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Genetics, Disease Counseling

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Genetics, Disease Counseling
Genetic Disease Diagnosis, Screening and Treatment
Advocacy and Decision Making in Genetics

Competencies for Contemporary Nursing Issues (GNT1)
Juanita Allen

Janette Barney
Western Governor 's University

Task 3
724.2.5-03-08
724.2.6-02-09

Mr. and Mrs. Trosack have recently been told through chorionic villus testing, that their unborn child has Tay Sachs disease.As the case manager there should be several appropriate members identified for an interdisciplinary team to obtain information for the Trosacks ' initial visit. Those team members include, a high risk obstetrician, or perinatologist, obstetric nurses, a geneticist, a social worker, and or genetic counselor who specializes in such genetic diseases, and it would be especially helpful if they had a family who previously had a child born with Tay Sach 's disease to relate to and for on going support. All members of the team should be able to work together to help this couple find answers, support and information they need to prepare them for what to expect during the pregnancy, after the child is born, and the development process as the child ages.

The high risk obstetrician or perinatologist is chosen to assist in Rita 's prenatal care, as well as providing individualized care to optimize her health discuss and fetal well being. The OB is who referred her to a geneticist for testing. Chorionic Villus Testing or CVS is usually performed between 10 and 12 weeks, this is where a sample is received from the developing placenta either through a thin tube inserted through the vagina or by inserting a needle through the abdomen. the placenta contains cells that are genetically identical to those of the fetus and the cells are examined for the presence of genetic diseases. Since Mr. and Mrs. Trosack are remarkably healthy, when receiving the news of their unborn child having Tay Sach 's they became very distraught. They do not understand how this could have happened and vacillate between

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