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Indications for Genetic Evaluation/Counseling

  • Family history of a known genetic condition such as Neurofibromatosis, Cystic Fibrosis, Huntington Disease, or Marfan Syndrome


  • Family history of a known chromosome disorder such as Down Syndrome, Trisomy 18, Trisomy 13, Turner Syndrome, or Klinefelter Syndrome


  • Recurrent miscarriages, stillbirth, or neonatoal deaths


  • Birth defects or unusual physical features


  • Prenatal abnormal test results from MSAFP screen, amniocentesis, CVS, or ultrasound


  • Prenatal exposures that could cause abnormal development in the embryo or fetus such as use of alcohol and certain drugs


  • Hereditary cancers such as breast, ovarian, multiple endocrine neoplasia, and colon


  • Abnormalities affecting one or more of the following body systems:

    • Central Nervous System disorders such as seizures; mental retardation or developmental delay; psychiatric illness; autism; heritable neurodegenerative conditions; or neuromuscular disorders


    • Growth Abnormalities such as failure to thrive, macrocephaly, microcephaly, asymmetric or disproportionate growth


    • Hearing or Vision loss


    • Skin abnormalities in pigmentation or presence of lumps and bumps


    • Skeletal abnormalities such as scoliosis, unusual stature or proportions, excessive fractures or dislocations, joint hyperextensibility or extra digits


    • Genital and urinary tract abnormalities


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