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First trimester screening in pregnancies with intermediate risk for fetal chromosomal abnormalities


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Abstract

The first or second trimester are used to determine whether a pregnant woman’s baby has an increased risk of having chromosomal abnormality. The aim of this study was to ensure necessary reassessment of pregnant women at intermediate risk to adjust their risk to high or low risk. 137 singleton pregnant women at 11-13(+6) weeks’ gestational and intermediate-risk (risk of between 1:100 and 1:1000) detected in the first trimester screening using nuchal translucency (NT), β-hcG and PAPP-A protocol. Then, they were subdivided into a high-intermediate-risk group (risk score between 1:101 and 1:250) and a low-intermediate group (between 1:251 and 1:1000). All measurements performed by experienced gynecologist. Amniocentesis was offered to all women of our study. All cases were followed for chromosomally abnormal outcome until delivery. Of 137 cases at intermediate risk, 97 (70.8%) were under 35-year-old. The mean score of age was 32.12 ± 5.5. Only 21 (15%) accepted to undergo amniocentesis. Of 21 (15%) cases, 14 (66%) had low-intermediate risk. Ultimately, one case of Klinefelter syndrome and one case of Turner were detected among all patients who underwent amniocentesis. Both cases were in low-intermediate risk group. In addition, we followed-up those who did not undergo amniocentesis until delivery; they had not any chromosomal abnormality. Regardless of age, women at intermediate risk need further examination to adjust their risk to high or low risk for chromosomal abnormalities.



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