Genetic Counseling - GeneticCounseling .,

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Genetic Counseling Genetic counseling is a communication process that deals with human problems associated with the occurrence or  risk of a genetic disorder in a family. Counseling involves genetic screening, whereby a high-risk or general population  is analyzed to detect the presence of disease, and case finding for couples at potential risk based on medical/family  histories. The process can be prospective (counseling delivered to a client/couple of reproductive age before conception  or before the birth of an affected child), or it can be retrospective/postnatal (counseling delivered after the birth of an  affected child). In many cases, however, the need for genetic counseling first becomes apparent during the first  trimester.  (Refer also to care plan [CP]: The High-Risk Pregnancy, as appropriate.) CLIENT ASSESSMENT DATA BASE Circulation Hypertension Bleeding Ego/Integrity May express feelings of inadequacy Food/Fluid Weight gain may be inappropriate for gestational stage (smaller gain may negatively affect fetus). Maternal insulin-dependent diabetes. Presence of eating disorders (e.g., anorexia nervosa, bulimia, or obesity). Safety Infection (e.g., STDs, pelvic inflammatory disease) Presence of seizure disorder, degree/method of control Significant exposure to radiation, toxic chemicals, or infectious teratogens (e.g., rubella, toxoplasmosis,  cytomegalovirus [CMV], HIV/AIDS), postnatal infections (e.g., meningitis, encephalitis); postnatal  nutritional/stimulatory deprivation Breech presentation (especially with anencephaly) Sexuality History of two or more first-trimester abortions, fetal demise, or previous child with chromosomal abnormality Birth trauma or identifiable genetically transmitted disorder Use of ovulation stimulant such as clomiphene (Clomid) or menotropins (Pergonal) Social Interaction Interfamily marriage/sexual activity (consanguinity) Guilt/blame toward self and/or partner who carries defective gene Teaching/Learning Positive family history/pedigree of known genetic or inherited disorders (e.g., sickle cell, cystic fibrosis, hemophilia,  phenylketonuria, craniospinal defects, renal malformations, thalassemia, Huntington’s chorea) familial disorders  (cancer, heart disease, diabetes, allergies), congenital abnormalities (Down syndrome, mental retardation, neural  tube defects), or inborn metabolic disorder (e.g., maple syrup urine disease, Tay-Sachs disease) Ethnic background at risk for specific disorder (e.g., black African, Mediterranean, Ashkenazi Jewish) Maternal age >35 years Drug usage (alcohol; over-the-counter [OTC], prescribed, or street drugs; anticonvulsant medication)
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DIAGNOSTIC STUDIES
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This note was uploaded on 02/01/2011 for the course PNR 182 taught by Professor Toole during the Spring '10 term at Orangeburg-Calhoun Technical College.

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Genetic Counseling - GeneticCounseling .,

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