The past decade produced important advances in molecular genetic techniques potentially supplanting the traditional cytogenetic\ndiagnosis of Turner syndrome (TS). Rapidly evolving genomic technology is used to screen 1st trimester pregnancies for sex\nchromosomal anomalies including TS, and genomic approaches are suggested for the postnatal diagnosis of TS. Understanding the\ninterpretation and limitations of new molecular tests is essential for clinicians to provide effective counseling to parents or patients\nimpacted by these tests. Recent studies have advanced the concept that X chromosome genomic imprinting influences expression\nof the Turner phenotype and contributes to gender differences in brain size and coronary disease. Progress in cardiovascular MRI\nover the past decade has dramatically changed our view of the scope and criticality of congenital heart disease in TS. Cardiac MRI\nis far more effective than transthoracic echocardiography in detecting aortic valve abnormalities, descending aortic aneurysm, and\npartial anomalous pulmonary venous return; recent technical advances allow adequate imaging in girls as young as seven without\nbreath holding or sedation. Finally, important developments in the area of gynecological management of girls and young women\nwith TS are reviewed, including prognostic factors that predict spontaneous puberty and potential fertility and recent practice\nguidelines aimed at reducing cardiovascular risk for oocyte donation pregnancies in TS.
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