Use of Nuchal Translucency and Supplementary Ultrasound Markers in Chromosomal Abnormality Detection in Consanguineous Pregnancies
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Abstract
Background: First-trimester ultrasound screening plays an important role in early fetal risk assessment, particularly in populations where consanguineous marriage is common and the burden of congenital and genetic disorders may be increased. Nuchal translucency is an established sonographic marker associated with chromosomal abnormalities, while supplementary markers such as nasal bone status and ductus venosus flow may improve early risk stratification. Objective: To evaluate the association of nuchal translucency and supplementary first-trimester ultrasound markers with chromosomal abnormality status among pregnant women undergoing early fetal assessment. Methods: This cross-sectional observational study included 59 pregnant women assessed during the first trimester. Maternal age, gravida, crown-rump-length-based gestational age, nuchal translucency, fetal heart rate, consanguinity status, nasal bone status, ductus venosus flow, and chromosomal abnormality status were recorded. Descriptive statistics, independent-samples t-tests, chi-square or Fisher’s exact tests, correlation analysis, and exploratory logistic regression model-fit assessment were performed using SPSS version 27. Results: Outcome-valid data were available for 58 participants. Mean nuchal translucency was higher in the chromosomal abnormality presence group than in the absence group (3.85 ± 0.45 mm vs. 1.64 ± 0.37 mm; p < 0.001). Consanguineous marriage was significantly associated with chromosomal abnormality status (p = 0.002). Absent nasal bone and abnormal ductus venosus flow showed complete concordance with chromosomal abnormality status in the analysed sample (p < 0.001). Fetal heart rate, maternal age, and gravida were not significantly associated with the outcome. Conclusion: Increased nuchal translucency, absent nasal bone, abnormal ductus venosus flow, and consanguinity were associated with chromosomal abnormality status. Combined first-trimester ultrasound marker assessment may support early fetal risk stratification, although larger studies with confirmed chromosomal outcomes are needed.
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