ABSTRACT
BACKGROUND: Genetic amniocentesis is performed in México 25 years ago but only few works have been published. OBJECTIVE: To analyze clinical and cytogenetic findings in consecutive patients submitted to genetic amniocentesis. MATERIAL AND METHOD: An analysis was made of the clinical features, amniocentesis results and pregnancy outcome in 1500 consecutive cases of genetic amniocentesis. RESULTS: Sixty-eight fetuses with chromosomopathy (4.5%) were detected and two, with an inborn error of metabolism. The most frequent abnormalities were trisomy 21 (32 cases), trisomy 18 (10 cases), trisomy 13(6 cases), 45,X (6 cases), 47,XXY (4 cases). Pregnancy outcome is known in 474 patients (32%). There were five fetal losses (1%). Of the 68 cases with chromosomopathy, the outcome is known in 45, of which, 29 (64%) decided to have an abortion while 16 (35%) continued the pregnancy, six had a spontaneous abortion or perinatal death and ten had an alive new born. Among fetuses with normal or balanced karyotype and normal ultrasound, 11 out of 419 (2.6%) had congenital anomalies. Two of them had a condition known to be related with epigenetic regulation, (Russell Silver and Angelman syndrome). CONCLUSIONS: Amniocentesis is a reliable and low risk method. Cytogenetic findings in this series are similar to those reported in the literature. Most patients with fetal disease decided to have an abortion. The finding of two patients with a condition related with abnormal epigenetic regulation suggests that the magnitude of this risk remains to be defined.
Subject(s)
Amniocentesis , Chromosome Disorders/diagnosis , Abortion, Eugenic , Adult , Amniocentesis/adverse effects , Amniocentesis/statistics & numerical data , Chromosome Disorders/embryology , Chromosome Disorders/genetics , Female , Fetal Death/epidemiology , Gestational Age , Humans , Infant, Newborn , Karyotyping , Mexico , Middle Aged , Mucopolysaccharidosis VII/diagnosis , Mucopolysaccharidosis VII/embryology , Mucopolysaccharidosis VII/genetics , Niemann-Pick Diseases/diagnosis , Niemann-Pick Diseases/embryology , Niemann-Pick Diseases/genetics , Obstetric Labor, Premature , Pregnancy , Pregnancy Outcome , Pregnancy, Multiple , Retrospective Studies , Risk , Ultrasonography, Prenatal , Young AdultABSTRACT
BACKGROUND: The association of pregnancy and cancer is a rare event, occurring in less than 1 case per 5,000 pregnancies, and is a cause of maternal mortality in about 5% of cases. CASE: A 33-year-old, Japanese woman presented at the end of pregnancy with clinical manifestations of pneumonia and developed fatal disseminated intravascular coagulation in the postpartum period. The pathologic findings suggested the existence of a primary cancer in the gastrointestinal tract with pulmonary and placental metastases. CONCLUSION: The biologic course of malignancies in pregnancy is complex. In gastrointestinal cancer, normal pregnancy symptoms can mask and delay the diagnosis. As in this patient, very rare presentations are possible.
Subject(s)
Adenomatosis, Pulmonary/diagnosis , Disseminated Intravascular Coagulation/complications , Gastrointestinal Neoplasms/diagnosis , Lung Neoplasms/diagnosis , Pregnancy Complications, Neoplastic/diagnosis , Acute Disease , Adenomatosis, Pulmonary/complications , Adenomatosis, Pulmonary/secondary , Adult , Fatal Outcome , Female , Gastrointestinal Neoplasms/complications , Gastrointestinal Neoplasms/pathology , Humans , Infant, Newborn , Lung Neoplasms/complications , Lung Neoplasms/secondary , Male , Postpartum Period , Pregnancy , Pregnancy Complications, Neoplastic/pathology , Pregnancy Trimester, ThirdABSTRACT
El objetivo del estudio fue evaluar si el uso de diferentes métodos de hemostasia de los pedículos tiene efecto sobre la morbilidad relacionada con la histerectomía vaginal asistida laparoscópicamente (LAVH). Fue realizada una revisión de los casos de 53 pacientes sometidas a LAVH evaluándose el método de hemostasia de los pedículos y la frecuencia de complicaciones. Hubo cinco pacientes con hemorragia transoperatoria y dos con lesión vesical que fueron tratadas satisfactoriamente sin complicaciones. No hubo diferencia significativa en la aparición de hemorragia transoperatoria con respecto al método de hemostasia utilizado. No hubo complicaciones quirúrgicas mayores en el grupo total de pacientes estudiadas. Como conclusión, la LAVH ofrece las ventajas de la cirugía laparoscópica con escasa morbilidad postoperatoria. Todos los métodos utilizados en este trabajo para hernostasia de los pedículos en LAVH se consideran seguros y efectivos para pacientes con las indicaciones más frecuentes para realizar histerectomía.
