PREVENTION OF BIRTH DEFECTS by keara

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									PREVENTION OF DISORDERS OF CHILDREN BEFORE BIRTH

Prevention of Disorders of Children Before Birth
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PRIMARY PREVENTION - preventing the development of the problem Secondary prevention - preventing the problem from causing disease, removing the cause Tertiary prevention - preventing the problem from progressing and causing disability

Prevention of Disorders of Children Before Birth
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Primary Prevention
• The plumber, the grocer, the politician, the doctor • Maternal Nutrition • Maternal Immunization • Avoidance of environmental teratogens • Maternal Disease Management • Pre-implantation diagnosis

Prevention of Disorders of Children Before Birth
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Secondary prevention
• Pregnancy interruption after prenatal diagnosis • Inutero medical management of maternal disorders • Inutero surgical management

Prevention of Disorders of Children Before Birth
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Tertiary prevention
• identification of inborn errors of metabolism • management of medical disorders • surgical management of birth defects

Primary Prevention
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Maternal nutrition
• Folic Acid 400 micrograms per day
• neural tube defects 1965 Hibbard and Smithells • Northern China 6 per 1000 live births with NTD • Berry et al. NEJM 341:1485, 1999
– – – – – – 130,142 women who took folic acid 117,689 women who did not take folic acid 1/1000 NTD affected in the North with folic acid 4.8/1000 NTD affected in the North without folic acid 0.6/1000 NTD affected in the South with folic acid 1/1000 NTD affected in the South without folic acid

Primary Prevention
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Maternal Nutrition
• Folic Acid
• Reduction in non syndromic cleft lip/palate more controversial • Reduction in cardiovascular malformations especially outflow tract malformations • Decreased incidence of urinary tract abnormality • Decreased risk of imperforate anus in China RR .59 • adult benefits - cardiovascular, cancer, Alzheimers

Primary Prevention
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Maternal Nutrition
• Iodine - requirement of >20 microgram per day to prevent maternal iodine deficiency and cretinism in the fetus. 100-200 microgram/day recommended for supplementation • Zinc - 15 mg/day suggested daily requirement important in neural development

Primary Prevention
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Maternal Immunization - prevention of primary infection during pregnancy
• Rubella - cataracts, deafness, pulmonary stenosis, learning handicaps • Varicella - 1st trimester contractures, skin scars, limb reduction, mental retardation, seizures • Mumps - congenital deafness

Primary Prevention
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Avoidance of teratogens
• Drugs - cocaine, alcohol, tobacco, toluene • Medications - accutane, seizure medications, ACE inhibitors, coumadin, aminopterin, methotrexate, penicillamine, misoprostol, thalidomide • Viruses - cytomegalovirus, parvo B19, HIV • Syphilis, toxoplasmosis, malaria • Ionizing radiation, lead (tofu protective), organic methylmercury, PCBs

Primary Prevention
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Maternal Disease Management
• Diabetes Mellitus - establish control prior to pregnancy as well as during the pregnancy • with preconceptural care 2% birth defects risk, lowered with addition of folic acid • without preconceptual care 6-7% birth defects risk • Risk for single and multiple malformations and overgrowth with cardiomyopathy

Primary Prevention
• Phenylketonuria - fetal brain and heart defects maternal diet to keep phenylalanine level below 20 mg/dL • Hypothyroidism - fetal brain development iodine supplementation in endemic areas (RDA 175 micrograms in preg.), synthroid treatment for hypothyroidism • Hypertension - Chronic hypertension, PIH, pre-eclampsia, eclampsia: may reflect placental disease

Primary Prevention
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Pre-implantation Diagnosis expensive and highly sophisticated Single cell DNA amplification with PCR and diagnostic testing of specific gene Karyotype Implantation of blastocysts found to be unaffected

Secondary Prevention
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Diagnose maternal disorders and treat Maternal triple marker screening for detection of neural tube defects, abdominal wall defects, nephrosis, Tri 21, Tri 18 Ultrasound for structural abnormalities Amniocentesis to confirm chromosomal, DNA diagnosable, or metabolic conditions Termination or management

Secondary Prevention
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Test for maternal infections and treat with antibiotics, antiviral, antimalarial agents Monitor for preterm labor and use corticosteroids for pulmonary maturation when premature delivery imminent

Secondary Prevention
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Maternal autoimmune disorders identify and treat Rh isoimmunization Platelet isoimmunization Antiphospholipid antibody Graves Disease Myasthenia Gravis

Secondary Prevention
• Maternal Rh Isoimmunization
Prevention by identifying couples at risk and using Rhogam post delivery. For sensitized women, amniocentesis to monitor the fetus and transfuse when appropriate

Secondary Prevention
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Maternal Platelet Isoimmunization recognition after a prior affected infant Mother lack antigen, father is either homozygous or heterozygous for the antigen Fetus is antigen positive -> inutero thrombocytopenia and bleeding Rx - maternal IVIG, ? Fetal IVIG

Secondary Prevention
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Antiphospholipid antibodies Anticardiolipin/ lupus anticoagulant Maternal history of recurrent fetal loss aspirin and heparin (in women with a history of repeated fetal loss)increase in preterm birth and IUGR

Secondary Prevention
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Graves Disease Thyrotoxicosis in the mother treatment of mother with PTU 1-5% of infants -> hypothyroidism Transfer of thyroid stimulating immunoglobulin to the fetus - > neonatal thyrotoxicosis -rx Lugol’s and beta blocker

Secondary Prevention
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Maternal Myasthenia Gravis IgG against nicotinic acetylcholine receptors rare joint contractures in the fetus or neonatal myasthenia 2-4 weeks Avoid magnesium sulfate Follow mother post delivery

Secondary Prevention
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Maternal Serum Screening AFP - open body defects = neural tube
defects, gastroschisis, limb-body wall - offer ultrasound and amnio • Estriol and HCG along with AFP for risk for Down syndrome and trisomy 18 if increased risk option for ultrasound and amniocentesis • Low estriol also for cholesterol metabolism defects and steroid sulfatase deficiency

Secondary Prevention - surgical management
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Renal Obstruction - catheter placement Hydrothorax -laparoscopic catheter placement Inutero surgery for cystic adenomatoid malformation Ligation or cautery of placental shunts in monozygotic twins Cesarean section for maternal herpes

Tertiary Prevention
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Identification and management of medical disorders
• Physical Examination - minor and major malformations - further studies as appropriate • Screening for inborn errors of metabolism, thyroid function • Audiology testing/vision screening • vitamin k at birth, immunizations after birth

Tertiary Prevention
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Newborn screening
• Galactosemia - avoidance of galactose formulas • amino/organic acid disorders - appropriate metabolic management - formulas, carnitine, vitamins when responsive, betaine • hypothyroidism - synthroid • others - fatty acid oxidation defects - frequent feeds, avoid fasting

Tertiary Prevention
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Surgical management of birth defects
• Neural Tube defects - repair of defect, ventricular shunting • Cleft lip/palate - repair of cleft, management of middle ear disease • Congenital Heart defects - medical management until surgery is available • Recognition of lethal disorders for which aggressive care is inappropriate

First Steps
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IDENTIFY THE AREAS OF NEED ESTABLISH REGISTRIES MATERNAL IMMUNIZATION PRENATAL VITAMINS PRIOR TO CONCEPTION (by 8 weeks it has happened) PRENATAL CARE OF MEDICAL PROBLEMS

Section 2
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Maintenance of Health Through Good Nutrition

Objectives
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State the effect inadequate nutrition has on an infant Identify the ingredients used in infant formulas Describe when and how foods are introduced into the baby’s diet Describe inborn errors of metabolism and their dietary treatment

Nutritional Requirements of the Infant
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During the first year, the normal child needs about 100 kcal per kilogram of body weight each day. Infants up to 6 months of age should have 2.2 g of protein per kg of weight each day; age 6-12 months should have 1.56 g of protein per kg of weight each day.

Nutritional Requirements of the Infant
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Iron-fortified cereal is usually started at about 6 months. A vitamin K supplement is routinely given shortly after birth. Infants should not be given an excess of vitamin A or D.

Breastfeeding
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Provides infant with temporary immunity to many infectious diseases. It is economical, nutritionally adequate, and sterile.

Breastfeeding
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Easily digested Breastfed infants grow more rapidly during the first few months of life than formula-fed babies and have fewer infections.

Breastfeeding
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Breast should be offered every 2 hours in the first few weeks. The infant should nurse 10-15min on each breast. Growth spurts occur at about 10 days, 2 weeks, 6 weeks, and 3 months; infant may nurse more frequently.

Breastfeeding
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Indications of adequate nutrition include:
• The infant has six or more wet diapers per day. • The infant has normal growth. • The infant has one or two mustard-colored bowel movements per day. • The breast becomes soft during nursing.

Bottle Feeding
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The infant should be cuddled and held in an upright position. He should be burped. Formulas are developed so that they are similar to human milk in nutrient and kcal values. Synthetic milk made from soybeans may be used for sensitive or allergic infants.

Burping a Baby

Bottle Feeding
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Sterile water must be used to mix formula. Infants under one year should not be given cow’s milk. Consistent temperature should be used. Infants should not be put to bed with bottle.

Supplementary Foods
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Limit diet to breast milk or formula until the age of 4 to 6 months. Cow’s milk should be avoided until after one year of age. Solid foods should not be introduced before 4 to 6 months of age and should be done gradually.

Supplementary Foods
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The typical order of introduction begins with cereal, usually iron-fortified rice, then oat, wheat, and mixed cereals. Cooked and pureed vegetables follow, then cooked and pureed fruits, egg yolk, and finally, finely ground meats.

Supplementary Foods
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Between 6 and 12 months, toast, zwieback, teething biscuits, custards, puddings, and ice cream can be added. Honey should never be given to an infant because it could be contaminated with Clostridium botulinum bacteria.

Supplementary Foods
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When the infant learns to drink from a cup, juice can be introduced. Juice should never be given from a bottle because babies will fill up on it and not get enough calories from other sources.

Supplementary Foods
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Pasteurized apple juice is usually given first. It is recommended that only 4 oz. of 100% juice products be given because they are nutrient-dense.

Indications for Readiness for Solid Foods
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Ability to pull food into the mouth rather than pushing the tongue and food out of the mouth. Willingness to participate in the process. Ability to sit up without support.

Indications for Readiness for Solid Foods
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Having head and neck control. The need for additional nutrients. Drinking more than 32 ounces of formula or nursing 8 to 10 times in 24 hours.

Special Nutritional Needs
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Premature infants Cystic Fibrosis Failure to thrive Metabolic Disorders
• Galactosemia • Phenylketonuria • Maple Syrup Urine Disease

Premature Infants
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An infant born before 37 weeks gestation. The sucking reflex is not developed until 34 weeks gestation. Infants born earlier will require total parenteral nutrition, tube feedings, or bolus feedings.

Premature Infants
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Other concerns include: low birth weight, underdeveloped lungs, immature GI tracts, inadequate bone mineralization, and lack of fat reserves. Many special formulas are available.

Cystic Fibrosis
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An inherited disease Decreased production of digestive enzymes Malabsorption of fat Recommendation: 35-40% of diet should be from fat

Cystic Fibrosis
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Digestive enzyme is taken in pill form. There is a water-soluble form of fat-soluble vitamins that can be administered if normal levels cannot be maintained with the use of fat-soluble vitamins. Nighttime tube feedings may be indicated.

Failure to Thrive
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Determined by plotting the height and weight of the infant on the growth chart. May be caused by poverty, congenital abnormalities, AIDS, lack of bonding, child abuse, or neglect. The first six months are the most crucial for brain development.

Galactosemia
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A condition in which there is a lack of the liver enzyme transferase. Transferase normally converts galactose to glucose. The amount of galactose in the blood becomes toxic.

Galactosemia
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Diarrhea, vomiting, edema, and abnormal liver function Cataracts may develop, galactosuria occurs, and mental retardation develops. Diet therapy: exclusion of anything containing milk from any mammal; nutritional supplements of calcium, vitamin D, and riboflavin.

Phenylketonuria (PKU)
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Lack the liver enzyme phenylalanine hydroxylase, which is necessary for the metabolism of the amino acid phenylalanine. Infants are normal at birth, but if untreated become hyperactive, suffer seizures, and become mentally retarded between 6 to 18 months.

Phenylketonuria (PKU)
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Diet Therapy: commercial formula “Lofenalac”, regular blood tests, synthetic milk for older children, avoidance of phenylalanine. Hospitals routinely screen newborns for PKU.

Maple Syrup Urine Disease (MSUD)
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Congenital defect resulting in the inability to metabolize three amino acids: leucine, isoleucine, and valine. Named for the odor of the urine of clients with the condition.

Maple Syrup Urine Disease (MSUD)
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Hypoglycemia, apathy, and convulsions occur and if not treated promptly, will result in death. Diet therapy: extremely restricted amounts of the three amino acids; a special formula and low protein diet is used; diet therapy necessary throughout life.

Women, Infants, and Children (WIC)
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federally funded program that provides monthly food packages of infant formula or milk, cereal, eggs, cheese, peanut butter, and juice for a mother who is breastfeeding.

Conclusion
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Babies must have adequate diets so that their physical and mental development are not impaired. Breastfeeding is nature’s way of feeding an infant. Formula feeding is also acceptable. Some infants have special nutritional needs.


								
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