Cystic fibrosis screening

The integration of universal cystic fibrosis screening in women's health has considerably altered the way we care for obstetric patients and likely will be the foundation for incorporating other genetic tests into routine women's health care. Prior to this change in the standard of care, screening for genetic disease was primarily limited to those individuals who had a personal or family history of the genetic condition or who belonged to a particular ethnic or racial group characterized by a high frequency of carrier and affected individuals. However, technological advances have resulted in facile and economic methodologies for detecting an increasing number of genetic mutations and in the realization that screening for common and uncommon disorders will likely be a not-too-distant-future part of routine health care. Programs that permit clinicians to properly implement genetic protocols and allow patients to make informed decisions about genetic screening and diagnostic tests are needed. The implementation of universal cystic fibrosis screening allows clinicians to recognize the benefits and pitfalls of genetic testing of the general population and encourages the development of programs that will effectively communicate genetic information to professionals and laity.     

Genetic competencies essential for health care professionals in primary care

The completion of the sequencing of the human genome in 2003 signaled the onset of the genomic era in health care. The knowledge gleaned from the Human Genome Project has led to the understanding that every health problem has a genetic component and that clinicians should include the application of genetic information in all aspects of health care. This article describes the genetic competencies essential for all health care professionals in primary care. Health care professionals should augment their current practice by obtaining a multigenerational genetic family history for each patient, assessing all patients for potentially heritable conditions, providing referrals to genetic health professionals as needed, offering genetic testing when indicated, and considering an individual's genetic makeup in the selection of medications and treatments for that person. Finally, all health care professionals ought to be prepared to address the complex personal, cultural, theological, ethical, legal, and social issues associated with genetic testing and other genetic issues commonly encountered in clinical practice.     

Pre-existing mental health disorders and pregnancy

Mental health conditions are independent risk factors for poor obstetric and neonatal outcomes therefore obstetricians need to be able to manage them well. This review will summarize the management of pre-existing mental health disorders in pregnancy. Explanations will be given as to which women are managed in primary care for their mental health conditions and which women are managed in specialist Perinatal Mental Health Services. When women should be referred to perinatal mental health services is described. The article provides recommendations on the obstetric management of these women as well as information on psychotropic medication in pregnancy and lactation.     

Family History Screening: Use of the Three Generation Pedigree in Clinical Practice

With a growing understanding of genetic disorders in the scientific and lay literature, it is becoming increasingly important to consider risk factors based on family history and ethnicity for identifying individuals for whom genetic testing is indicated and will be most beneficial. A pedigree helps to identify patients and families who have an increased risk for genetic disorders, to optimize counselling, screening, and diagnostic testing, with the goal of disease prevention or early diagnosis and management of the disease. Information should be updated periodically as new information regarding family history is acquired. This review was designed to provide a rationale for and an approach to obtaining a three-generation pedigree for patients who are seen as new assessments or those under ongoing care by primary care or specialist physicians, as well to summarize some resources available for constructing a useful pedigree.     

Reproductive options for individuals at risk for transmission of a genetic disorder

The basis of human growth and development has long been considered to be one of the great mysteries of science and mankind. The portal to understanding this mystery was achieved by the Human Genome Project and Celera Genomics in 2001, with their joint announcement of the sequencing of 99% of the human genome map. Current reproductive options, however, remain restricted to the prevention of transmitting an at-risk gene or genes, but do not include treatment or cure. It is anticipated that this state of "halfway technology" will continue for years to come. As such, the scientific and ethical issues associated with each of these reproductive options will continue to affect the decision making of at-risk individuals. As the omnipresent health care provider, nurses have a duty to know and disseminate accurate and current information about reproductive options for individuals at risk for transmission of a genetic disorder. Nurses also have a duty to advocate for and ensure the privacy and confidentiality of genetic information.     

Examination of the adolescent patient

Adolescent patients need knowledge and motivation to practice a healthy lifestyle. The provider of adolescent health care is uniquely qualified to provide factual health information and practical advice. Enlisting parental support for confidential adolescent health services usually is not problematic when parents and health care providers share common goals and responsibility. The health care provider must develop rapport to foster high-risk health behavior disclosure and must promote health messages that are stronger than those received from peers, television, movies, and magazines. Adolescents who elect to abstain from sexual activity need as much support as sexually active patients. Depression, substance abuse, and eating disorders must be recognized and treated. Preventative health care services for adolescents can be optimized when office staff understand the special needs of these young women. The physician's concerns regarding the health of adolescent patients will be welcomed by patients, their parents, and the community.     

Siblings of sudden infant death syndrome victims.

The overall low recurrence rate of SIDS (< 2%) and the lack of concordance in twins are against SIDS being a genetic disorder. The most likely explanations for an increased incidence in siblings are that SIDS constitutes a mixed group of disorders that includes some genetic diseases and some disorders that are known to be recurrent but not genetic, and that some recurrences occur in families in whose lives there is severe deprivation, with many risk factors for SIDS, and in other families whose infant care practices, while not being overtly wrong, increase the risk of SIDS. With improving identification and management of these disorders and risk factors, it is expected that the incidence of SIDS, and, particularly, recurrent incidence in a family, will decrease. The best advice that can be given to families who have had an infant die from SIDS is that for most families the risk of another death from SIDS is very low (< 1%) and that if SIDS does recur, there will not be a prolonged period of suffering for the child. With this information and the recognition by most families that they do not regret having had the child who died, most families are prepared to welcome another pregnancy.     

Management of genetic disorders during pregnancy.

Using several specific genetic diseases as examples, this article has illustrated basic genetic principles that can be applied to many clinical situations. Practicing obstetricians must be aware that advances are being made daily in the care of patients with inherited disorders and in prenatal diagnosis. A fundamental understanding of human genetics is essential in order to offer optimal care for patients during their reproductive years.     

Obstetrics and gynecology resident education in tobacco, alcohol, and drug use disorders

Substance use disorders are common problems that all primary care physicians will encounter. These disorders have a significant impact on the health of all affected women throughout their lifespan. It is important to know the effects of drug use on women, so primary care residents need to be prepared to discuss substance use disorders with their patients. Residents also need to know that brief interventions can reduce risky behaviors even if they do not result in abstinence.     

The placenta and neurologic and psychiatric outcomes in the child: Study design matters

Much information exists about functions of the human placenta and about potential mechanisms by which the placenta may influence human health or disease, including developmental disorders of brain. Recent studies indicate a high frequency of placental pathology in infants with developmental brain disorders, or with risk factors for such disorders. However, most clinical studies of the association of placental features with adverse neurologic or psychiatric outcome have substantial methodologic limitations. We discuss issues of study design as they relate to studies of the placenta and human brain disorders.In addition to the need for further consensus on procedures and terminology for placental evaluation, there are a number of special features that make clinical studies of the association of placental features with neurologic and psychiatric disorders especially difficult: most such disorders are not diagnosed until months or years after the majority of placentas have been discarded; these disorders are individually uncommon, so that prospective studies - needed to provide denominator data to enable estimation of risks - will require very large sample sizes; the administrative structures required to relate features of the placenta with clinical outcome will be complicated and costly. We offer some suggestions concerning study design in the face of these practical difficulties.Systematic and methodologically rigorous exploration of the role of the placenta in human developmental brain disorders has scarcely begun. A new generation of studies, difficult but potentially enormously rewarding, will be needed for clinical investigations of the placenta and fetal brain development.     

Genetics education for midwives

Advances in genetic science have increased the number of health interventions undertaken with regard to genetic disorders. Genetics is therefore expanding into the domains of national screening programmes, disease prediction and pharmacogenetics. This expansion means that a growing range of health professionals, including midwives, need skills and knowledge in genetics in order to take on new roles. The government is increasingly recognising the importance of genetic science for health and an expansion of genetic services is now underway. It is acknowledged that education of a wide range of health professionals will be required, although current educational provision does not reflect this. A growing range of genetic disorders can now be detected by prenatal tests, including chromosome disorders and single gene disorders. Pregnant women may choose to discuss their concerns with midwives, who therefore need to understand genetic testing, and know what disorders can be detected and when to refer women to specialist genetic services. Their clients would also benefit from midwives having sufficient skills to understand the processes of genetic counselling, which would enable them to discuss the decision to undertake a test, help women to cope with the result and minimise its effects on the family. Educational provision on genetics for midwives is insufficient and has not been coherently planned. A strategy is being developed to provide a framework for genetics education for front-line healthcare professionals. This aims to meet the needs of practising professionals who are already being asked to take on genetic roles, and also ensure future practitioners receive pre-registration education in genetics. Practising midwives and their teachers are invited to take part in this process.     

Postgenomic medicine. Presymptomatic testing for prediction and prevention

Significant changes are occurring in genetic screening paradigms. Genetic screening is moving from traditional analytes, such as small molecules and proteins, to molecular genetic testing involving DNA and RNA. There are significant consequences to these changes, involving issues for the family unit, such as misattribution of parentage, and concerns regarding discrimination, confidentiality, and privacy. Although these latter issues have broader concerns for medicine and medical information, in the context of genetic testing, information derived from one individual can have a significant impact on others within their family. Screening is also changing from mendelian disease ascertainment to predictive testing. Issues that arise involve appropriate age at testing for adult-onset disorders, the clinical validity and clinical use of genetic testing for complex diseases, and the efficacy of interventions following genetic testing. We are also learning that the phenotypes of even simple mendelian disorders are influenced by complex genetic and environmental factors. The observations that genotypes rarely predict phenotypes absolutely have significant ramifications for counseling based on mutation analysis, for example in neonates who have not yet manifested symptoms and in older children and in adults undergoing predictive testing. Molecular genetic testing often proceeds rapidly from the research laboratory to the clinical setting. We must recognize that for single-gene disorders with high penetrance, the information derived from such testing may be relatively easy to interpret and apply. For complex diseases, however, the populations studied and their demographic characteristics are extremely important for extrapolation to counseling of individual patients. The value of population-based predictive testing is exemplified by newborn screening. It is clear that the Human Genome Project, and the information and technologies from it, will have a much broader impact on public health by presymptomatic prediction and prevention of disease.     

Assisted Reproductive Technologies: Genetic and Nursing Implications

The convergence of the fields of clinical genetics and assisted reproductive technologies is providing couples at risk for transmitting a genetic disorder to their children with new reproductive alternatives. The ability to test the preimplantation embryo for genetic anomalies, sort for X- and Y-bearing sperm, and improve genetic screening of gamete donors and couples at risk for a genetic disorder, are examples of these alternatives. The scope of nursing practice will be affected by the integration of these technologies into the health care offered to consumers. Opportunities also will exist for nurses to assist in the redefinition of health and illness that will be the serendipitous outcome of these scientific advances.     

Screening for single gene genetic disease

The screening and directed testing for genetic disease caused by single gene mutations is an expanding part of the overall scheme of prenatal care. In addition to reproductive choice, carrier screening and fetal diagnostic testing afford the important opportunity for preparation of the family and the delivery site for the birth of a fetus with a known genetic disorder. Increasingly the primary care provider in pregnancy bears the burden of engaging patients in discussions regarding available genetic tests appropriate to their family or personal history, their ethnic group, and with every patient for a limited but growing number of diseases. Ethnic-based risk identification and testing has expanded recently with, for example, the addition of familial dysautonomia for patients of Askhenazi ancestry. Widespread, or nearly universal, screening has emerged for cystic fibrosis and new initiatives are gaining momentum for prenatal maternal carrier screening for fragile X syndrome. The fruits of the human genome project will undoubtedly lead to the identification of more genes that underlie human disease. This will expand the menu of possible prenatal testing options and will raise the level of complexity in both counseling, testing logisitics and health care resource allocation.     

Cancer genetics and women's health

It is now known that all cancer is genetic in origin. Although most cancer occurs by chance, approximately 5% of individuals inherit specific genetic mutations that predispose them to cancer. The genetic characteristics of some cancers are known. Such information can be useful to health care providers in the clinical setting for treatment, early detection, and prevention. This article reviews basic carcinogenesis as well as genetic syndromes that predispose women to breast, ovarian, colorectal, and endometrial cancer. Knowledge of hereditary cancer syndromes and familiarity with them will assist the advanced practice nurse in the management of patients who are at risk. Cancer continues to contribute substantially to the mortality of women in all age groups. Knowledge of these syndromes provides an excellent opportunity to decrease mortality by early detection and prevention.     

Genetic-Based and Assisted Reproductive Technology of the 21st Century

The scientific advances of human genetics and assisted reproductive technology are redefining the concepts of health and illness by revealing the mysteries of the human genome and the process of conception, implantation, and diagnostic testing of the human embryo. The effect of these discoveries and their clinical applications will move from the tertiary to primary care arena through the ability to readily screen, diagnose, and treat some disorders and offer cure as the end result for others. In addition, the ethical, legal, and social issues, along with the attendant implications for professional practice, will need to be identified. Only a small portion of nurses have had to address the knowledge and practice issues associated with these advances. "Brave new families" are being created. Perinatal nurses must be prepared to meet the emerging needs of these families through the art and science of nursing.     

Cesarean delivery on maternal request versus planned vaginal delivery: impact on development of pelvic organ prolapse

Pelvic floor disorders (PFDs) (ie, pelvic organ prolapse, urinary and fecal incontinence) are prevalent and impact quality of life as well as our health care system. It has been estimated that the demand for health care related to PFDs will increase at twice the rate of the population itself. This speaks to the fact that PFDs are an important women's and public health issue, warranting studies aimed at their prevention.     

Gearing up your office for primary care

As managed care dominates more of the heathcare market, ob/gyns will be called upon to provide a wider range of primary care services to women. Primary care ob/gyns and their office staffs will need a whole-person approach to health promotion and disease prevention. Primary care physicians will be expected to care for the everyday problems that cause women to seek medical attention. Common problems such as respiratory illness, musculoskeletal complaints, gastrointestinal disorders, urinary complaints, and skin rashes are the everyday problems for which women need advice and treatment. In our society, stress related illness is so common that any primary care physician needs to have the ability to address the psychosocial aspects of each woman's complaints. Finally, some chronic illness should be cared for by the primary care physician, especially in the early stages. Specifically, all primary care physicians should be able to competently care for hypertension, diabetes, arthritis, and thyroid disease in their uncomplicated stages. Providing comprehensive primary care for women will require time, effort, and training for physicians and their office staffs.     

SOURCES OF INFORMATION ON WOMEN'S AND INFANTS' HEALTH

Just as the conscientious clinician strives to maintain currency in clinical practice, the certified nurse-midwife (CNM) should also be well informed about population-based developments in the state of women's and infants'health and health care. Informative reports on a variety of topics are issued regularly by government agencies and nongovernmental organizations. Currency in this literature can provide the CNM with a sound basis for public education and legislative efforts, as well as a richer context for the care of individual women and infants. In the following article, selected sources of information on women's and infants'demographic characteristics, socioeconomic status, fertility and natality, health, and health care use will be identified. Recent publications will be cited to illustrate the types of information available from government agencies and nongovernmental organizations.