Prenatal management, pregnancy and pediatric outcomes in fetuses with septated cystic hygroma

It has been reported that, compared with simple increased nuchal translucency, fetal cases with septated cystic hygroma (CH) are more likely to face perinatal handicaps. However, pediatric outcomes and proper prenatal counseling for this anomaly have not yet been truly defined. We performed this study to determine pregnancy and pediatric outcomes of fetuses with septated CH. We searched records for cases with septated CH and collected data for structural abnormalities, karyotype analysis, and pregnancy outcomes. Fetuses born with septated CH were also evaluated for their pediatric outcomes. Sixty-nine fetuses with septated CH were enrolled in the study. Results showed that chromosomal abnormalities were present in 28 fetuses (40.6%), and the most common aneuploidy was Turner syndrome (n=14, 20.3%); 16 (23.2%) of the remaining cases, in which aneuploidy was not found, had coexistent structural malformations; 25 (36.2%) cases had normal karyotype and morphology. The total number of live births and infants with unfavorable neurologic follow-up were 13 (18.8%) and 2 (2.9%), respectively. Septated CH is associated with poor perinatal outcomes; therefore, karyotype analysis and ultrasonographic anomaly screening should be performed as initial steps, and expectant management should be offered to couples with euploid fetuses that have normal morphology.

Marcadores ecográficos del segundo trimestre como indicadores de riesgo de cromosomopatías / Second trimester echographic markers as chromosome-diseases risk indicators

Los marcadores ecográficos del segundo trimestre, han revolucionado la estimación del riesgo para cromosomopatías, permiten identificar gestantes con riesgo incrementado. OBJETIVOS: realizar una evaluación preliminar de los marcadores ecográficos del segundo trimestre, como indicadores de riesgo para cromosomopatías, en pacientes que se realizaron diagnóstico prenatal citogenético. MÉTODOS: se realizó un estudio descriptivo retrospectivo de corte transversal, con el objetivo de realizar una evaluación preliminar de la utilidad de los marcadores. Para la realización de esta investigación fueron revisadas todas las historias clínicas de las gestantes que se sometieron a estudio citogenético en el Departamento Provincial de Genética de Ciudad de la Habana, perteneciente al Hospital Ginecoobstétrico Ramón González Coro, en el período comprendido entre enero de 2006 y diciembre de 2007. De ellas, se estudiaron 230 gestantes que asistieron a esta consulta con la intención de evaluar los marcadores ecográficos del segundo trimestre, que con más frecuencia constituyeron indicadores de riesgo de cromosomopatías, constituyeron la muestra para estudio. RESULTADOS: de las 15 pacientes con cromosomopatías, solo una tuvo marcadores negativos, lo que muestra una asociación de marcadores positivos y diagnóstico de aberraciones cromosómicas. Los marcadores que mostraron mejor valor predictivo fueron el Higroma Quístico, el CIUR y el Pliegue Nucal aumentado. CONCLUSIONES: cuando no existen marcadores ecográficos positivos del segundo trimestre, esto permite afirmar con una probabilidad de 98 por ciento que el producto de la gestación no posee una alteración cromosómica

Second trimester echographic markers have revolutionize the risk estimation for chromosome diseases, allowing to identify an increase risk in pregnants. OBJECTIVES: to carry out a preliminary assessment of second trimester echographic markers like risk indicators for chromosome diseases in patients with a cytogenetics prenatal diagnosis. METHODS: a cross-sectional, descriptive and retrospective study was conducted to make a preliminary assessment on markers usefulness. In this assessment all clinical records of pregnants with cytogenetics study were reviewed in Provincial Genetics Department of Havana City from Ramón González Coro: Gynecology and Obstetrics Hospital between January, 2006 and December, 2007. From that total, 230 pregnants seen in this consultation were studied to assess the second trimester echographic markers more frequent like risk indicators of chromosome diseases, were the study sample. RESULTS: from the 15 patients presenting with chromosome diseases, only one had negative markers, showing a relation between positive markers and diagnosis of chromosomal aberrations. Markers with a better predictive value were Cystic Hygroma, IUGR and a increased nuchal fold. CONCLUSIONS: when there are not second trimester positive echographic markers, it allows confirm with a 90 percent of probability that fetus has not chromosomal alteration