetal hydrops. There was no difference in hygroma thickness between the groups with and without chromosomal abnormalities. Conclusions: Nuchal cystic hygroma is a risk marker with high predictive value for chromosomal abnormalities, and its identification during prenatal screening may be considered an indication to a diagnostic test. When cystic hygroma is associated to flow abnormalities of the ductus venosus or fetal hydrops, chromosomal abnormalities significantly increase. The hygroma associated with hydrops was primarily linked to monosomy X, while the hygroma associated with abnormal flow velocity waveforms of the ductus venosus was linked to trisomy 21.
Antecedentes. El higroma quístico retronucal es el marcador de anomalías cromosómicas identificado con mayor frecuencia en el tamizaje del primer trimestre. Objetivo. Evaluar la asociación del higroma quístico retronucal y anomalías cromosómicas diagnosticadas con el cariotipo, entre el primer y segundo trimestre del embarazo. Diseño. Estudio retrospectivo. Institución. Instituto Latinoamericano de Salud Reproductiva (ILSAR), Lima, Perú. Pacientes. Fetos con higroma quístico retronucal. Método. Estudio de fetos con higroma quístico retronucal, obtenidos de la base de datos de ILSAR, entre agosto del 2007 y mayo del 2018, diagnosticados por ecografía entre las 11 y 13,6 semanas. El higroma quístico retronucal se definió como la presencia de contenido líquido tabicado en el corte axial retronucal con un grosor mayor al percentil 95 del valor de translucencia nucal aumentada para la longitud corona-nalga. Se obtuvo el cariotipo entre el primer y segundo trimestre en material obtenido por biopsia de vellosidades coriales (BVC) o amniocentesis (AMC). Principales medidas de resultados. Los resultados del cariotipo fueron comparados entre los casos de higroma quístico solo y los casos que tuvieron higroma y adicionalmente otro marcador. Resultados. De un total de 459 procedimientos invasivos realizados en fetos con alto riesgo para anomalías cromosómicas en base al Fetal test de España, hubieron 162 casos de anomalías cromosómicas (35,3%) y se identificó 104 casos de higroma quístico retronucal (22s7%). El hallazgo de higroma quístico retronucal se asoció con mayor presencia de anomalías cromosómicas, comparado con los fetos sin higroma quístico (52,9% vs. 30,1%; p<0,001). De 61 casos de higroma solo, 42,3% tenían anomalía cromosómica, y cuando el higroma estaba asociado a otros marcadores (hidrops fetal, ductus venoso anormal, cardiopatía, ausencia de hueso nasal), hubo 65,1% de anomalías cromosómicas. Hubo diferencia estadística significativa (p=0,003) para la presencia de monosomía X, entre el grupo con higroma solo y el de higroma + hidrops fetal. No hubo diferencia en el grosor del higroma entre el grupo con y sin anomalía cromosómica. Conclusiones. El higroma quístico retronucal es un marcador de riesgo con alto valor predictivo para anomalías cromosómicas. Su identificación en el tamizaje prenatal podría ser indicación para recomendar una prueba diagnóstica. Cuando se asocia a anormalidad del flujo del ductus venoso o hidrops fetal, aumentan significativamente las anomalías cromosómicas. El higroma asociado con hidrops se vinculó mayoritariamente a la monosomía X, mientras que el higroma asociado con onda de velocidad de flujo-OVF de ductus venoso anormal a la trisomía 21.
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OBJETIVO: Caracterizar as indicações das gestantes que procuraram o serviço de Medicina Fetal do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo para realização de procedimentos invasivos diagnósticos e avaliar os resultados dos cariótipos fetais e de suas gestações. MÉTODOS: Estudo observacional retrospectivo das gestantes que realizaram biópsia de vilo corial (BVC), amniocentese e cordocentese no período de fevereiro de 2005 a dezembro de 2009. Não foram incluídos outros procedimentos diagnósticos ou procedimentos terapêuticos. O resultado da gestação foi obtido através de consulta de prontuário eletrônico e/ou físico e/ou contato telefônico. RESULTADOS: Foram realizados 713 procedimentos (113 BVC, 340 amniocenteses e 260 cordocenteses). A principal indicação para a realização dos procedimentos invasivos foi a presença de alterações estruturais nos fetos, seguido por valores aumentados da translucência nucal e pela idade materna avançada. O cariótipo fetal esteve alterado em 186 casos (26,1%). A trissomia do cromossomo 18 foi a aneuploidia mais comum, seguida pela trissomia do 21, a monossomia do X e a trissomia do cromossomo 13. Ocorreram 4,9% de abortamento, 25,7% de natimortos e 13% de neomortos. Oito gestantes optaram pela interrupção judicial, e 99% das gestantes cujos fetos não apresentavam malformação e que apresentavam cariótipo fetal normal tiveram nativivos.
OBJECTIVE: To characterize the indications of pregnant women who sought the Fetal Medicine Services of the Hospital das Clínicas, at the Medical School of the Universidade de São Paulo for performing invasive diagnostic procedures, and to evaluate the results of fetal karyotypes and their pregnancies. METHODS: A retrospective and observational study on pregnant women who underwent chorionic villus sampling (CVS), amniocentesis, and cordocentesis in the period from February, 2005 to December, 2009. Other diagnostic or therapeutic procedures were not included. The result of pregnancy was obtained by consulting patient electronic records, medical records, and/or telephone call. RESULTS: 713 procedures were performed (113 CVS, 340 amniocenteses, and 260 cordocenteses). The main indication for performing invasive procedures was the presence of structural changes in fetuses, followed by increased values of nuchal translucency, and advanced maternal age. Fetal karyotype was altered in 186 cases (26.1%). The 18 trisomy was the commonest aneuploidy followed by the 21 trisomy, X monosomy, and 13 trisomy. There were 4.9% cases of miscarriage, 25.7% cases of stillborn infants, and 13% cases of neonatal deaths. Eight pregnant women opted for legally induced abortion. 99% of pregnant women whose fetuses did not present abnormalities and presented normal fetal karyotype had infants who were born alive.