RESUMEN
OBJECTIVE: Prenatal cytogenetic diagnostic methods for the diagnosis of fetal chromosomal anomalies have been used reliably over the last 40 years. Advanced maternal age has become a basic indication for amniocentesis. METHODS: We examined the results of the chromosome analyses of 3485 women that had amniocentesis for any reason during their antenatal care in our perinatology clinic in 2007-2009. Amniocentesis was performed for advanced maternal age in 1456 women (41.8%) and for other reasons in the remaining 2029 women (58.2%). Chromosomal anomalies were examined numerically and structurally. RESULTS: When the amniocentesis results of the patients were reviewed as numerically normal or abnormal; 40 (2.7%) of 1456 amniocentesis procedures performed for advanced maternal age, 5 (0.9%) of 531 procedures performed for an increased double-test risk and 14 (1.3%) of 1095 procedures performed for an increased triple test risk were found to have chromosomal aneuploidy. CONCLUSIONS: Maternal age is still the most prevalent indication for genetic amniocentesis other than positive prenatal screening tests. Among women with advanced maternal age, prenatal ultrasonography for soft markers of chromosomal aneuploidy accompanied with maternal serum biochemical screening tests should be evaluated during the decision making process of genetic amniocentesis.
Asunto(s)
Amniocentesis/estadística & datos numéricos , Edad Materna , Complicaciones del Embarazo/diagnóstico , Cariotipo Anormal/estadística & datos numéricos , Adulto , Amniocentesis/métodos , Síndrome de Down/diagnóstico , Síndrome de Down/epidemiología , Síndrome de Down/genética , Femenino , Humanos , Embarazo , Complicaciones del Embarazo/epidemiología , Complicaciones del Embarazo/etiología , Historia Reproductiva , Estudios Retrospectivos , Factores de Riesgo , Turquía/epidemiologíaRESUMEN
OBJECTIVE: The aim was to determine whether inherited thrombophilia increases the risk of pre-eclampsia (PE) or interferes with its clinical course. MATERIAL AND METHODS: We included 50 patients with severe PE and 50 healthy pregnant women. Patients were evaluated for inherited thrombophilia. RESULTS: Fourteen patients in the study group was factor V Leiden (FVL) carrier while it was 12% in the control group. In women with PE, FVL and other inherited thrombophilic factors were not more prevalent than in the controls. CONCLUSION: The present study failed to demonstrate an association between the inherited thrombophilias and PE.
Asunto(s)
Predisposición Genética a la Enfermedad , Preeclampsia/genética , Complicaciones Hematológicas del Embarazo/genética , Trombofilia/genética , Adulto , Peso al Nacer , Portador Sano , Estudios Transversales , Factor V/genética , Femenino , Humanos , Preeclampsia/sangre , Preeclampsia/diagnóstico , Embarazo , Complicaciones Hematológicas del Embarazo/sangre , Complicaciones Hematológicas del Embarazo/diagnóstico , Factores de Riesgo , Trombofilia/sangre , Trombofilia/diagnósticoRESUMEN
This report presents a case with partial trisomy 18q resulting from de novo unbalanced translocation of chromosomes 15 and 18 displaying the features of pure trisomy. This is the first reported case with partial trisomy 18q due to unbalanced translocation between chromosomes 15 and 18. Clinical findings of our case have been compared with the reported cases' had partial trisomy 18q and the importance to recognize the cases with chromosome abnormalities to give genetic counseling and prenatal diagnosis for subsequent pregnancies has emphasized.
