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OBJECTIVES: In this study, we aimed to assess the diagnostic accuracy of prenatal Ultrasonography (USG) and Magnetic Resonance Imaging (MRI) in fetal congenital anomalies. STUDY DESIGN: A retrospective cross-sectional analysis was conducted on 148 patients who had previously undergone prenatal MRI between January 2013 and May 2023. A total of 185 anomalies in 148 fetuses were evaluated using USG and MRI. The prenatal diagnoses were compared with definitive diagnoses and were classified as diagnosed, partially correct, questionable, or undiagnosed. In addition, USG and MRI findings were compared in terms of their consistency and consolidation. RESULTS: The postnatal evaluation revealed a total of 185 anomalies in 148 fetuses. USG diagnosed 94% of these anomalies, while MRI diagnosed 95.1% of them. Both USG and fetal MRI were able to diagnose 91.9% (n=170) of anomalies during the prenatal period. Fetal MRI provided an additional contribution to USG in the diagnosis of six anomalies (3.24%). CONCLUSION: In fetuses undergoing detailed ultrasonography and specialized neurosonography by experienced professionals, additional fetal anomalies exclusively detected through MRI are now found to be lower than previously documented. However, fetal MRI is presently employed to offer supplementary information, and advice, and assist in clinical decision-making. In the future, extensive prospective studies with standardized protocols for ultrasound imaging of the fetal brain are necessary to better understand the true role of fetal MRI in cases where fetal neurosonography has already been performed. [ABSTRACT FROM AUTHOR]

The purpose of this study was to assess the additional contribution of karyotyping compared with genome-wide non-invasive prenatal testing (NIPT) for pregnancies at intermediate risk for trisomy 21 (T21), calculated using the maternal serum screening without major structural anomalies detected through sonography. Karyotype results of all pregnancies undergoing invasive prenatal diagnostic testing between January 2013 and March 2022 were obtained from a large hospital-based laboratory. Pregnancies with no major structural anomalies on ultrasound (including soft markers) and an intermediate risk for T21 on maternal serum screening were included in this study. The additional contribution of karyotyping for abnormal karyotype results was calculated after excluding results that could theoretically be identified with genome-wide NIPT. Among the 511 pregnancies analyzed, 13 (2.54%) were found to have abnormal karyotype results, 9 (1.76%) of which could theoretically have been detected with genome-wide NIPT. Within the cohort, 6/263 (2.28%) of women aged 35 years and older, and 3/248 (1.20%) of women younger than 35 years had results that could have been detected with genome-wide NIPT. After excluding results detectable using genome-wide NIPT, the additional contribution of karyotyping was found as 4/502 (0.79%) for the entire cohort, 2/257 (0.77%) for women aged 35 years and older, 2/245 (0.81%) for women younger than 35 years. Of the 511 examined pregnancies at intermediate risk for T21 by maternal serum screening, genome-wide NIPT would have failed to detect 4 of 13 abnormal karyotype results. The findings hold importance in guiding couples' informed decision-making processes regarding their choice of genetic screening and diagnostic testing in case of intermediate risk for T21., (© 2024 The Author(s). Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)