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}
}
Purpose To define and discuss five genetic disorders Tay‐Sachs, sickle cell anemia, Canavan's dis‐ease, thalassemia, and cystic fibrosis (CF)—and to explain the importance of the nurse practitioner's (NP's) assessment of clients' ethnicity during preconception counseling, which should address these genetic conditions. Data Sources Review of literature from professional journals, professional organizations' Web sites, guidelines from the American College of Obstetricians and Gynecologists, the… 

Figures and Tables from this paper

An overview of ethnicity and assessment of family history in primary care settings

The ability to effectively conduct and evaluate the individual's and family’s health risk through a multigenerational family history will be important in diagnosis, health promotion, disease prevention, and the determination for genetic counseling referral and predictive testing when appropriate.

Ashkenazi Jewish population screening for Tay–Sachs disease: The International and Australian experience

There is a need for definitive guidelines for healthcare professionals to facilitate extension of the proven benefits of preconception TSD screening to all AJ individuals at risk and a model for universal AJ TSD preconception and antenatal screening for the primary care setting is proposed.

Developing and optimizing a decisional instrument using self-reported ancestry for carrier screening in a multi-ethnic society

A decisional instrument to assess ancestry-based eligibility for cystic fibrosis and/or hemoglobinopathies carrier screening, is now available and can with slight adaptations be used in other countries.

Impact of Pre-Conception Health Care: Evaluation of a Social Determinants Focused Intervention

A program designed to mitigate the effects of social class and stress in contrast to a matched comparison group and other relevant populations showed promising results related to reducing infant mortality and reducing other high-risk factors for poor birth outcomes.

Tay Sachs Disease: Analysis Of Australian Screening Strategies (1995-2013)

The structure of this thesis is described as follows: research background and literature review, human research ethics committee approvals, and publications and presentations arising from this thesis.

Physiology, Active Transport

The importance of active transport is apparent when considering the various defects throughout the body that can manifest in a wide variety of diseases, including cystic fibrosis and cholera, all because of an impairment in some aspect of active Transport.

References

SHOWING 1-10 OF 43 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.

Preconception genetic counseling.

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.

Preconception genetic counseling.

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.

Genetic and clinical features of hemoglobin H disease in Chinese patients.

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.

Sickle cell disease in childhood: Part I. Laboratory diagnosis, pathophysiology and health maintenance.

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.

  • P. Lane
  • Medicine, Biology
    Pediatric clinics of North America
  • 1996

Unintended pregnancy in the United States.

  • S. Henshaw
  • Medicine
    Family planning perspectives
  • 1998
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.

The β-Thalassemias

Thalassemia is a disease of Mediterranean origin occurring in children of Italian origin and associated with splenomegaly and characteristic bone changes not confined to the Mediterranean, but occurring widely.