Assessing Ethnicity in Preconception Counseling: Genetics—What Nurse Practitioners Need to Know

@article{Edwards2004AssessingEI,
  title={Assessing Ethnicity in Preconception Counseling: Genetics—What Nurse Practitioners Need to Know},
  author={Quannetta T. Edwards and Diane C Seibert and Charles J. Macri and Caroline Harris Covington and Joan S Tilghman},
  journal={Journal of the American Academy of Nurse Practitioners},
  year={2004},
  volume={16},
  pages={472–480},
  url={https://api.semanticscholar.org/CorpusID:7644129}
}
The importance of the nurse practitioner's (NP's) assessment of clients' ethnicity during preconception counseling, which should address these genetic conditions, is explained.
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34 References

Preconception health care.

Before conception, women should be screened for human immunodeficiency virus and syphilis infection and begin treatment to prevent the transmission of disease to the fetus.

Genetic testing for cystic fibrosis.

Laboratory standards and guidelines for population-based cystic fibrosis carrier screening

Recommendations detailed here have been incorporated into a joint ACMG/ACOG/NIH Steering Committee document entitled “Preconceptual and Prenatal Carrier Screening for Cystic Fibrosis” which will be widely distributed.

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For the practitioner interested in a more in-depth analysis of the subject of preconception counseling, the two books listed as supplementary reading provide a wealth of information essential to the care of the patient planning a pregnancy.

Cystic Fibrosis

This issue discusses anxiety and depression and their impacts on disease outcomes and adherence to therapy, CFrelated diabetes, which differs from types 1 and 2 diabetes, and bone disease such as osteopenia and osteoporosis are more prevalent in CF patients than in the general population.

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Chinese patients with the nondeletional type of hemoglobin H disease had more symptoms at a younger age, more severe hemolytic anemia, and larger spleens and were more likely to require transfusions than patients with deletional hemoglobinH disease.

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Over the past 25 years, morbidity and mortality have decreased significantly in children with sickle cell disease, and screening tests are now available to diagnose the disease in newborns, and timely screening can identify complications such as retinal damage and chronic renal involvement, thereby ensuring prompt treatment.

Sickle cell disease.

Tay-Sachs disease

In 1881 British ophthalmologist Warren Tay reported a cherry-red spot on the retina of a oneyear-old patient, a patient who was also showing signs of progressive degeneration of the central nervous system as manifested in the child’s physical and mental retardation, leading to the lysosomal storage disorder known as Tay-Sachs Disease.

Unintended pregnancy in the United States.

Rates of unintended pregnancy have declined, probably as a result of higher contraceptive prevalence and use of more effective methods, and efforts to achieve further decreases should focus on reducing risky behavior, promoting the use of effective contraceptive methods and improving the effectiveness with which all methods are used.