Dr. Mar Gabriela Tovar Ayala

About the Doctor

Physician with a specialty in Medical Genetics from UNAM and Hospital General de Mexico "Dr. Eduardo Liceaga", certified by the Mexican Board of Genetics A.C. Among the services offered are diagnosis and counseling for congenital and/or genetic diseases, in different areas such as: - Reproductive health: Aimed at patients who have fertility problems and/or recurrent pregnancy loss. Pregnant women for prenatal diagnosis or screening (cell-free fetal DNA in maternal blood), ruling out conditions in the fetus such as Down syndrome, history of a fetus with malformations or in the current pregnancy, and high-risk pregnancies. - Postnatal chromosomal alterations: Down syndrome, Turner syndrome, Klinefelter syndrome, microdeletion syndromes, among others. - Cancer predisposition syndromes: Identifying or ruling out whether the cancer present in the patient or family could be hereditary. - Congenital defects: Cleft lip/palate, heart disease, polydactyly, ear pinna hypoplasia, etc. - Genetic syndromes related to: o Intellectual disability/developmental delay o Neuromuscular disorders: Huntington's disease, muscular dystrophies, myotonic dystrophy, Parkinson's disease, etc. o Skin disorders: neurofibromatosis, tuberous sclerosis, ichthyosis. o Short stature and/or skeletal dysplasias: achondroplasia, Silver Russell syndrome, etc. o Hearing loss o Disorders of sexual development o Others: Prader Willi syndrome, Bardet-Biedl syndrome, Fabry disease, Marfan syndrome, hemophilia, etc. The goal of the genetics consultation is to identify the cause and basis of the congenital or hereditary diseases occurring in an individual or family, carry out interventions to avoid complications secondary to the disease or minimize its severity, select the ideal study to confirm or rule out the disease, analyze the treatment options available, as well as support the family in understanding the genetic disease affecting them, and estimate risks of transmission or recurrence.

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