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)
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)
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
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)
DIAGNOSTIC STUDIES
Chromosomal Analysis: Using buccal smear/serum.
Prenatal Diagnosis:
Amniocentesis (at 14–16 wk): Determines sex chromatin (rules out sex-linked disorders), karyotype (rules out chromosomal disorders), biochemical studies (rules out inborn errors of metabolism), elevation of AFP levels reflecting neural tube defects (NTDs).
Ultrasonography (using real time) Preceding/During Amniocentesis: Rules out missed abortion, visualizes term pregnancies, and helps to identify genetic/congenital problems. (Current research awaiting validation suggests a scan using a vaginal probe can be done as early as 10 weeks’ gestation to screen for Down syndrome by looking for an accumulation of fluid in the neck of the fetus.)
Serum AFP Levels (16–18 wk): Identifies NTDs; if abnormality high/low, test is repeated.
Triple-Screen (MSAFP3): Maternal serum testing at about 16 weeks’ gestation measures AFP, unconjugated estriol, and human chorionic gonadatropin (HCG) to detect problems such as open spinal or ventral wall defects, anencephaly, Down syndrome, and trisomy 18.
Amniography/Fetography: Identifies gross problems, such as major soft-tissue abnormalities, esophageal/duodenal atresia, and bone abnormalities, using special x-ray technique (may be potentially teratogenic).
Fetoscopy (considered experimental, of limited availability): Permits direct visual examination of the fetus and sampling of fetal blood/tissue samples to diagnose hereditary blood disorders (e.g., sickle cell anemia, hemophilia).
Chorionic Villi Sampling (CVS) (at 8–10 wk): May replace amniocentesis as a genetic diagnostic tool because it is performed earlier, and results are reported in 7–10 days, which is particularly beneficial if a first-trimester termination is being considered.
Prenatal Diagnosis:
Amniocentesis (at 14–16 wk): Determines sex chromatin (rules out sex-linked disorders), karyotype (rules out chromosomal disorders), biochemical studies (rules out inborn errors of metabolism), elevation of AFP levels reflecting neural tube defects (NTDs).
Ultrasonography (using real time) Preceding/During Amniocentesis: Rules out missed abortion, visualizes term pregnancies, and helps to identify genetic/congenital problems. (Current research awaiting validation suggests a scan using a vaginal probe can be done as early as 10 weeks’ gestation to screen for Down syndrome by looking for an accumulation of fluid in the neck of the fetus.)
Serum AFP Levels (16–18 wk): Identifies NTDs; if abnormality high/low, test is repeated.
Triple-Screen (MSAFP3): Maternal serum testing at about 16 weeks’ gestation measures AFP, unconjugated estriol, and human chorionic gonadatropin (HCG) to detect problems such as open spinal or ventral wall defects, anencephaly, Down syndrome, and trisomy 18.
Amniography/Fetography: Identifies gross problems, such as major soft-tissue abnormalities, esophageal/duodenal atresia, and bone abnormalities, using special x-ray technique (may be potentially teratogenic).
Fetoscopy (considered experimental, of limited availability): Permits direct visual examination of the fetus and sampling of fetal blood/tissue samples to diagnose hereditary blood disorders (e.g., sickle cell anemia, hemophilia).
Chorionic Villi Sampling (CVS) (at 8–10 wk): May replace amniocentesis as a genetic diagnostic tool because it is performed earlier, and results are reported in 7–10 days, which is particularly beneficial if a first-trimester termination is being considered.
NURSING PRIORITIES
1. Assist client/couple/family to recognize and understand specific situation.
2. Facilitate therapeutic use of informational resources.
3. Provide ongoing emotional support.
2. Facilitate therapeutic use of informational resources.
3. Provide ongoing emotional support.
DISCHARGE GOALS
1. Copes effectively with situation
2. Completes counseling process
3. Understands information specific to individual situation
2. Completes counseling process
3. Understands information specific to individual situation
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