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Prenatal diagnosis, genetics and reproductive decision-making.

Recent developments in genetic science will potentially have a significant impact on reproductive decision-making by adding to the list of conditions which can be diagnosed through prenatal diagnosis. This article analyses the jurisdictional variations that exist in Australian abortion laws and examines the extent to which Australian abortion laws specifically provide for termination of pregnancy on the grounds of fetal disability. The article also examines the potential impact of pre-implantation genetic diagnosis on reproductive decision-making and considers the meaning of reproductive autonomy in the context of the new genetics.

Abortion, Eugenic↗

Pregnancy planning: a determinant of folic acid supplements use for the primary prevention of neural tube defects.

OBJECTIVE: Daily consumption of supplements containing 400 micrograms of folic acid in the periconception period may reduce the risk of neural tube defects (NTDs) by as much as 70%. However, despite explicit recommendations, folic acid consumption among women likely to become pregnant remains low. The objectives of this study were: to evaluate women's knowledge and beliefs with regard to folic acid; to estimate the frequency of vitamin supplement consumption; and to identify its determinants during the periconception period. METHODS: In 1999-2000, a questionnaire was completed by 1,240 pregnant women in 10 Quebec hospitals. RESULTS: Seventy percent of the respondents were aware of the preventive role of folic acid but only 25% had taken the recommended dose of supplements during the periconception period. Supplement consumption is associated with the pregnancy planning intensity score (OR: 1.06; 95% CI: 1.02-1.11), knowledge score (OR: 1.11; 95% CI: 1.07-1.16) and belief in the usefulness of supplements (OR: 1.56; 95% CI: 1.02-2.39). CONCLUSION: These results indicate that further efforts are needed to inform the population and promote the optimal use of folic acid supplements.

Dietary Supplements↗

Pregnancy planning guide. Evidence-based information for prospective parents.

PROBLEM BEING ADDRESSED: Pregnancy planning is inadequately supported by existing information and materials. OBJECTIVE OF PROGRAM: To design and pilot-test a new way to help women plan their pregnancies and incorporate important evidence-based information directly into their planning. To evaluate the content of the new Pregnancy Planning Guide and women's satisfaction with it. MAIN COMPONENTS OF PROGRAM: The Pregnancy Planning Guide combines a rotating gestational wheel surrounded by information about time-specific events in pregnancy with evidence-based information about common concerns during pregnancy. The guide is designed to be used as a quick reference for women and their partners; it highlights issues to be discussed at greater length with maternity caregivers. The guide was first evaluated for content validity by 27 experienced maternity caregivers and then revised. The revised version was given to 108 women of childbearing age along with a survey to assess their satisfaction with the guide and the extent to which they thought it was useful. CONCLUSION: The Pregnancy Planning Guide is useful for women planning pregnancy. It should promote increased use of folic acid in the periconception period and a greater understanding of when birth is likely to occur.

Adult↗

Folic acid and prevention of spina bifida and anencephaly. 10 years after the U.S. Public Health Service recommendation.

In September 1992, the U.S. Public Health Service (USPHS) recommended that all women capable of becoming pregnant should consume 400 microg of folic acid/day on an ongoing basis to reduce their risk for having a pregnancy affected by spina bifida and anencephaly (i.e., neural tube defects [NTDs]). The recommendation was preceded a year earlier by a CDC recommendation for women at high risk (i.e., those women who have had an earlier pregnancy affected by an NTD). The 1991 CDC recommendation stated that women at high risk should plan subsequent pregnancies and consume 4,000 microg/day of folic acid from the time they begin trying to become pregnant through the first trimester of pregnancy to reduce their risk. The 1992 USPHS recommendation specified that women at high risk should follow the general population recommendation for consumption of 400 microg/day when not trying to become pregnant.

Anencephaly↗

Preconception counseling about nutrition and exercise.

Being overweight and being underweight can both cause problems during pregnancy. Corrective intervention should be addressed during the preconception period. Preconception counseling is of particular importance for women on special diets or those who have conditions such as pica, anorexia nervosa, bulimia, and lactose intolerance. Supplements of folic acid and iron should be considered. Excesses of vitamin A, vitamin D, and caffeine should be avoided. Appropriate levels of exercise may be maintained during pregnancy and should be encouraged.

Counseling↗

Preconception management of chronic diseases.

Preconception counseling and evaluation are particularly important for women with chronic diseases. Women with diabetes and phenylketonuria should have their diseases under excellent control before conception to prevent miscarriage or birth defects. Counseling of women with asthma, epilepsy, hypertension, and depression can clarify concerns about possible adverse effects on the fetus of the medications used to treat their conditions. Women with a history of venous thrombosis should be assessed for prophylactic treatment during pregnancy, and this is best done before conception. Women with autoimmune diseases, cardiac disease, and renal disease should be assessed for severity of disease and advised of the risks of pregnancy.

Chronic Disease↗

Folic acid campaign and evaluation--southwestern Virginia, 1997-1999.

A needs assessment conducted in rural southwestern Virginia in 1996 indicated higher rates of birth defects in that region than in the entire state. In response to these findings, in January 1997 the regional perinatal council conducted a community folic acid information campaign designed to raise awareness about the 1992 Public Health Service recommendation that all women who are capable of becoming pregnant consume 400 microg (0.4 mg) of the B vitamin folic acid every day to decrease their risk for having a pregnancy affected with spina bifida or other neural tube defects (NTDs). This report describes the information campaign and the findings from precampaign and postcampaign surveys, which showed a significant increase in reported awareness and knowledge of the benefits of folic acid and reported knowledge about the sources of folic acid.

Adolescent↗

[Fragile X syndrome: premature ovarian failure. Preimplantation and preconception genetic diagnosis].

Although it is generally accepted that women who are carriers of the premutation of the fragile X syndrome (FXS) show no pathological clinical features, several studies have shown that they have a higher incidence of premature failure of their ovaries (early menopause) than the general population. However, when women who are carriers of the complete mutation are studied, no relation is seen between the two conditions. All women who are carriers of the premutation of the FMR1 gene should be informed that they have a greater possibility than the general population (10-15 times) of having an early menopause. Pre-implantation genetic diagnosis (PGD) is a technique used in diagnosis, based on genetic analysis of an embryo obtained by in vitro fertilization (IVF) and subsequently transferred to genetically healthy viable embryos. Preconception genetic diagnosis is based on the genetic study of an ovule before fertilization and subsequent IVF of healthy ovules. The methodology is similar in both cases. Genetic study of FXS is especially difficult because of the large number of CGG repetitions in affected. Often indirect diagnosis has to be made. Both diagnoses have a series of evident advantages over prenatal diagnosis. There is no pregnancy present so the stress and emotional trauma of VIP (voluntary interruption of pregnancy) is avoided. However, it should be pointed out that there are technical drawbacks regarding genetic analysis and the need to resort to IVF in fertile couples.

Cytogenetic Analysis↗

U.S. Public Health Service Task Force recommendations for use of antiretroviral drugs in pregnant HIV-1-infected women for maternal health and interventions to reduce perinatal HIV-1 transmission in the United States.

These recommendations update the February 4,2002, guidelines developed by the Public Health Service for the use of zidovudine (ZDV) to reduce the risk for perinatal human immunodeficiency virus type 1 (HIV-1) transmission. This report provides healthcare providers with information for discussion with HIV-1-infected pregnant women to enable such women to make an informed decision regarding the use of antiretroviral drugs during pregnancy and use of elective cesarean delivery to reduce perinatal HIV-1 transmission. Various circumstances that commonly occur in clinical practice are presented, and the factors influencing treatment considerations are highlighted in this report. The Perinatal HIV Guidelines Working Group recognizes that strategies to prevent perinatal transmission and concepts related to management of HIV disease in pregnant women are rapidly evolving and will continually review new data and provide regular updates to the guidelines. The most recent information is available from the HIV/AIDS Treatment Information Service (available at http.//www.hivatis.org). In February 1994, the results of Pediatric AIDS Clinical Trials Group (PACTG) Protocol 076 documented that ZDV chemoprophylaxis could reduce perinatal HIV-1 transmission by nearly 70%. Epidemiologic data have since confirmed the efficacy of ZDV for reduction of perinatal transmission and have extended this efficacy to children of women with advanced disease, low CD4+ T-lymphocyte counts, and prior ZDV therapy. Additionally, substantial advances have been made in the understanding of the pathogenesis of HIV-1 infection and in the treatment and monitoring of persons with HIV-1 disease. These advances have resulted in changes in standard antiretroviral therapy for HIV-1-infected adults. More aggressive combination drug regimens that maximally suppress viral replication are now recommended. Although considerations associated with pregnancy may affect decisions regarding timing and choice of therapy pregnancy is not a reason to defer standard therapy. Use of antiretroviral drugs in pregnancy requires unique considerations, including the possible need to alter dosage as a result of physiologic changes associated with pregnancy the potential for adverse short- or long-term effects on the fetus and newborn, and the effectiveness of the drugs in reducing the risk for perinatal transmission. Data to address many of these considerations are not yet available. Therefore, offering antiretroviral therapy to HIV-1-infected women during pregnancy, whether primarily for HIV-1 infection, for reduction of perinatal transmission, or for both purposes, should be accompanied by a discussion of the known and unknown short- and long-term benefits and risks of such therapy to infected women and their infants. Standard antiretroviral therapy should be discussed with and offered to HIV-1-infected pregnant women. Additionally, to prevent perinatal transmission, ZDV chemoprophylaxis should be incorporated into the antiretroviral regimen.

Anti-HIV Agents↗