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  • Original Article

    Nuchal Translucency Measurement in the Screening of Chromosomal Abnormalities

    Rev Bras Ginecol Obstet. 2002;24(3):167-173

    Summary

    Original Article

    Nuchal Translucency Measurement in the Screening of Chromosomal Abnormalities

    Rev Bras Ginecol Obstet. 2002;24(3):167-173

    DOI 10.1590/S0100-72032002000300004

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    Purpose: to study the value of nuchal translucency (NT) measurement in the screening for chromosomal abnormalities at 10-14 weeks of gestation. Methods: a total of 1152 fetuses were studied consecutively. In 124 cases a cytogenetic study was performed on material obtained from a biopsy of the chorionic villus, and in 1028 cases the result was based on the postnatal phenotype. In addition to the routine ultrasonographic examination, all fetuses were submitted to measurement of the NT thickness. For statistical analysis Student's t test and ANOVA were used. Sensitivity, specificity, positive and negative predictive values, false-positive rate and likelihood ratio were calculated. Results: twenty-three cases of chromosomal abnormalities occurred. Of these abnormal cases, NT measurement was above the 95th percentile in 16 (sensitivity of 69.5%). In the group of normal fetuses (1129 cases), NT measurement was above the 95th percentile in 41 (specificity of 96.3%, positive and negative predictive values of 28.0% and 99.3%, respectively, false-positive rate of 3.7% and likelihood ratio of 19.1). Conclusion: our results suggest that the presence of chromosomal abnormalities may be strongly suspected when there is an increased NT thickness. One can infer that the quantitative NT analysis is sufficient to classify the risk of chromosomal anomalies in the first trimester of the pregnancy. Although the ultrasound operator's training and skill is still necessary, it is a method of clinical applicability.

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    Nuchal Translucency Measurement in the Screening of Chromosomal Abnormalities
  • Original Article

    Reverse blood flow in ductus venosus: new perspective in detection of chromosomal abnormalities

    Rev Bras Ginecol Obstet. 1999;21(7):371-376

    Summary

    Original Article

    Reverse blood flow in ductus venosus: new perspective in detection of chromosomal abnormalities

    Rev Bras Ginecol Obstet. 1999;21(7):371-376

    DOI 10.1590/S0100-72031999000700002

    Views2

    Purpose: to evaluate the possible value of pulsed and color Doppler of ductus venosus blood flow in the screening for chromosomal abnormalities at 10-14 weeks of gestation. Methods: the ductus venosus flow velocity waveforms and the nuchal translucency (NT) thickness were obtained immediately before the chorionic villus sample in 26 pregnancies. We employed the following criteria for the suspicion of chromosomal defects: reverse or absent flow during atrial contraction and NT greater or equal to 3 mm. We calculated the sensitivity, the specificity, the negative and positive predictive value for each of the above items. Results: there were 9 chromosomal abnormalities (3 cases of trisomy 21, 2 cases of trisomy 13, 1 case of trisomy 9, 1 case of trisomy 22, 1 triploidy and 1 monosomy X). Abnormal ductus venosus flow was observed in all cases (sensitivity of 100%). In the normal fetuses (17 cases) only 1 had abnormal flow (specificity of 94%). Concerning NT, the sensitivity and the specificity were 88% and 76%, respectively. Conclusion: our preliminary results suggest that the presence of chromosomal abnormalities may be strongly suspected when an increased NT thickness is associated with an absent or reverse flow in the ductus venosus. We speculated that both methods are valid in the screening of chromosomal defects.

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    Reverse blood flow in ductus venosus: new perspective in detection of chromosomal abnormalities

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