PREVENTION-OF-BIRTH-DEFECTS预防出生缺陷课件.ppt

1、PREVENTION OF DISORDERS OF CHILDREN BEFORE BIRTHPrevention of Disorders of Children Before BirthwPRIMARY PREVENTION-preventing the development of the problemwSecondary prevention-preventing the problem from causing disease,removing the causewTertiary prevention-preventing the problem from progressin

2、g and causing disabilityPrevention of Disorders of Children Before BirthwPrimary Prevention The plumber,the grocer,the politician,the doctor Maternal Nutrition Maternal Immunization Avoidance of environmental teratogens Maternal Disease Management Pre-implantation diagnosisPrevention of Disorders of

3、 Children Before BirthwSecondary prevention Pregnancy interruption after prenatal diagnosis Inutero medical management of maternal disorders Inutero surgical managementPrevention of Disorders of Children Before BirthwTertiary prevention identification of inborn errors of metabolism management of med

4、ical disorders surgical management of birth defects Primary PreventionwMaternal 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

5、 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 acidPrimary PreventionwMaternal Nutrition Folic Acid Reduction in non synd

6、romic 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,AlzheimersPrimary PreventionwMaternal Nut

7、rition Iodine-requirement of 20 microgram per day to prevent maternal iodine deficiency and cretinism in the fetus.100-200 microgram/dayrecommended for supplementation Zinc-15 mg/day suggested daily requirement-important in neural developmentPrimary PreventionwMaternal Immunization-prevention of pri

8、mary infection during pregnancy Rubella-cataracts,deafness,pulmonary stenosis,learning handicaps Varicella-1st trimester contractures,skin scars,limb reduction,mental retardation,seizures Mumps-congenital deafnessPrimary PreventionwAvoidance of teratogens Drugs-cocaine,alcohol,tobacco,toluene Medica

9、tions-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,PCBsPrimary PreventionwMaternal Disease Manage

10、ment 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 cardiomyopath

11、yPrimary 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 hypertens

12、ion,PIH,pre-eclampsia,eclampsia:may reflect placental diseasePrimary PreventionwPre-implantation Diagnosis-expensive and highly sophisticatedwSingle cell DNA amplification with PCR and diagnostic testing of specific genewKaryotype wImplantation of blastocysts found to be unaffectedSecondary Preventi

13、onwDiagnose maternal disorders and treatwMaternal triple marker screening for detection of neural tube defects,abdominal wall defects,nephrosis,Tri 21,Tri 18wUltrasound for structural abnormalitieswAmniocentesis to confirm chromosomal,DNA diagnosable,or metabolic conditionswTermination or management

14、Secondary Prevention wTest for maternal infections and treat with antibiotics,antiviral,antimalarial agents wMonitor for preterm labor and use corticosteroids for pulmonary maturation when premature delivery imminentSecondary PreventionwMaternal autoimmune disorders identify and treatRh isoimmunizat

15、ionPlatelet isoimmunizationAntiphospholipid antibodyGraves DiseaseMyasthenia GravisSecondary PreventionMaternal 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

16、 PreventionwMaternal Platelet Isoimmunization recognition after a prior affected infant Mother lack antigen,father is either homozygous or heterozygous for the antigen wFetus is antigen positive-inutero thrombocytopenia and bleedingwRx-maternal IVIG,?Fetal IVIGSecondary PreventionwAntiphospholipid a

17、ntibodies-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 IUGRSecondary PreventionwGraves Disease Thyrotoxicosis in the mother treatment of mother with PTU-1-5%of infants-hyp

18、othyroidismTransfer of thyroid stimulating immunoglobulin to the fetus-neonatal thyrotoxicosis-rx Lugols and beta blockerSecondary PreventionwMaternal Myasthenia GravisIgG against nicotinic acetylcholine receptorsrare joint contractures in the fetus or neonatal myasthenia 2-4 weeksAvoid magnesium su

19、lfateFollow mother post delivery Secondary PreventionwMaternal 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 forDown syndrome and trisomy 18 if increasedrisk option for ultrasound and amniocen

20、tesis Low estriol also for cholesterol metabolism defects and steroid sulfatase deficiencySecondary Prevention-surgical managementwRenal Obstruction-catheter placementwHydrothorax-laparoscopic catheter placementwInutero surgery for cystic adenomatoid malformationwLigation or cautery of placental shu

21、nts in monozygotic twinswCesarean section for maternal herpesTertiary PreventionwIdentification 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 sc

22、reening vitamin k at birth,immunizations after birthTertiary PreventionwNewborn screening Galactosemia-avoidance of galactose formulas amino/organic acid disorders-appropriate metabolic management-formulas,carnitine,vitamins when responsive,betaine hypothyroidism-synthroid others-fatty acid oxidatio

23、n defects-frequent feeds,avoid fasting Tertiary PreventionwSurgical 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 Recogniti

24、on of lethal disorders for which aggressive care is inappropriateFirst StepswIDENTIFY THE AREAS OF NEED-ESTABLISH REGISTRIESwMATERNAL IMMUNIZATIONwPRENATAL VITAMINS PRIOR TO CONCEPTION(by 8 weeks it has happened)wPRENATAL CARE OF MEDICAL PROBLEMSSection 2wMaintenance of Health Through Good Nutrition

25、ObjectiveswState the effect inadequate nutrition has on an infantwIdentify the ingredients used in infant formulaswDescribe when and how foods are introduced into the babys dietwDescribe inborn errors of metabolism and their dietary treatmentNutritional Requirements of the InfantwDuring the first ye

26、ar,the normal child needs about 100 kcal per kilogram of body weight each day.wInfants 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 InfantwIron-fortified cereal is

27、usually started at about 6 months.wA vitamin K supplement is routinely given shortly after birth.wInfants should not be given an excess of vitamin A or D.BreastfeedingwProvides infant with temporary immunity to many infectious diseases.wIt is economical,nutritionally adequate,and sterile.Breastfeedi

28、ngwEasily digestedwBreastfed infants grow more rapidly during the first few months of life than formula-fed babies and have fewer infections.BreastfeedingwBreast should be offered every 2 hours in the first few weeks.wThe infant should nurse 10-15min on each breast.wGrowth spurts occur at about 10 d

29、ays,2 weeks,6 weeks,and 3 months;infant may nurse more frequently.BreastfeedingwIndications 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 nursi

30、ng.Bottle FeedingwThe infant should be cuddled and held in an upright position.wHe should be burped.wFormulas are developed so that they are similar to human milk in nutrient and kcal values.wSynthetic milk made from soybeans may be used for sensitive or allergic infants.Burping a BabyBottle Feeding

31、wSterile water must be used to mix formula.wInfants under one year should not be given cows milk.wConsistent temperature should be used.wInfants should not be put to bed with bottle.Supplementary FoodswLimit diet to breast milk or formula until the age of 4 to 6 months.wCows milk should be avoided u

32、ntil after one year of age.wSolid foods should not be introduced before 4 to 6 months of age and should be done gradually.Supplementary FoodswThe typical order of introduction begins with cereal,usually iron-fortified rice,then oat,wheat,and mixed cereals.wCooked and pureed vegetables follow,then co

33、oked and pureed fruits,egg yolk,and finally,finely ground meats.Supplementary FoodswBetween 6 and 12 months,toast,zwieback,teething biscuits,custards,puddings,and ice cream can be added.wHoney should never be given to an infant because it could be contaminated with Clostridium botulinum bacteria.Sup

34、plementary FoodswWhen the infant learns to drink from a cup,juice can be introduced.wJuice should never be given from a bottle because babies will fill up on it and not get enough calories from other sources.Supplementary FoodswPasteurized apple juice is usually given first.wIt is recommended that o

35、nly 4 oz.of 100%juice products be given because they are nutrient-dense.Indications for Readiness for Solid FoodswAbility to pull food into the mouth rather than pushing the tongue and food out of the mouth.wWillingness to participate in the process.wAbility to sit up without support.Indications for

36、 Readiness for Solid FoodswHaving head and neck control.wThe need for additional nutrients.wDrinking more than 32 ounces of formula or nursing 8 to 10 times in 24 hours.Special Nutritional NeedswPremature infantswCystic FibrosiswFailure to thrivewMetabolic Disorders Galactosemia Phenylketonuria Mapl

37、e Syrup Urine DiseasePremature InfantswAn infant born before 37 weeks gestation.wThe sucking reflex is not developed until 34 weeks gestation.Infants born earlier will require total parenteral nutrition,tube feedings,or bolus feedings.Premature InfantswOther concerns include:low birth weight,underde

38、veloped lungs,immature GI tracts,inadequate bone mineralization,and lack of fat reserves.wMany special formulas are available.Cystic FibrosiswAn inherited disease wDecreased production of digestive enzymeswMalabsorption of fatwRecommendation:35-40%of diet should be from fatCystic FibrosiswDigestive

39、enzyme is taken in pill form.wThere 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.w Nighttime tube feedings may be indicated.Failure to ThrivewDetermined by plotting the height and weight of the inf

40、ant on the growth chart.wMay be caused by poverty,congenital abnormalities,AIDS,lack of bonding,child abuse,or neglect.wThe first six months are the most crucial for brain development.GalactosemiawA condition in which there is a lack of the liver enzyme transferase.wTransferase normally converts gal

41、actose to glucose.wThe amount of galactose in the blood becomes toxic.GalactosemiawDiarrhea,vomiting,edema,and abnormal liver functionwCataracts may develop,galactosuria occurs,and mental retardation develops.wDiet therapy:exclusion of anything containing milk from any mammal;nutritional supplements

42、 of calcium,vitamin D,and riboflavin.Phenylketonuria(PKU)wLack the liver enzyme phenylalanine hydroxylase,which is necessary for the metabolism of the amino acid phenylalanine.wInfants are normal at birth,but if untreated become hyperactive,suffer seizures,and become mentally retarded between 6 to 1

43、8 months.Phenylketonuria(PKU)wDiet Therapy:commercial formula“Lofenalac”,regular blood tests,synthetic milk for older children,avoidance of phenylalanine.wHospitals routinely screen newborns for PKU.Maple Syrup Urine Disease(MSUD)wCongenital defect resulting in the inability to metabolize three amin

44、o acids:leucine,isoleucine,and valine.wNamed for the odor of the urine of clients with the condition.Maple Syrup Urine Disease(MSUD)wHypoglycemia,apathy,and convulsions occur and if not treated promptly,will result in death.wDiet therapy:extremely restricted amounts of the three amino acids;a specia

45、l formula and low protein diet is used;diet therapy necessary throughout life.Women,Infants,and Children(WIC)wA 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.ConclusionwBabies must have adequate diets so that their physical and mental development are not impaired.wBreastfeeding is natures way of feeding an infant.wFormula feeding is also acceptable.wSome infants have special nutritional needs.