The Appropriateness Criteria for the imaging screening of second and third trimester fetuses for anomalies are presented for fetuses that are low risk, high risk, have had soft markers detected on ultrasound, and have had major anomalies detected on ultrasound.The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.
Cornelia de Lange syndrome, also known as Brachmann–de Lange syndrome, is a congenital condition characterized by pre- and postnatal growth deficiency, limb deformities, typical face features, hirsutism, behavioral problems, cognitive delay, and failure to thrive after birth. This developmental genetic disorder ranges from mild to fatal with unknown etiology. The sonographic prenatal findings in a case of Cornelia de Lange syndrome at 22 weeks’ gestation, which demonstrated facial dysmorphism, upper and lower limb abnormalities, growth retardation, and cardiac abnormality and confirmed at 32 weeks and 2 days of gestation and at autopsy, are discussed. Fetal karyotyping was normal. Because 2D sonography is the primary imaging modality for evaluating the growing fetus, it is possible to use 3D sonography to precisely evaluate the facial dysmorphism and limb defects and make a specific diagnosis of this entity.
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