Desempenho do ultra-som pre-natal como metodo para diagnostico de cromossomopatias fetais




The objective of this study was to determine the performance of ultrasound in detecting risk pregnancies as to fetal cytogenetical abnormality. A group of 454 patients was retrospectively studied. They underwent ultra-sound and fetal karyotype over the last five years. A total of 291 women presented abnormal ultrasound and 163 presented normal ultrasound. Ultrasound specificity and sensitivity were determined in order to identify fetal abnormal karyotype, having fetal karyotype as the gold standard. The relative risk of cytogenetical abnormality was estimated for each anomalous fetal system and for each fetal malformation diagnosed by ultra-sound. The risks were estimated by the presence of one or more fetal malformation diagnosed by ultrasound. Statistical analysis was performed with the software EPI-INFO 6.0 (Public domain). The highest risks were observed in the case of fetal facial malformations, abdominal wall malformations, cardiovascular and limb abnormalities. Malformations in lungs, urinary tract, central nervous system, neck and gastrointestinal tract, presented similar risks but inferior to the first ones mentioned. Genitalia, thorax, spinal column, skeleton and muscle malformations occurred in small numbers and their relative risks were not estimated. The risk of fetal chromosomal abnormalities was always higher in the presence of multiple anomalies detected by ultrasound. It was concluded that ultrasound had a good performance in detecting risk pregnancies as to fetal cytogenetical abnormalities


ultra-som feto

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