Correlation of thickened nuchal fold with fetal chromosomal abnormalities among 919 cases / 中华医学遗传学杂志

Objective@#To explore the correlation between fetal nuchal fold (NF) thickening and fetal chromosomal abnormality.@*Methods@#In total 919 pregnant women undergoing ultrasound examination were selected for interventional prenatal diagnosis in order to detect fetal chromosomal abnormality.@*Results@#The detection rate of chromosomal abnormality has significantly increased with NF thickness, advanced maternal age, presence of other ultrasound abnormalities (P<0.05). Trisomy 21 was the most common abnormality, and there was a prepondance for male fetuses.@*Conclusion@#Increased NF thickness is strongly associated with the risk of fetal chromosomal abnormalities, advanced maternal age and presence of additional ultrasound abnormalities.

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

47,XYY male with increased nuchal fold thickness, choroid plexus cyst and limb anomaly: A case report / 대한산부인과학회지

47,XYY males are found in approximately 1 per 1,000 men. There is no significant difference in intelligence compared with a normal karyotype group. 47,XYY males are fertile and are considered to be relatively tall in stature owing to the increased growth velocity during the earliest childhood. It has been known that 47,XYY males are usually quite normally developed at birth with normal birth weight and length without any physical abnormalities. We have experienced a case of 47,XYY male with increased nuchal fold thickness, choroid plexus cyst and limb anomaly and we report the case with brief review of the literature. A 31-year-old woman, who had terminated her first pregnancy due to limb anomaly at 24 weeks gestation, received ultrasonography at about 16 weeks gestation and was found having a fetus with increased nuchal fold, choroid plexus cyst and limb anomaly. Through the genetic counselling, her pregnancy was terminated and the chromosome karyotyping was performed with the fetal tissue and parent's peripheral blood. The results revealed that the parents had normal karyotypes, but the karyotype of the fetus showed 47,XYY.