Fetal cardiac abnormalities: Genetic etiologies to be considered |
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Authors: | Florencia Petracchi Silvina Sisterna Laura Igarzabal Louise Wilkins-Haug |
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Institution: | 1. Sección Genética Departamento de Ginecología y Obstetricia, CEMIC Instituto Universitario, Buenos Aires, Argentina;2. Harvard Medical School Department of Obstetrics, Gynecology and Reproductive Medicine Division Chief Maternal Fetal Medicine and Reproductive Genetics, Brigham and Women's Hospital, Boston, MA |
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Abstract: | Congenital heart diseases are a common prenatal finding. The prenatal identification of an associated genetic syndrome or a major extracardiac anomaly helps to understand the etiopathogenic diagnosis. Besides, it also assesses the prognosis, management, and familial recurrence risk while strongly influences parental decision to choose termination of pregnancy or postnatal care. This review article describes the most common genetic diagnoses associated with a prenatal finding of a congenital heart disease and a suggested diagnostic process. |
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