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PubMed2002

Grown-up congenital heart (GUCH) disease: current needs and provision of service for adolescents and adults with congenital heart disease in the UK.

This report addresses the needs and problems of grown-up congenital heart (GUCH) patients and makes recommendations on organisation of national medical care, training of specialists, and education of the profession. The size of the national population of patients with grown-up congenital heart disease (GUCH) is uncertain, but since 80-85% of patients born with congenital heart disease now survive to adulthood (age 16 years), an annual increase of 2500 can be anticipated according to birth rate. Organisation of medical care is haphazard with only three of 18 cardiac surgical centres operating on over 30 cases per annum and only two established specialised units fully equipped and staffed. Not all grown-ups with congenital heart disease require the same level of expertise; 20-25% are complex, rare, etc, and require life long expert supervision and/or intervention; a further 35-40% require access to expert consultation. The rest, about 40%, have simple or cured diseases and need little or no specialist expertise. The size of the population needing expertise is small in comparison to coronary and hypertensive disease, aging, and increasing in complexity. It requires expert cardiac surgery and specialised medical cardiology, intensive care, electrophysiology, imaging and interventions, "at risk" pregnancy services, connection to transplant services familiar with their basic problem, clinical nurse specialist advisors, and trained nurses. An integrated national service is described with 4-6 specialist units established within adult cardiology, ideally in relation or proximity to university hospital/departments in appropriate geographic location, based in association with established paediatric cardiac surgical centres with designated inpatient and outpatient facilities for grown-up patients with congenital heart disease. Specialist units should accept responsibility for educating the profession, training the specialists, cooperative research, receiving patients "out of region", sharing particular skills between each other, and they must liaise with other services and trusts in the health service, particularly specified outpatient clinics in district and regional centres. Not every regional cardiac centre requires a full GUCH specialised service since there are too few patients. Complex patients need to be concentrated for expertise, experience, and optimal management. Transition of care from paediatric to adult supervision should be routine, around age 16 years, flexibly managed, smooth, and explained to patient and family. Each patient should be entered into a local database and a national registry needs to be established. The Department of Health should accept responsibility of dissemination of information on special needs of such patients. The GUCH Patients' Association is active in helping with lifestyle and social problems. Easy access to specialised care for those with complex heart disease is crucial if the nation accepts, as it should, continued medical responsibility to provide optimal medical care for GUCH patients.

Adolescent↗
PubMed2003

Cystic fibrosis: selecting the prenatal screening strategy of choice.

Cystic fibrosis is a serious disorder. Research into the treatment of affected individuals is in progress, but a cure is not expected in the near future. In this review, we demonstrate that prenatal screening for cystic fibrosis meets the requirements for a worthwhile screening programme. We explain the reasons that have led us to conclude that one approach ('couple screening') is the method of choice. The couple-based approach calls for reporting results to the couple as a unit. Only if both parents are found to be carriers is the result designated screen-positive and an amniocentesis or chorionic villus sampling offered. This offers a substantial reduction in the proportion of women with unaffected pregnancies with positive results (the false-positive rate) compared with other methods without reducing the detection of affected pregnancies. It also avoids creating a screen-positive group for which no definitive diagnosis is available. This is a problem with other screening methods. The couple method can achieve a 72% detection rate for a 0.1% false-positive rate. The screening method is simple, non-invasive, reliable, safe and reasonably cost effective. Existing programmes have shown that screening using this method is acceptable to health care professionals and patients. Setting up a national prenatal screening programme for cystic fibrosis is timely and should be implemented using the couple screening method.

Adult↗
PubMed1998

Cirrhosis and portal hypertension in pregnancy.

Cirrhosis and portal hypertension infrequently coincide with pregnancy but increase maternal and fetal morbidity and mortality when present. Chronic liver disease and portal hypertension are not contraindications to pregnancy but necessitate intensive monitoring throughout pregnancy. The complications of liver disease are numerous and pose additional risks. Management of complications arising during pregnancy is similar to management in the nonpregnant patient. Provision of optimal care for mother and fetus can require the skills of multiple specialties such as maternal fetal medicine, gastroenterology, nutrition, and surgery. This report provides guidelines for the management of cirrhosis and portal hypertension in pregnancy.

Counseling↗
PubMed2005

Fertility and pregnancy in thalassemia major.

Over the last 15 years, 22 women with thalassemia major have completed 29 pregnancies at the Royal Hospital in London. The major pre-pregnancy issues, medications, and pregnancy care are reviewed. Experience suggests that, with proper care and guidance, pregnancies among women with thalassemia major are practical and can have successful outcomes.

Abortion, Therapeutic↗
PubMed1999

Pre-conception diabetes care in insulin-dependent diabetes mellitus.

Prospective studies of pre-conception diabetes care have confirmed its positive impact on the incidence of malformations by improving glycaemic control. Less information is available on the impact of pre-conception care on maternal and neonatal morbidity. This audit addresses its impact on timing and mode of delivery, incidence of macrosomia and rate of admission to neonatal unit care in addition to sociodemographic factors which may influence attendance at such a service. Attenders were more likely to be in a stable relationship and be non-smokers. They were more likely to book for antenatal care earlier and with a lower glycated haemoglobin. There were no early deliveries (i.e. < 30 weeks) or small for gestational age (SGA) babies in those who attended for pre-conception care and no neonatal deaths. Admission to NNU care was reduced by 50% in those who attended for pre-conception care. Although the rate of macrosomia was reduced, there was no impact on the Caesarian section rate. A pre-conception diabetes clinic may have a positive impact on neonatal morbidity.

Cesarean Section↗
PubMedDate not supplied

Preimplantation genetic diagnosis to prevent disorders in children.

Preimplantation genetic diagnosis (PGD) is an alternative reproductive option for couples at risk of having a child affected with a genetic disorder. Although prenatal diagnosis (PND) has been available for many years, it is not acceptable to many owing to issues relating to termination of pregnancy. PGD involves assisted-reproductive technology, even though most couples undertaking it are fertile. However, if the treatment is successful, the couple will not have to consider PND. PGD is only available at a small number of centres and for a limited number of genetic conditions. It is a complex and time-consuming procedure. The success rate is around 20%, consequently, there is a relatively low chance of success and this requires careful consideration by couples who generally can become spontaneously pregnant. However, PGD is now more widely understood and available to all at the point of referral. This article sets out to explain the PGD procedure, its implications, limitations, and regulation in the UK and to discuss associated dilemmas.

Female↗
PubMedDate not supplied

Nurses' role in preventing birth defects in offspring of women with phenylketonuria.

Most women who began nutrition support as neonates for a diagnosis of phenylketonuria, an inherited defect in phenylalanine metabolism, are of normal intelligence, no longer require a restricted diet, and wish to have children of their own. Phenylketonuria that is untreated when a woman conceives and during gestation results in poor reproductive outcomes. Treatment with and careful monitoring of a phenylalanine-restricted diet can improve reproductive outcome. Nurses have the primary responsibility in locating women of childbearing age with phenylketonuria; developing strategies to improve palatability of the diet, thereby enhancing compliance; providing ongoing monitoring and support of the mother-child dyad; and counseling couples at risk.

Congenital Abnormalities↗
PubMed2007

Reduction in orofacial clefts following folic acid fortification of the U.S. grain supply.

BACKGROUND: Folic acid fortification in the United States became mandatory January 1, 1998, to reduce the occurrence of neural tube defects (NTDs). We evaluated the impact of folic acid fortification on orofacial clefts using United States birth certificate data for 45 states and the District of Columbia. METHODS: Prevalence ratios (PRs) were calculated comparing orofacial cleft prevalence among births prefortification (1/1990-12/1996) and postfortification (10/1998-12/2002), based on fortification status at conception. The JoinPoint Regression Program and exponentially weighted moving average charts (EWMA) were used to assess the timing of any statistically significant changes in prevalence. Data were stratified by maternal race/ethnicity, age, smoking, and timing of prenatal care. RESULTS: Orofacial clefts declined following folic acid fortification (PR=0.94; 95% CI: 0.92-0.96). The EWMA chart flagged a significant decrease in the fourth quarter of 1998. The JoinPoint graph had one change in slope, with a significant quarterly percent change (-0.34) between 1996 and 2002. The decline in orofacial clefts occurred in non-Hispanic Whites but not other racial/ethnic groups, nonsmokers but not women who reported smoking during pregnancy, and women who received prenatal care in the first trimester but not women who began receiving care later in pregnancy. CONCLUSION: Folic acid fortification in the United States was associated with a small decrease in orofacial cleft prevalence, with the timing of the decline consistent with the introduction of fortification. The decline is much smaller than that observed for NTDs, but nonetheless suggests an additional benefit of this public health intervention.

Cleft Lip↗
PubMed1997

Clinical guidelines on contraception and diabetes.

Diabetic women present an interesting challenge to the reproductive health-care physician and gynecologist. Good preconceptual counselling reduces the risk of adverse consequences of the pregnancy to the mother and the fetus and should be encouraged. Poor metabolic control has been linked with an increased risk of congenital malformations. The low-dose combined pill (COC) does not appear to increase the risk of diabetes in women with a history of gestational diabetes. Young healthy diabetic women under 25 years old may be prescribed the low-dose COC with careful metabolic monitoring. The copper intrauterine contraceptive device is a useful choice in diabetic women with vascular disease, proliferative retinopathy and nephropathy. The progestogen-only pill and barrier methods may sometimes have unacceptable failure rates in diabetic women who may require to avoid a pregnancy at any cost. When a couple's family is complete, sterilization and vasectomy should be encouraged.

Contraception↗
PubMed1992

Prepregnancy care and prevention of birth defects.

Birth defects and disturbances in growth and development need an increasing attention in perinatal medicine. It is remarkable that so little attention has been paid to the pathogenesis of malformations in the literature in an approach to find aspects of prevention. Primary prevention of birth defects is an important public health issue as malformations have important consequences both for society and the individuals concerned. Prepregnancy care as a logical precursor to antenatal care, offers risk-assessment, advice and occasionally treatment before pregnancy, in order to avoid congenital malformations. It is therefore that we started a research program with emphasis on primary prevention of congenital malformations. In this respect medication, maternal nutritional status, diabetes mellitus and neural tube defects are discussed.

Congenital Abnormalities↗
PubMed2003

Maternal phenylketonuria: experiences from the United Kingdom.

Charles Dent was one of the first physicians to recognize the teratogenic effects of maternal phenylalanine (Phe) on the fetus in 1956. This article describes the clinical experiences of women with phenylketonuria (PKU) within the unit that was established by Dent in the United Kingdom. Between 1977 and 2002, 79 infants were born to women with PKU. Of the 79, 18 (23%) were conceived while the women were on a normal diet with high blood Phe levels. The mean birth weight was 2.89 kg, and head circumference was 32.8 cm. At 1 year, the mean developmental quotient was 105.5 and at 4 years was 82.3. Four of these infants had congenital heart disease (2 of whom died as a result). In the remaining 61 infants, Phe-restricted diet started before conception. None of them had congenital heart disease. The mean birth weight was 3.23 kg, and head circumference was 34.0 cm. At 1 year, mean developmental quotient was 108.0 and at 4 years was 90.9. They continue to be followed up with additional neuropsychometric assessments at 8 and 14 years of age. This cohort is a proportion of infants who were born to mothers with PKU in the United Kingdom. Between 1978 and 1997, 255 live births were reported. Of these, 56% were conceived on unrestricted diet with subsequently poor outcome. This relatively high rate of conception off PKU diet is likely to reflect the scarcity of medical services for adults with metabolic disorders. We conclude that many features of the maternal PKU syndrome can be prevented but still occur because of the lack of appropriate resources to care for at-risk women. The precise targets for blood Phe and other nutrients during pregnancy are not entirely clear, neither are the reasons that some offspring are spared the harmful effects of Phe. The impact of the postnatal environment in which these infants find themselves requires additional assessment, too.

Birth Weight↗
PubMed2005

Trends and predictors of folic acid awareness and periconceptional use in pregnant women.

OBJECTIVE: The purpose of this study was to describe recent trends in folic acid awareness and use in the periconceptional period among pregnant women in relation to maternal sociodemographic and other relevant factors. STUDY DESIGN: From 1988 to 2002, 16,555 women from the Slone Epidemiology Center Birth Defects Study were interviewed about medication use before and during pregnancy (which included multivitamins and folic acid), about whether they were aware of any vitamins that might decrease the risk of birth defects, and about sociodemographic and medical factors. RESULTS: Awareness of folic acid benefits increased from 0 in 1988 to 50% in 1996 and thereafter. The use of folic acid in the periconceptional period increased from 15% in 1988 to 40% in the last few years. Maternal education was a strong independent predictor of both awareness and use as were ethnicity, whether the pregnancy was wanted, family income, and whether a health care provider was consulted before planning. CONCLUSION: Promoting the use of folic acid supplements, particularly among these disadvantaged groups, is essential to further decrease the prevalence of neural tube defects.

Adult↗
PubMed2005

Diabetes: lessons for midwives.

This study is larger than any other in describing pregnancy outcomes for women with pre-gestational diabetes. From the report, the three main messages for midwives are: Women with type 2 diabetes have a risk of poor outcome similar to those with type 1 diabetes. The same support and management of women with type 1 diabetes should be applied to women with type 2 diabetes pre-conceptionally and throughout the pregnancy and neonatal period. Pre-pregnancy care and advice should be made more flexible and advertised well in a variety of settings where diabetic women of childbearing age are most likely to see it. Women with diabetes should be encouraged and supported to breastfeed their babies from birth by giving them an understanding of the general and specific benefits this will provide.

Adult↗
PubMed2005

Pregnancy after stem cell transplantation.

QUESTION: A married woman under my care underwent successful bone marrow transplantation as part of treatment for a malignancy. She wishes to start a family. What are her chances? Are there risks? ANSWER: Success in becoming pregnant after stem cell transplantation depends on such factors as cumulative doses of chemotherapy and radiation and mother's age at time of transplant. There is increased risk of prematurity, low birth weight, and spontaneous abortion. Pregnancy should be managed as high risk.

Female↗
PubMedDate not supplied

Sexuality & cystic fibrosis.

The life expectancy for a child with Cystic Fibrosis has steadily increased over the past few decades from an average of 8 years in 1970 to 29.5 years in 1998. Nurses who care for this special population need to be open to discussions about the quality of life of these individuals, including sexuality, body image, and self-esteem. Specific information concerning expected body image, fertility, and safe-sex practices is essential. Males will want to know about their reproductive choices, and females will need to have counseling about the decision to become pregnant, including the genetic implications for both themselves and the unborn child.

Adolescent↗
PubMed2001

Maternal mortality: clinical implications of international perspectives.

Although the root causes of maternal mortality (MM) in nonindustrialized nations differ from those in the United States, some approaches to improving MM may be universal. Access to care is an issue in the United States aswell as internationally. There are many steps providers can take to improve access, from reducing language an cultural barriers, to taking adequate histories, to addressing such chronic conditions as obesity, diabetes, an hypertension before conception. When providers obtain adequate information before or during pregnancy, they can assess patient risk, plan educational and medical interventions, and introduce preventive measures that can reduce MM-in both the United States and the developing world.

Developed Countries↗
PubMed2001

Are women with recent live births aware of the benefits of folic acid?

Each year, approximately 4,000 pregnancies result in spina bifida or anencephaly, serious and often fatal conditions for the newborn. The B vitamin folic acid can reduce the incidence of these conditions by 50%-70%. To examine folic acid awareness among women who had recently delivered a live-born infant, CDC analyzed Pregnancy Risk Assessment Monitoring System (PRAMS) data for 1995-1998. The question used to measure awareness was, "Have you ever heard or read that taking the vitamin folic acid can help prevent some birth defects?" During the study period, overall folic acid awareness increased 15%, from 64% in 1996 to 73% in 1998, although changes varied by state. Despite this increase, differences in folic acid awareness were observed among different groups of women. Women who obtained a high school education or less; who were black, Hispanic, or from other racial/ethnic groups; who entered prenatal care after the first trimester; and whose pregnancies were unintended were less aware of folic acid. This study indicates that gaps persist among women in low socioeconomic groups. Overall, PRAMS data indicated an increase in folic acid awareness among women with recent deliveries. However, this awareness might be too late for the pregnancy that has occurred, indicating a continued need to educate all reproductive-aged women regarding the need to take folic acid before they become pregnant.

Dietary Supplements↗
PubMedDate not supplied

Genetics in perinatal nursing: clinical applications and policy considerations.

Genetics is becoming an important part of perinatal nursing care. The need for genetic counseling and referral may be identified before conception, early in pregnancy, upon the demise of a fetus with an abnormality, or after the birth of an infant with a genetic condition. Perinatal nurses often are present when parents first discover the presence of a genetic condition in their fetus or infant. Women who will be 35 at the time of their infant's birth and women who have family histories of genetic disorders should be offered appropriate screening tests.

Adult↗