《PREVENTION-OF-BIRTH-DEFECTS预防出生缺陷课件.ppt》由会员分享，可在线阅读，更多相关《PREVENTION-OF-BIRTH-DEFECTS预防出生缺陷课件.ppt（59页珍藏版）》请在三一办公上搜索。
1、PREVENTION OF DISORDERS OF CHILDREN BEFORE BIRTH,PREVENTION OF DISORDERS OF CHI,Prevention of Disorders of Children Before Birth,PRIMARY PREVENTION - preventing the development of the problemSecondary prevention - preventing the problem from causing disease, removing the causeTertiary prevention - p
2、reventing the problem from progressing and causing disability,Prevention of Disorders of Chi,Prevention of Disorders of Children Before Birth,Primary Prevention The plumber, the grocer, the politician, the doctorMaternal NutritionMaternal ImmunizationAvoidance of environmental teratogensMaternal Dis
3、ease ManagementPre-implantation diagnosis,Prevention of Disorders of Chi,Prevention of Disorders of Children Before Birth,Secondary preventionPregnancy interruption after prenatal diagnosisInutero medical management of maternal disordersInutero surgical management,Prevention of Disorders of Chi,Prev
4、ention of Disorders of Children Before Birth,Tertiary preventionidentification of inborn errors of metabolismmanagement of medical disorderssurgical management of birth defects,Prevention of Disorders of Chi,Primary Prevention,Maternal nutritionFolic Acid 400 micrograms per dayneural tube defects 19
5、65 Hibbard and SmithellsNorthern China 6 per 1000 live births with NTDBerry et al. NEJM 341:1485, 1999 130,142 women who took folic acid117,689 women who did not take folic acid1/1000 NTD affected in the North with folic acid4.8/1000 NTD affected in the North without folic acid 0.6/1000 NTD affected
6、 in the South with folic acid1/1000 NTD affected in the South without folic acid,Primary PreventionMaternal nut,Primary Prevention,Maternal NutritionFolic AcidReduction in non syndromic cleft lip/palate more controversialReduction in cardiovascular malformations especially outflow tract malformation
7、s Decreased incidence of urinary tract abnormalityDecreased risk of imperforate anus in China RR .59adult benefits - cardiovascular, cancer, Alzheimers,Primary PreventionMaternal Nut,Primary Prevention,Maternal NutritionIodine - requirement of 20 microgram per day to prevent maternal iodine deficien
8、cy and cretinism in the fetus. 100-200 microgram/dayrecommended for supplementationZinc - 15 mg/day suggested daily requirement - important in neural development,Primary PreventionMaternal Nut,Primary Prevention,Maternal Immunization - prevention of primary infection during pregnancyRubella - catara
9、cts, deafness, pulmonary stenosis, learning handicapsVaricella - 1st trimester contractures, skin scars, limb reduction, mental retardation, seizuresMumps - congenital deafness,Primary PreventionMaternal Imm,Primary Prevention,Avoidance of teratogensDrugs - cocaine, alcohol, tobacco, tolueneMedicati
10、ons - accutane, seizure medications, ACE inhibitors, coumadin, aminopterin, methotrexate, penicillamine, misoprostol, thalidomideViruses - cytomegalovirus, parvo B19, HIVSyphilis, toxoplasmosis, malariaIonizing radiation, lead (tofu protective), organic methylmercury, PCBs,Primary PreventionAvoidanc
11、e of,Primary Prevention,Maternal Disease ManagementDiabetes 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 riskRisk for single and multip
12、le malformations and overgrowth with cardiomyopathy,Primary PreventionMaternal Dis,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 mic
13、rograms in preg.), synthroid treatment for hypothyroidism Hypertension - Chronic hypertension, PIH, pre-eclampsia, eclampsia: may reflect placental disease,Primary PreventionPhenylketonu,Primary Prevention,Pre-implantation Diagnosis - expensive and highly sophisticatedSingle cell DNA amplification w
14、ith PCR and diagnostic testing of specific geneKaryotype Implantation of blastocysts found to be unaffected,Primary PreventionPre-implanta,Secondary Prevention,Diagnose maternal disorders and treatMaternal triple marker screening for detection of neural tube defects, abdominal wall defects, nephrosi
15、s, Tri 21, Tri 18Ultrasound for structural abnormalitiesAmniocentesis to confirm chromosomal, DNA diagnosable, or metabolic conditionsTermination or management,Secondary PreventionDiagnose m,Secondary Prevention,Test for maternal infections and treat with antibiotics, antiviral, antimalarial agents
16、Monitor for preterm labor and use corticosteroids for pulmonary maturation when premature delivery imminent,Secondary Prevention Test for,Secondary Prevention,Maternal autoimmune disorders identify and treatRh isoimmunizationPlatelet isoimmunizationAntiphospholipid antibodyGraves DiseaseMyasthenia G
17、ravis,Secondary PreventionMaternal a,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 PreventionMaternal R,Secondary Prevention,
18、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 bleedingRx - maternal IVIG, ? Fetal IVIG,Secondary PreventionMaternal P,Secondary Prev
19、ention,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 PreventionAntiphosph,Secondary Prevention,Graves Disease Thyrotoxicosis
20、in the mother treatment of mother with PTU - 1-5% of infants - hypothyroidismTransfer of thyroid stimulating immunoglobulin to the fetus - neonatal thyrotoxicosis -rx Lugols and beta blocker,Secondary PreventionGraves Dis,Secondary Prevention,Maternal Myasthenia GravisIgG against nicotinic acetylcho
21、line receptorsrare joint contractures in the fetus or neonatal myasthenia 2-4 weeksAvoid magnesium sulfateFollow mother post delivery,Secondary PreventionMaternal M,Secondary Prevention,Maternal Serum Screening AFP - open body defects = neural tube defects, gastroschisis, limb-body wall - offer ultr
22、asound and amnioEstriol and HCG along with AFP for risk forDown syndrome and trisomy 18 if increasedrisk option for ultrasound and amniocentesisLow estriol also for cholesterol metabolism defects and steroid sulfatase deficiency,Secondary PreventionMaternal S,Secondary Prevention - surgical manageme
23、nt,Renal Obstruction - catheter placementHydrothorax -laparoscopic catheter placementInutero surgery for cystic adenomatoid malformationLigation or cautery of placental shunts in monozygotic twinsCesarean section for maternal herpes,Secondary Prevention - surgica,Tertiary Prevention,Identification a
24、nd management of medical disordersPhysical Examination - minor and major malformations - further studies as appropriateScreening for inborn errors of metabolism, thyroid functionAudiology testing/vision screening vitamin k at birth, immunizations after birth,Tertiary PreventionIdentificat,Tertiary P
25、revention,Newborn screeningGalactosemia - avoidance of galactose formulasamino/organic acid disorders - appropriate metabolic management - formulas, carnitine, vitamins when responsive, betainehypothyroidism - synthroidothers - fatty acid oxidation defects - frequent feeds, avoid fasting,Tertiary Pr
26、eventionNewborn scr,Tertiary Prevention,Surgical management of birth defectsNeural Tube defects - repair of defect, ventricular shuntingCleft lip/palate - repair of cleft, management of middle ear diseaseCongenital Heart defects - medical management until surgery is availableRecognition of lethal di
27、sorders for which aggressive care is inappropriate,Tertiary PreventionSurgical ma,First Steps,IDENTIFY THE AREAS OF NEED - ESTABLISH REGISTRIESMATERNAL IMMUNIZATIONPRENATAL VITAMINS PRIOR TO CONCEPTION (by 8 weeks it has happened)PRENATAL CARE OF MEDICAL PROBLEMS,First StepsIDENTIFY THE AREAS,Sectio
28、n 2,Maintenance of Health Through Good Nutrition,Section 2Maintenance of Health,Objectives,State the effect inadequate nutrition has on an infantIdentify the ingredients used in infant formulasDescribe when and how foods are introduced into the babys dietDescribe inborn errors of metabolism and thei
29、r dietary treatment,ObjectivesState the effect ina,Nutritional Requirements of the Infant,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 hav
30、e 1.56 g of protein per kg of weight each day.,Nutritional Requirements of th,Nutritional Requirements of the Infant,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.,Nutri
31、tional Requirements of th,Breastfeeding,Provides infant with temporary immunity to many infectious diseases.It is economical, nutritionally adequate, and sterile.,BreastfeedingProvides infant w,Breastfeeding,Easily digestedBreastfed infants grow more rapidly during the first few months of life than
32、formula-fed babies and have fewer infections.,BreastfeedingEasily digested,Breastfeeding,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 frequentl
33、y.,BreastfeedingBreast should be,Breastfeeding,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.,BreastfeedingIndications of a
34、d,Bottle Feeding,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.,Bottle FeedingThe infant shoul,
35、Burping a Baby,Burping a Baby,Bottle Feeding,Sterile water must be used to mix formula.Infants under one year should not be given cows milk.Consistent temperature should be used.Infants should not be put to bed with bottle.,Bottle FeedingSterile water mu,Supplementary Foods,Limit diet to breast milk
36、 or formula until the age of 4 to 6 months.Cows 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 FoodsLimit diet,Supplementary Foods,The typical order of introduction begins with cereal, us
37、ually 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 FoodsThe typical,Supplementary Foods,Between 6 and 12 months, toast, zwieback, teething biscuits, custards, pudd
38、ings, and ice cream can be added.Honey should never be given to an infant because it could be contaminated with Clostridium botulinum bacteria.,Supplementary FoodsBetween 6 a,Supplementary Foods,When the infant learns to drink from a cup, juice can be introduced.Juice should never be given from a bo
39、ttle because babies will fill up on it and not get enough calories from other sources.,Supplementary FoodsWhen the in,Supplementary Foods,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.,Supplementary Fo
40、odsPasteurized,Indications for Readiness for Solid Foods,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,Indications for Readiness for Solid Foods,H
41、aving 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.,Indications for Readiness for,Special Nutritional Needs,Premature infantsCystic FibrosisFailure to thriveMetabolic DisordersGalactosemiaPhenylketonuriaMaple Syr
42、up Urine Disease,Special Nutritional NeedsPrema,Premature Infants,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 InfantsAn infant bor,Prem
43、ature Infants,Other concerns include: low birth weight, underdeveloped lungs, immature GI tracts, inadequate bone mineralization, and lack of fat reserves.Many special formulas are available.,Premature InfantsOther concern,Cystic Fibrosis,An inherited disease Decreased production of digestive enzyme
44、sMalabsorption of fatRecommendation: 35-40% of diet should be from fat,Cystic FibrosisAn inherited di,Cystic Fibrosis,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-solubl
45、e vitamins. Nighttime tube feedings may be indicated.,Cystic FibrosisDigestive enzym,Failure to Thrive,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 month
46、s are the most crucial for brain development.,Failure to ThriveDetermined by,Galactosemia,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.,GalactosemiaA condition in whi,Galacto
47、semia,Diarrhea, vomiting, edema, and abnormal liver functionCataracts 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.,GalactosemiaDiarrhea, vomiting,P
48、henylketonuria (PKU),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)Lac
49、k the,Phenylketonuria (PKU),Diet Therapy: commercial formula “Lofenalac”, regular blood tests, synthetic milk for older children, avoidance of phenylalanine.Hospitals routinely screen newborns for PKU.,Phenylketonuria (PKU)Diet Ther,Maple Syrup Urine Disease (MSUD),Congenital defect resulting in the
50、 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 (MSU,Maple Syrup Urine Disease (MSUD),Hypoglycemia, apathy, and convulsions occur and if not treated promptly, will result in death.Die
