ABSTRACT
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
Subject(s)
Humans , Female , Pregnancy , Lymphangioma, Cystic/epidemiology , Lymphangioma, Cystic/etiology , Pregnancy Complications , Pregnancy Trimester, Second , Risk Factors , Chromosome Disorders/etiology , Chromosome Disorders/genetics , Ultrasonography, Prenatal/methods , Cross-Sectional Studies , Epidemiology, Descriptive , Retrospective StudiesABSTRACT
Comparative Genomic Hybridization (CGH) is a recently developed molecular cytogenetic technique, which makes it possible to detect chromosomal alteration in solid tumors. To determine whether chromosome alterations are related to cervical carcinoma, we have analyzed 33 cases (24 squamous cell carcinomas and 9 adenocarcinomas, stage Ib-IIIb) from tumor tissues and paraffin embedded tissues by CGH. The cut off value of CGH profiles was 1.15 and 0.85 (green/red ratio). Chromosomal aberrations were detected in 30 out of 33 cases (90.9%). In 32 cases, chromosome 3q was most frequently affected and had greater copy numbers in 20 of tbe 33 cases (60.6%). Interestingly, out of those 20 cases, 10 cases were shown to have a high-level of amplification of chr 3q. In addition to chr 3q, chromosomal gains were observed in chr 1q, 1p, 5p, Sq, 12p, 15q, 19q, 20q, Xp, and Xq. Furthermore chromosomal loss was detected, most commonly in chromosome 11q (11/33). Although less frequent, common losses were also detected in chr 2q, 4p, 4q, Sq, 1 1p, 17p, and 18p. In addition, there were cases of gross chromosome loss for chr 4, 6, 10, 11, 13, 14, 16, 17, 18, 19, 20, 21, 22 and X. In cases involving whole arm deletion, we utilized fluorescence in situ hybridization (FISH) using specific probes a-satellite. We performed HPV typing for 16 and 18 usiag polymerase chain reaction (PCR) and Southem blot analyses. Out of 33 tumor samples, 24 cases (72,7%) were HPV 16 positive, while only 6 cases were positive for HPV 18. two cases were positive for both HPV 16 and 18. We believe that a gain of chromosome 3q as a reeurrent chromosomal aberration may contribute to the tumorigenesis of cervical cancer. However, we could not correlate a pattern of chromosomal aberration with tumor stage or histologic type in cervical cancer.