Chapters Transcript Video Prenatal phenotype of 47, XXY (Klinefelter syndrome) Maternal-fetal medicine expert, Angie Jelin, M.D., discusses research around prenatal diagnosis of phenotype of Klinefelter syndrome. Research Publication: https://doi.org/10.1002/pd.6071 Klinefelter syndrome or 47 X. X. Y. Is the most commonly occurring sex chromosome. An employee with an estimated incidence of approximately one in 660 live male births, Klinefelter can present in childhood with developmental delay, learning disability and behavioral disturbances or in adulthood. With infertility and osteoporosis. Studies have suggested that prenatal diagnosis is associated with a less severe phenotype than post natal diagnosis, perhaps related to the role of early intervention and treatment in Ameliorating some of the known complications. Further achieving a prenatal diagnosis enables more opportunities for prenatal education, focused counseling and prenatal management. Prenatal diagnosis of Klinefelter has traditionally been low with reported rates of 10-13%. In part this has been attributed to an absence of prenatal findings on ultrasound with increased utilization of cell free DNA. More patients are considering diagnostic testing for patients. A better understanding of the prenatal phenotype may help inform decision making. In order to obtain additional information on the phenotype, we collaborated with three other institutions to pool our data and create a case series of fetuses with Cida genetically confirmed client center syndrome. Ultrasound reports were reviewed in detail to assess for characteristic findings, we were able to report on the findings of 41 cases with a confirmed diagnosis, 29.2% of which had an abnormal ultrasound finding the following features were identified, increased nuclear translucency ventricular medley for me and hyperplasia. Semi Luber hollow, pros and subtly clubbed feet. Short femurs and Hemery cardio medley and eca genic bowel. In conclusion, this case series expands our knowledge of the prenatal presentation of Klinefelter by identifying 1st and 2nd trimester fetal sonogram findings. Prenatal identification of this condition enables accurate counseling, focused prenatal management and early postnatal interventions to ameliorate some of the known complications. Created by Related Presenters Angie Jelin, MD EXPERTISE Amniocentesis, Chorionic Villus Sampling, Fetal Anomalies, Fetal Ultrasound, High Risk OB, Obstetrics, Pregnancy and Childbirth, Women's Reproductive Health View full profile
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