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
Embarazo ovárico poco común de presentación del embarazo ectópico. Su frecuencia varía entre 0.3-3.0 de todos los embarazos ectópicos. Se informa el caso de una paciente de 33 años sin patología pélvica previa, ingresada por dolor hipogástrico, hemorragia transvaginal una masa anexial derecha y prueba de embarazo positiva. El diagnóstico preoperatorio fue de embarazo ectópico tubario derecho. Este informe ilustra el uso exitoso de la laparoscopia en el tratamiento del embarazo ovárico primario
