Issues in prenatal counseling and diagnosis in Turner Syndrome

The advent of prenatal diagnosis in Turner Syndrome (TS) has brought with it challenges. Diagnosis may be prompted by characteristic abnormalities on prenatal ultrasound such as congenital heart disease and hydrops. Alternatively, diagnosis may be made incidentally on amniocentesis or chorionic villus sampling due to advanced maternal age. In cases of prenatal counseling, it is essential that counseling is provided by physicians and genetic counselors who are well-informed regarding TS and are aware of the current resources available. This chapter serves as a review of recent scientific literature regarding prenatal diagnosis in Turner Syndrome.