Efficacy of Genetic Sonogram For Predicting Aneuploidy In a High-Risk Pregnancy Population

Abstract

AİM: This study evaluates the efficacy of genetic sonogram for predicting aneuploidy in high-risk pregnancies. METHODS: This retrospective study included 1363 pregnant women who underwent a second trimester genetic sonogram due to high-risk pregnancy. Sensitivity, specificity, odds ratio, (+) and (-) likelihood ratios were calculated for each of the ultrasonography markers. RESULTS: Among the high-risk pregnancy study population, there was no significant difference regarding advanced maternal age, presence of a relative with Down Syndrome, history of anomaly in the previous pregnancy, hyperechogenic bowels, pyelectasis, nuchal fold thickness > 5 mm, ventriculomegaly, choroid plexus cyst, single umbilical artery, or presence of right echogenic intracardiac focus between the control and aneuploidy groups (p>0.05). Tricuspid regurgitation, hypoplasia/absence of nasal bone, short femur, short humerus and left echogenic intracardiac focus were associated with increased risk of aneuploidy (p<0.05). The risk of aneuploidy was increased by 14.45 fold (95% CI 2.90-71.85) in cases with tricuspid regurgitation, 18.01 (5.46-59.32) fold by hypoplasia/absence of nasal bone, 9.74 (3.70-25.65) fold by presence of short femur, 11.42 (4.30-30.30) fold by presence of short humerus, and 4.20 (1.39-12.64) fold with the presence of left echogenic intracardiac focus. Analysis of combined markers showed that hypoplasia/absence of nasal bone + short humerus + tricuspid regurgitation resulted in the highest risk (OR = 11.20, LHR = 7.53). CONCLUSION: İn some countries, where NIPT are not thoroughly diffused,Genetic sonography is recommended for Down syndrome risk modification in high-risk pregnancies.

Keywords

• aneuploidy,pregnancy,genetic sonogram

References

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