The review discusses the principles of genetic counseling and genetic screening. Disorders amenable to genetic screening and prenatal diagnosis are also enumerated. Salient principles of the genetic counseling process are described. A variety of molecular diagnostic tests are available to determine whether an individual or fetus has inherited a disease-causing gene mutation. It can identify other family members or relatives at risk for the disorder or at risk for being a carrier. The gift of life can be "perfect" even in the presence of serious problems.Read More

The physiologic, biochemical, and anatomic changes that occur during pregnancy are extensive and may be systemic or local. However, most systems return to pre-pregnancy status between the time of delivery and 6 weeks postpartum. Major adaptation in maternal anatomy, physiology, and metabolism are required for a successful pregnancy. Hormonal changes, initiated before conception, significantly alter maternal physiology, and persist through both pregnancy and initial postpartum period. A full understanding of physiologic changes is necessary to differentiate between normal alterations and those that are abnormal. This document describes maternal adaptations in pregnancy. An understanding of the normal physiologic changes and values induced by pregnancy is essential in understanding coincidental disease processes. Many laboratory values are dramatically altered from non-pregnant values. We hope this provides a valuable tool to manage your patients effectively.Read More

Ectopic pregnancy is a condition in which an early embryo (fertilized egg) implants outside the normal site for implantation (uterus). The purpose of the document is to diagnose early, and to understand conservative medical and surgical treatments that are now widely available for ectopic pregnancies. Methotrexate, a folinic acid antagonist, has been used to treat patients with small unruptured tubal pregnancies. Evidence, including risks benefits, about methotrexate as an alternative treatment for selected ectopic pregnancy is also discussed. Early detection may make it possible for some patients to receive medical therapy instead of surgery.Read More

Female genital cutting (FGC) is the collective name given to traditional practices that involve partial or total cutting away of the female external genitalia whether for cultural or other non-therapeutic reasons. These beliefs and practices can damage the health of both mother and child in various ways. FGC, for instance, leads to scarification and later complications in childbirth. Female genital cutting/mutilation has no known health benefits. On the contrary, it is known to be harmful to girls and women in many ways. First and foremost, it is painful and traumatic. The removal of or damage to healthy, normal genital tissue interferes with the natural functioning of the body and causes several immediate and long-term health consequences. Babies born to women who have undergone female genital mutilation suffer a higher rate of neonatal death compared with babies born to women who have not undergone the procedure. Girls have the right to grow to womanhood without harm to their bodies. We know what has to be done to abandon this harmful practice, strong support from governments encouraging communities and individuals to make the healthiest choices possible for girls will save lives and greatly benefit families and communities.Read More

Neural tube defects (NTDs) are congenital structural abnormalities of the brain and vertebral column that occur either as an isolated malformation, along with other malformations, or as a part of genetic syndrome. The purpose of this document is to review prenatal screening, diagnosis that are widely available and prenatal therapy is being investigated. Neural tube defects (NTDs) are among the few birth defects for which primary prevention is possible. Yet identification of selected anomalies, such as ventriculomegaly and spina bifida, remains a challenge in many cases. Anencephaly accounts for one half of all cases of NTDs and is incompatible with life; with treatment, 80-90% of infants with spina bifida survive with varying degrees of disability. In this chapter, the sonographic investigation, screening for NTDs and role of folic acid are also reviewed.Read More

Premature rupture of the fetal membranes (PROM) is one of the most common and controversial problems facing the obstetric clinician. The fetal membranes and the amniotic fluid that they encase have functions that are critical for normal fetal protection, growth, and development. The purpose of this document is to review the current understanding of premature rupture of membranes (PROM) and to provide management guidelines that have been validated by appropriately conducted outcome-based research. There is some controversy over the optimal approaches to clinical assessment and treatment of women with term and preterm PROM. Management hinges on knowledge of gestational age and evaluation of the relative risks of preterm birth versus infection, abruptio placentae, and cord accident that could occur with expectant management. The risk factors, diagnosis, and management of PROM are discussed here. Additional guidelines on the basis of consensus and expert opinion also are included.Read More

The promotion of breastfeeding is an ongoing priority of the Women's Health and Education Center (WHEC). The purpose of this document is to promote breastfeeding and work with national and international organizations dedicated to promoting the health of infants worldwide to formulate guidelines for breastfeeding. Where breastfeeding practices are suboptimal, simple one-encounter antenatal education and counseling significantly improve breastfeeding practice up to 3 months after delivery. Healthcare providers should make every effort to have at least one face-to-face encounter to discuss breastfeeding with expectant mothers before they deliver. Human milk provides developmental, nutritional, and immunologic benefits to the infant that cannot be duplicated by formula feeding.Read More

The purpose of this document is to understand immunization during pregnancy. Immunization saves lives and prevents disease. There are many national resources available to help you fine-tune your vaccination practices. If you have not yet incorporated vaccination into your practices, now would be a great time to start. Immunizations are considered one of the major medical achievements of the 20th century. However, inadequate vaccination remains an important public health problem. This document reflects emerging clinical and scientific advances and current information on the safety of vaccines given during pregnancy. The benefits of immunization to the pregnant woman and her neonate usually outweigh the theoretic risk of adverse effects. The theoretic risks of the vaccination of pregnant women with killed virus vaccines have not been identified. Preconceptional immunization of women to prevent disease in the offspring, when practical, is preferred to vaccination of pregnant women with certain vaccines.Read More

There have always been differing approaches, even controversies with regard to the role of food intake during pregnancy. Traditional beliefs from a wide variety of cultures present divergent approaches. At present, nutritional care during pregnancy is based on the following general premises: women are encouraged to eat a variety of foods "to appetite", to achieve adequate weight gain as determined by their pre-pregnancy body mass index, and to breast-feed their infants after birth. Nutritional problems can be found in women of every socioeconomic status and range from an inability to acquire and prepare food to eating disorders. If the women cannot afford a sufficient supply of food, she should be referred to food pantries and soup kitchens in her area. All low-income women should receive information about the Special Supplemental Food Program for Women, Infants and Children (WIC) and food stamp program. All WIC programs have nutritionists who are required to counsel patients on these matters. Poor weight gain also may reflect substance abuse, domestic violence, or depression.Read More

Hypertensive disease occurs in approximately 12-22% of pregnancies, and it is directly responsible for 17.6% of maternal deaths in the United States. However, there is confusion about the terminology and classification of these disorders. We hope to provide guidelines for the diagnosis and management of hypertensive disorders unique to pregnancy (preeclampsia and eclampsia), as well as the various associated complications. The purpose this document is to provide guidelines for the diagnosis and management of hypertensive disorders unique to pregnancy -- preeclampsia and eclampsia. Various associated complications are also discussed. Expectant management should be considered for women remote from term who have mild preeclampsia. For the prevention and treatment of seizures in women with severe preeclampsia or eclampsia magnesium sulfate is the drug of choice. Practitioners should be aware that various laboratory tests may be useful in the management of women with preeclampsia. The differential diagnosis is also discussed. It is important that clinician make the accurate diagnosis when possible because the management and complications from these syndromes may be different.Read More