Items in AFP with MESH term: Prenatal Diagnosis

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Common Issues in the Care of Sick Neonates - Article

ABSTRACT: Newborn infants may be transferred to a special care nursery because of conditions such as prematurity (gestation less than 37 weeks), prolonged resuscitation, respiratory distress, cyanosis, and jaundice, and for evaluation of neonatal sepsis. Newborn infants' core temperature should be kept above 36.4 degrees C (97.5 degrees F). Nutritional requirements are usually 100 to 120 kcal per kg per day to achieve an average weight gain of 150 to 200 g (5 to 7 oz) per week. Standard infant formulas containing 20 kcal per mL and maternal breast milk may be inadequate for premature infants, who require special formulas or fortifiers that provide a higher calorie content (up to 24 kcal per mL). Intravenous fluids should be given when infants are not being fed enterally, such as those with tachypnea greater than 60 breaths per minute. Hypoglycemia can be asymptomatic in large-for-gestational-age infants and infants of mothers who have diabetes. A hyperoxia test can be used to differentiate between pulmonary and cardiac causes of hypoxemia. The potential for neonatal sepsis increases with the presence of risk factors such as prolonged rupture of membranes and maternal colonization with group B streptococcus. Jaundice, especially on the first day of life, should be evaluated and treated. If the infant does not progressively improve in the special care nursery, transfer to a tertiary care unit may be necessary.


Congenital Toxoplasmosis - Article

ABSTRACT: Approximately 85 percent of women of childbearing age in the United States are susceptible to acute infection with the protozoan parasite Toxoplasma gondii. Transmission of T. gondii to the fetus can result in serious health problems, including mental retardation, seizures, blindness, and death. Some health problems may not become apparent until the second or third decade of life. An estimated 400 to 4,000 cases of congenital toxoplasmosis occur in the United States each year. Serologic tests are used to diagnose acute T. gondii infection in pregnant women. Because false-positive tests occur frequently, serologic diagnosis must be confirmed at a Toxoplasma reference laboratory before treatment with potentially toxic drugs is considered. In many instances, congenital toxoplasmosis can be prevented by educating pregnant women and other women of childbearing age about not ingesting raw or undercooked meat, using measures to avoid cross-contamination of other foods with raw or undercooked meat, and protecting themselves against exposure to cat litter or contaminated soil.


Intrauterine Growth Retardation - Article

ABSTRACT: Intrauterine growth retardation (IUGR), which is defined as less than 10 percent of predicted fetal weight for gestational age, may result in significant fetal morbidity and mortality if not properly diagnosed. The condition is most commonly caused by inadequate maternal-fetal circulation, with a resultant decrease in fetal growth. Less common causes include intrauterine infections such as cytomegalovirus and rubella, and congenital anomalies such as trisomy 21 and trisomy 18. When IUGR is recognized, it is important to attempt to correct reversible causes, although many of the conditions responsible for IUGR are not amenable to antenatal therapy. Close fetal surveillance with delivery before 38 weeks of gestation is usually recommended. Some infants born with IUGR have cognitive and medical problems, although for most infants the long-term prognosis is good.


Down Syndrome: Prenatal Risk Assessment and Diagnosis - Article

ABSTRACT: Down syndrome (trisomy 21) is the most commonly recognized genetic cause of mental retardation. The risk of trisomy 21 is directly related to maternal age. All forms of prenatal testing for Down syndrome must be voluntary. A nondirective approach should be used when presenting patients with options for prenatal screening and diagnostic testing. Patients who will be 35 years or older on their due date should be offered chorionic villus sampling or second-trimester amniocentesis. Women younger than 35 years should be offered maternal serum screening at 16 to 18 weeks of gestation. The maternal serum markers used to screen for trisomy 21 are alpha-fetoprotein, unconjugated estriol and human chorionic gonadotropin. The use of ultrasound to estimate gestational age improves the sensitivity and specificity of maternal serum screening.


Maternal Serum Triple Analyte Screening in Pregnancy - Article

ABSTRACT: According to the American College of Obstetricians and Gynecologists, it has become standard in prenatal care to offer screening tests for neural tube defects and genetic abnormalities. There have been some changes in the recommended method of prenatal screening over the past few years, and research to improve detection rates with better combinations of maternal serum analytes is ongoing. The issues facing physicians are the sensitivity and specificity of multiple serum analyte combinations. The current maternal serum analytes in use in most areas are alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG) and unconjugated estriol. Measurement of AFP alone can detect the vast majority of neural tube defects and a small portion of trisomy 21-affected pregnancies in patients of all ages. Adding hCG and unconjugated estriol to this screen increases the rate of detection of trisomies 21 and 18. Counseling patients about the risks and benefits of such screening is important to provide a balanced discussion of screening issues.


Fetal Chromosomal Abnormalities: Antenatal Screening and Diagnosis - Article

ABSTRACT: Pregnant women of all ages should be offered screening and invasive diagnostic testing for chromosomal abnormalities before 20 weeks' gestation. New developments in screening methods have increased the number of options for patients. Diagnostic options include chorionic villus sampling in the first trimester and amniocentesis in the second trimester. Screening options in the first trimester include nuchal translucency testing in combination with measurement of pregnancy-associated plasma protein A and human chorionic gonadotropin. Nuchal translucency testing alone is not as effective. Screening options in the second trimester include serum screening using triple or quadruple screening, and ultrasonography. Patients may also choose a combination of first- and second-trimester screening in an integrated, stepwise sequential, or contingent sequential fashion. These options include an analysis of pregnancy-associated plasma protein A, with or without nuchal translucency testing, in combination with quadruple screening. An integrated test with nuchal translucency testing is the most effective method for women who present in the first trimester. If nuchal translucency testing is unavailable, the maternal serum-integrated test is safest and most effective. For women who do not present until the second trimester, the quadruple screen is recommended. Comprehensive counseling should be available to all pregnant women. Specific screening tests will depend on availability of the procedure and patient preference.


Perinatal HIV Testing - Editorials


Caring for Pregnant Women and Newborns with Hepatitis B or C - Article

ABSTRACT: Family physicians encounter diagnostic and treatment issues when caring for pregnant women with hepatitis B or C and their newborns. When hepatitis B virus is perinatally acquired, an infant has approximately a 90 percent chance of becoming a chronic carrier and, when chronically infected, has a 15 to 25 percent risk of dying in adulthood from cirrhosis or liver cancer. However, early identification and prophylaxis is 85 to 95 percent effective in reducing the acquisition of perinatal infection. Communication among members of the health care team is important to ensure proper preventive techniques are implemented, and standing hospital orders for hepatitis B testing and prophylaxis can reduce missed opportunities for prevention. All pregnant women should be screened for hepatitis B as part of their routine prenatal evaluation; those with ongoing risk factors should be evaluated again when in labor. Infants of mothers who are positive for hepatitis B surface antigen should receive hepatitis B immune globulin and hepatitis B vaccination within 12 hours of birth, and other infants should receive hepatitis B vaccination before hospital dis- charge. There are no effective measures for preventing perinatal hepatitis C transmission, but transmission rates are less than 10 percent. Perinatally acquired hepatitis C can be diagnosed by detecting hepatitis C virus RNA on two separate occasions between two and six months of age, or by detecting hepatitis C virus antibodies after 15 months of age.


Clinical Briefs - Clinical Briefs


Maternal Serum Triple Analyte Screening in Pregnancy - Editorials


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