EDUCATION & DEBATE

What proportion ofcongenital abnormalities can be prevented?

Andrew E Czeizel, Zsolt Intody, Bernadette Modell

AbstractObjective-To estimate the proportion of pre-

ventable congenital abnormalities in Hungary.Design-Analysis of available Hungarian data-

bases and ofthe effectiveness ofprimary, secondary,and tertiary preventive methods.Setting-Databases of ad hoc epidemiological

studies and ofthe Hungarian congenital abnormalityregistry.Main outcome measures-Prevalence at birth

and prevalence after prevention in 73 congenitalabnormality types or groups.Results-Preventive methods are available for

51 (70%) of the 73 congenital abnormality typesor groups evaluated. The birth prevalence of allcongenital abnormalities could be reduced from65 to 26 per 1000; thus 39 per 1000 (60%) arepreventable. Without congenital dislocation of thehip, which is unusually common in Hungary, thepreventable proportion of congenital abnormalitiesis 52%.Conclusion-Many congenital abnormalities can

be prevented, but as they do not represent a singlepathological category there is no single strategy fortheir prevention.

IntroductionIn countries where the infant mortality is low, a large

proportion of residual infant deaths are due to con-genital anomalies (defined as "structural-morphological,functional and/or biochemical-molecular defectspresent at birth").' Further reduction of infantmortality and chronic handicap depends increasinglyon prevention of such disorders. The largest group ofcongenital anomalies are congenital abnormalities (ormalformations), defined as structural defects present atbirth, whether detected at that time or not. Wecollected data on the birth prevalence of congenitalabnormalities in Hungary, where the Hungariancongenital abnormality registry provides a long-standing information resource.

Congenital abnormalities can be divided into threegroups: lethal if the developmental defect causesstillbirth or infant death in more than 50% of cases;severe if without medical intervention the congenitalabnormality causes handicap or death; mild if thecongenital abnormality requires medical interventionbut life expectancy is good. Lethal and severe defectstogether constitute major congenital abnormalities.Minor anomalies or morphological variants withoutserious medical or cosmetic consequences2 are excludedfrom this discussion.

Preventive approaches are often classified as primary(avoiding the abnormality arising in the first place),secondary (early detection and medical treatment, orselective abortion), or tertiary (surgical correction).A congenital abnormality is considered corrected whenearly paediatric surgery results in there being practi-cally no residual defect, or no or minimal after effects.

We used the Hungarian congenital abnormalityregistry and other collected data to estimate theproportion of congenital abnormalities that are, or canbe, prevented by all these approaches when used to thebest level of practice currently found in Hungary.

MethodsOver the past 20 years the National Institute of

Hygiene has collected information on the prevalence atbirth of congenital abnormalities in Hungary usingthree different approaches.

Firstly, in the 1 970s and '80s ad hoc epidemiologicalstudies were used for all of the common ( 1/10 000)'and most of the moderately common congenitalabnormalities. All institutions providing paediatriccare or paediatric surgery were visited, and the recordsof all cases in the study period were reviewed. Caseswere ascertained and the validity of the diagnoses waschecked.

Secondly, since 1970 the Hungarian congenitalabnormality registry has kept a record of all stillbomand livebom infants with a congenital abnormality de-tected before the age of 1 year in Hungary.3 Physiciansmust report children with congenital abnormalities.The registry has four main sources of information:practically all deliveries take place in hospital, andobstetricians report congenital abnormalities diagnosedat birth; paediatricians report malformed babies seenat inpatient and outpatient paediatric clinics; necropsyis obligatory in case of infant death and when theinfant has a congenital abnormality pathologistssend the autopsy report to the Hungarian congenitalabnormality registry; the five prenatal diagnosiscentres report congenital abnormalities in fetusesaborted after prenatal diagnosis of fetal defect-alldiagnoses are checked, and abnormalities are classifiedas either isolated or multiple because of their differentaetiologies.

In the 1980s our work concentrated on multiplecongenital abnormalities.4 Babies or fetuses withtwo or more different congenital abnormalities wereconsidered as multimalformed. Complex congenitalabnormalities within the same organ (for example,tetralogy of Fallot) or sequences (for example, spinabifida cystica with hydrocephalus and clubfoot,or diaphragmatic defect with lung hypoplasia anddextrocardia) were classified as isolated. Inheriteddisorders such as cystic fibrosis and functionalanomalies such as mental retardation were excluded,but phenylketonuria, galactosaemia, and congenitalhypothyroidism were included because they areroutinely detected by neonatal screening in Hungaryand they may manifest as a congenital abnormality (forexample, microcephaly, cataract, umbilical hemia).The unit of evaluation was affected children ratherthan individual corn4entabnormnalities.The birth preval nmoderately common

and rare congenital 4sn included in thead hoc epidemiol *e *termined from

BMJ VOLUME 306 20 FEBRUARY 1993

Department ofHumanGenetics and Teratology,National Institute ofHygiene, WHOCollaborating Centre forthe Community Control ofHereditary Diseases,Budapest, HungaryAndrew E Czeizel, medicalgeneticistZsolt Int6dy, gynaecologist

Department ofObstetricsand Gynaecology,University College andMiddlesex School ofMedicine, UniversityCollege London, WHOCollaborating Centre forthe Community Control ofHereditary Diseases,LondonWC1E 6HXBemadette Modell,Weilcome principal researchfellow

Correspondence to:Dr A E Czeizel, OKI 1966Gyali iit 2-6, Hungary.

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TABLE i-Prevalence of 73 congenital abnormalities in Hungary

BirthTotal prevalence Reference

ICD code Description births Cases per 1000 SD No

Isolated congenital abnormnalitiesAnencephalySpina bifida cysticaEncephaloceleMicrocephalyHoloprosencephalyCongenital hydrocephalyOther congenital abnormalities of

nervous systemAnophthalmos or microphthalmosBuphthalmosCongenital cataractOther congenital abnormalities of eyeCongenital abnormalities of earBranchial cleft including hydrops fetalisOther congenital abnormalities of faceand neck

Common truncusTransposition of the great vesselsTetralogy of FallotVentricular septal defectAtrial septal defectCongenital aortic stenosisHypoplastic left heartPatent ductus arteriosusCoarctation ofthe aortaCongenital abnormalities ofpulmonary

arteryComplex cardiovascular congenital

abnormalitiesOther cardiovascular congenital

abnormalitiesCongenital abnormalities of respiratory

systemCleft palateCleft lip with or without cleft palateRobin sequence

Oesophageal atresia/stenosisCongenital hypertrophic pyloric

stenosisIntestinal (small) atresia or stenosisRectal or anal atresia or stenosisHirschprung's diseaseOther congenital abnormalities of

digestive systemUndescended testis (after third month)HypospadiasOther congenital abnormalities of

genital organsRenal agenesis or dysgenesisCystic kidney, type I-IIObstructive congenital abnormalities of

urinary systemOther congenital abnormalities of

urinary systemTorticollisCongenital dislocation of hipVarus, valgus and other deformities of

feetOther deformitiesPolydactylySyndactylyReduction abnormalities of limbsOther congenital abnormalities of limbsOther congenital abnormalities of

skeletal systemCongenital abnormalities ofdiaphragmCongenital abnormalities ofabdominal

wallOther congenital abnormalities of

muscle, etcCongenital abnormalities of integumentOther isolated congenital abnormalitiesCongenital inguinal hemia

94 80794 80794 807

1 188 529481 03094 807

481 0301 328 0341 328 0341 328 034481 030498 505490 658

498 50552 56952 56952 5695 6445 644

58 21358 21358 21358 213

58 213

58 213

58 213

481 030110 229110 229

2 245 312222 009

108 966455 568222 009

2 127 352

510 35310 20310 203

463 415222 009

1 537 205

4 463 415

498 50510 203

106 943

481 030510 353510 353484 891

1 575 904498 505

481 030222 009

222 009

510 353490 658473 04386 710

9814719

2614872

1011331461593416047

2591519115

46145531

36

55

161

135114462239

1647341234

3833723

5650

215

176

1309

1455

142923515312655545

31335

44

4637361

957

Multiple congenital abnormaliniesDown's syndrome 247 101 321Patau'ssyndrome 1 388 525 152Edward's syndrome 1 388 525 181Other chromosomal syndromes 1 388 525 403Phenylketonuria 1 388 525 167Galactosaemia 1 388 525 28Congenital hypothyroidism 1 388 525 319Monogenic syndromes 1 388 525 472Fetal alcohol syndrome 175 001 35Fetal rubella syndrome 1 388 525 694Other teratogenic syndromes 1 388 525 417

Congenital postural deformitysyndrome 1 188 529 475

Schisis association 1 367 681 130Other associations 1 388 525 375Unidentified multiple congenital

abnormalities 1 388 525 2833

1 031 550 200-220 100 76

0 210 100 110 120 070-320 1

0-050-170 290 361 950 890 790 240 940 53

0-62

0 94

2 76

0 281 030 420 100 18

1 510 160-180 11

0 753 632-25

0 120 230 14

0 38

0 260 8813 61

2 970 460 300 260 350 05

0 650 16

0 20

0 090 760-13

11 04

59 06

1 170 110 130 290 120-020 230 340 200 500 30

0400 090 27

2 04

6 21

0 1040 1280-0460 0140 0140 090

0 0210 0090 0090 0090 01200250 014

0 0100 0570 0740 0830 5880 3960 1170 0640 1270 096

0 103

0 127

0 218

0-0240-0620-0970 0020 028

0 1180 0190 0290 007

0 0380 5960 470

0 0160 0320 010

0 029

0 0230 2940 357

0 0790 0300 0240 02300 150 013

0 0370 027

0-030

0-0130 0390 0170 357

0 0350 0090*0100 0140 0090-0040 0130-0160-0340 01900 15

1,21,21,2341

45

554

44

46

66

2, 77

6, 76, 76, 76, 7

6, 7

6,7

6, 7

48,98, 91011

2, 124

1113

42, 142, 15

41116

4

417

2, 18, 19, 20

2,21444

224

411

11

444

23

24, 2525252525252525

25, 262525

0 018 25, 270 008 25, 280 014 25

0-038 25

65.27

the database of the Hungarian congenital abnormalityregister. Possible underascertainment has beencarefully analysed, and a questionnaire was sent toparents, or those affected were invited with theirfamilies for a personal examination to check thediagnoses and to obtain necessary data.

Thirdly, for the remainder, the birth prevalence ofrare or heterogeneous congenital abnormality groupswas based on the Hungarian congenital abnormalityregistry 1977-81.4 We used the averages of the highestthree annual birth prevalences to reduce under-ascertainment.The proportions of cases in the whole database in

the three groups were 78-7%, 8-3%, and 13/0%,respectively. These estimates assume no significant"spontaneous" decrease or increase with time and nosignificant regional differences in the birth prevalenceof congenital abnormalities. This is in fact the case forthe great majority of congenital abnormalities inHungary.3 The data on which the calculations arebased are summarised in table I.The total prevalence of congenital abnormalities (N)

was calculated per 1000 informative pregnancies(n)-that is, live births and stillbirths plus terminationsof affected fetuses diagnosed prenatally. In theory,the variability of the prevalence figures could beestimated by calculating the standard deviationeither on the basis of observed annual figures withinthe study period or from a Poisson distribution[N/n ± VN/n] x 1000, but we could calculate onlyfrom the Poisson distribution because with currentpreventive practice recent annual prevalence figureswere not available.The severity of congenital abnormalities has been

evaluated previously from the Hungarian congenitalabnormality registry database 1977-81.5 Estimatesof the effectiveness of preventive approaches for73 congenital abnormality entities were based on datafrom the registry, epidemiological studies (such as forneural tube defect4 and Down's syndrome5), studies ofthe effects of, for example, genetic counselling inreducing further conceptions in families at risk,6avoidance of alcohol and other teratogens duringpregnancy,7 and early paediatric surgery in congenitalhypertrophic pyloric stenosis, congenital inguinalhemia, ventricular septal defect, etc.' The approximateeffectiveness of preventive methods was calculatedusing the formula N*/n x 100, where N* is the pro-portion of preventable congenital abnormalities.Prevalence of each congenital abnormality entity afterprevention was calculated from the birth prevalenceand the percentage effectiveness of prevention. Finallythe figures were related to type of preventive approach.As the standard deviations of the prevalence after

prevention (the last column in table II) were derivedfrom different study populations and study periods, weused the following calculation:

mn= Eni/N

where m is the number of congenital abnormalityentities and ni is the sample size. The corrected sum ofthe number of cases with congenital abnormalities wascalculated as

N=m

Nini=} ni

where Ni is the number of cases with congenitalabnormalities out of ni births.

ResultsIn Hungary the birth prevalence of all congenital

abnormality entities was about 65 per 1000 births

BMJ VOLUME 306 20 FEBRUARY 1993

740741742.0742.1742.2742.3742.4-9

743.0-1743.2743.3743.4-9744.0-3744.4744.5-9

745.0745.1745.2745.3-4745.5746.3746.7747.0747.1747.3

747.7

747.9

748

749.0749.1-2749.3750.3750.5

751.1751.2751.3750.2, 4, 6-9

751.0, 4-9752.5752.6752.0-4, 8-9

753.0753.1753.2, 6

753.3-5, 7-9

754.1754.3754.5-7

754.0, 2,4, 8755.0755.1755.2-4755.5-6756.0-3

756.6756.7

756.8-9

757759.0-3550

Subtotal

758.0758.1758.2758.3-9270.1271.1243759.6760.8771.0759.7

769.8

759.88759.89759.9

Subtotal

Total

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TABLE ii-Proportions ofcongenital abnormalities preventable by primary, secondary, and tertiary methods

Prevalence (SD) per 1000 births

Main approaches Congenital abnormalities At birth After prevention Preventable

Primary preventionGenetic counselling and reduction of conception Familial Mendelian abnormalities such as 0-91 (0-027) 0-83 (0 026) 9

anophthalmos or microphthalmos, some congenitalabnormalities ofeye and ear, Robin sequence,monogenic syndromes (1/4)

Pre- and postconceptional care of affected (diabetic, Other teratogenic syndromes (1/10) 0 03 (0 005) 0-01 (0 003) 67etc) mothers

Avoidance ofteratogens (mainly rubella virus and 0-97 (0-031) 0-28 (0-017) 71alcohol*) during pregnancy

Total 1-91 (0-041) 1-12 (0-031) 41

Secondary preventionPrenatal chromosomal exam by CVS or Down's syndrome 1-41 (0 037) 0-89 (0 030) 37

amniocentesis in mothers over 35 and matemal Patau's syndromeAFP, HCG, oestriol screening Edward's syndrome

Prenatal chromosomal exam by CVS or Other chromosomal syndromes (1/1O) 0 03 (0 005) 0 02 (0 004) 33amniocentesis in parents with balanced structuralaberrations

Matemal AFP screening and ultrasonography Neural tube defect 3-08 (0-091) 0 55 (0-038) 82Congenital abnormalities of abdominal wallSchisis association

Ultrasonography Lethal congenital abnormalities: holoprosencephaly, 7 40 (0-111) 5-02 (0-091) 32congenital hydrocephaly, hydrops fetalis, commontruncus, hypoplastic left heart, complexcardiovascular abnormalities, bilateral renalagenesis, cystic kidney, abnormalities ofdiaphragm

Some severe congenital abnormalities: microcephaly,other abnormalities ofnervous system, oesophagealatresia, obstructive abnormalities of urinarysystem, severe abnormalities of respiratory andskeletal system, very severe limb reductiondeficiencies, other associations, multipleabnormalities

Neonatal screening Phenylketonuria 0 37 (0-016) 0 100GalactosaemiaCongenital hypothyroidism

Neonatal orthopaedic screening ofdeformations Congenital dislocation ofhip 18-34 (0 200) 2-90 (0 080) 84TorticollisVarus, valgusOther deformities

Specific posmatal treatment Patent ductus arteriosus (1/3) 3-94 (0-340) 2-48 (0 270) 38Undescended testis

Total 34-57 (0-232) 11-86 (0-136) 66

Early paediatric surgery Ventricular septal defectAtrial septal defect type IIPatent ductus arteriosus (2/3)Congenital hypertrophic pyloric stenosisCongenital inguinal hemia

Total 16-02 (0 549) 0-33 (0 080) 98

Total 52 49 (0-275) 13-31 (0-138) 75

Abnormalities not preventable (for example, cleft 12-83 (0-167) 12-84 (0-167)palate, hypospadias)

Grand total 65-32 (0-330) 26-15 (0 209) 60

Excluding congenital dislocation of hip 51-71(0-292) 25 06(0 203) 52

*Birth prevalence of congenital rubella syndrome = 0-20/1000; fetal alcohol syndrome 0-70/1000 in Hungary.CVS = chorionic villus sampling, AFP = a fetoprotein, HCG = human chorionic gonadotrophin.

TABLE III-Proportions ofpreventable congenital abnormalities in lethal, severe, and mild groups

Prevalence (SD) Prevalence % Ofper % Of after prevention preventable

Severity 1000 births congenital abnormalities per 1000 congenital abnormalities

Lethal 6-15 (0 10) 9 2-38 (0-07) 61Severe 19-30 (0-17) 30 13-98 (0-14) 28Mild 39-87 (0-31) 61 9-78 (0-15) 75

Total 65-32 (0 33) 100 26 15 (0 21) 60

(table I). All figures corresponded closely to wellestablished figures for Europe and North America,8except for potential congenital dislocation of the hip,which is unusually common in Hungary and probablyin other central and eastem European countries.' Thebirth prevalence of congenital dislocation of the hipwas about 1/1000 in westem Europe and NorthAmerica, but a significant (threefold to ninefold)increase was recorded after early orthopaedic screeningwas introduced.Table II summarises possible preventive methods.

Some preventive methods overlap but only one wasconsidered for each congenital abnormality entity. Weincluded genetic counselling alone, for familial cases

when no prenatal diagnosis is available, among primarypreventive approaches. Seven groups of secondarypreventive approaches are listed. These includetreatable congenital abnormalities (such as anal atresia)that may be diagnosed prenatally but for whichtermination of pregnancy is not indicated becauseeffective treatment is available. Prenatal diagnosisoften improves the management of such cases byallowing the baby to be delivered at the best time andplace for appropriate surgery. We treated orthopaedicscreening as a distinct category because some neonataldeformations (such as congenital dislocation of thehip) represent only a predisposition to congenitalabnormality, and surgery is avoided by conservativetreatment. We classified specific medical treatmentsthat mimic physiological processes (human chorionicgonadotrophin for undescended testis and indo-methacin for patent ductus arteriosus) as secondaryprevention. Tertiary prevention consists of paediatricsurgery. Only congenital abnormalities in which thereare no after effects or these are minimal and there is noneed for further medical care after surgery are included.Table II shows that preventive methods are available

for 51 (70%) of 73 congenital abnormality entitiesevaluated, and their effective application could

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..^......... :..i,:........':.r.*. ;~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~. ''.'-... ''- .....Checking for residual defects inthe authors'clinic in Budapest theoretically reduce the birth prevalence of all

congenital abnormalities by 60% (from 65/1000 to26/1000). When congenital dislocation of the hip isexcluded the figure is 52% (from 52/1000 to 25/1000).Primary and secondary prevention could in principlereduce the birth prevalence of congenital abnormalitiesby about 36%, from 65/1000 to 42/1000, the greaterpart of the effect being due to secondary prevention. Socalled tertiary prevention-paediatric surgery-canprovide an almost 100% effective solution in at leastanother 25% of cases.Table III shows the birth prevalence, proportions,

and proportion preventable of lethal, severe, and mildcongenital abnormalities. About 39% of the total-25/1000 births are major congenital abnormalities.Preventive methods are most effective for mild, andleast effective for severe, congenital abnormalities.

DiscussionAs far as we know, this is the first detailed attempt to

estimate the proportion of congenital abnormalitiesthat are preventable. A realistic analysis of currentHungarian data shows that preventive methods arecurrently available for 70% of congenital abnormality(malformation) entities, and 60% of these develop-mental defects are preventable. With the exception ofcongenital dislocation of the hip, the Hungarian birthprevalences for congenital abnormalities resemblethose of other areas where there is careful recording.'0Hungarian figures excluding congenital dislocation ofthe hip (51 7/1000, of which 5/2% might be prevented)may be more appropriate for comparison with westemEurope and North America. Future estimates willprobably prove more reliable and have more predictivevalue.The analysis includes two sets of population based

data. Birth prevalences without prevention are realfigures observed in ad hoc epidemiological surveysor in the database of the Hungarian congenital ab-normality registry, as are birth prevalences afterprevention involving selective abortion or neonatalscreening. On the other hand, the proportions ofcongenital abnormalities preventable by secondary andtertiary methods are estimates based on researchstudies of particular conditions (for example, ad hocepidemiological studies for measuring the effectivenessof neonatal orthopaedic screening), or regions (forexample, those having excellent ultrasound scanningand trained staff for diagnosing structural defects, orusing the triple test for detection of Down's syndrome)

or of expert groups (for example, specific postnataltreatment and early paediatric surgery). The estimatesfor the effect of primary preventive approaches aretheoretical calculations based on our previous papers.8 9

PREVENTIVE APPROACHES

The contribution of primary prevention is smalland limited mainly to avoiding single gene defects,teratogens (by rubella vaccination, for example) andteratogenic effects of maternal disorders. Heterozygotescreening and DNA probes will permit more effectiveprevention of genetic disorders in the future, andpericonceptional multivitamin or folate supplementa-tion will be advantageous in primary prevention ofneural tube defects.'102Among methods for secondary prevention, prenatal

screening, especially ultrasonography, is particularlyeffective, though obviously abortion of a seriouslymalformed fetus is a last resort rather than an optimalsolution. Informed parents have to choose the lesser oftwo evils, and usually choose to prevent the birth of theaffected fetus, but the decision can sometimes be verydifficult. There may be uncertainties in interpreting anultrasound picture; the prognosis of the abnormalitydetected is not always known; and in some groups ofdefects, such as oesophageal atresia or obstructivedefects of urinary system, it is not always clear whetherthe defect is so severe as to justify abortion or whethersurgery might be successful. It is often said that mostcongenital abnormalities are untreatable, but thisoverlooks the great contribution of tertiary prevention,3and surgical techniques are constantly improving.The figures in this report are based on the best

current Hungarian practice. Recent reports suggestingthat 70-80% of severe congenital abnormalities may bedetected by routine fetal anomaly scanning by trainednon-medical operators with modern equipment"3would considerably increase the proportion of pre-ventable congenital abnormalities. It is also possibleto increase the effectiveness of other forms of prenatalscreening. For example, it is estimated that about60% of Down's syndrome and other trisomic syn-dromes can be detected using the triple test (maternalserum a fetoprotein, unconjugated oestriol, andhuman chorionic gonadotrophin, combined withmaternal age).4 15 Though neonatal screening forhypothyroidism, phenylketonuria, and galactosaemiais very effective, its contribution is limited. Neonatalorthopaedic screening is particularly important inHungary, where congenital dislocation of the hip is thecommonest congenital abnormality.As many congenital abnormalities can be prevented,

these developmental defects should not be consideredan irreducible component of perinatal mortality.However, as they vary so greatly in cause and coursethere is no single strategy for prevention. The efficacyof prevention could be improved considerably bypromoting widespread use of the approaches that arenow available, but this will require further supportfrom public health authorities for periconceptionalcare and screening programmes. The Hungarianexample shows that each country represents a specialsituation with its specific problems, pattern of con-genital abnormalities, resources, and needs.The authors will supply, on request, the database of birth

prevalences of different congenital abnormality entities andtheir references; the database of 73 congenital abnormalityentities that was the basis of this calculation; and the data ofcongenital abnormality entities within different preventiveapproaches.

1 Czeizel A, TusnAdy G. Aetiological studies of isolated common congenitalabnormalities in Hungary. Budapest: Akademiai Konyvkiado, 1984.

2 Mehes K. Minor malformations in neonates. Budapest: Akadeniai Konyvkiado,1983.

3 Czeizel A. The activities of the Hungarian Centre for Congenital AnomalyControl. World Health Stat Q 1988;41:219-27.

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4 Kalmar Zs, Czeizel A. The analysis of preventive programme of neural tubedefects. OrvosiHetilap 1980;: 1205-12. (In Hungarian.)

5 Beres J, Czeizel A. The frequency of prenatal chromosome analysis in pregnantwomen over 40 in Hungary. OrvosiHetilap 1988;129:529. (In Hungarian.)

6 Czeizel A, Metneki J, Osztovics M. Evaluation of information-guidancegenetic counselling..Med Genet 1981;18:91-8.

7 Czeizel A, M6eneki J. Evaluation of counselling for pregnant women exposedto potentially hazardous environmental factors. Acta Paediat Hung1985;26:175-86.

8 Congenital malformations worldwide: a report from the International Clearinghousefor Birth Defects Monitoring Systems. Amsterdam: Elsevier, 199 1.

9 Woolf CM, Koehn JH, Coleman SS. Congenital hip disease in Utah: theinfluence ofgenetic and nongenetic factor. AmJ Hum Genet 1968;20:430-9.

10 Smithells RW, Sheppard S, Wild J, Schorah CJ. Prevention of neural tubedefect recurrences in Yorkshire: final report. Lancet 1989;ii:498-9.

11 MRC Vitamin Study Research Group. Prevention of neural tube defects: resultofthe MRC vitamin study. Lancet 1991;338:131-7.

12 Czeizel A. Prevention of the first occurrence of neural tube defect. Results ofthe Hungarian randomised controlled trial of periconceptional multivitaminsupplementation. NEnglYMed 1992;327:1832-5.

13 Luck CA. Value of routine ultrasound scanning at 19 weeks: a four year studyof 8849 deliveries. BMJ 1992;304:1474-6.

14 Sheldon TA, Simpson J. Appraisal of a new scheme for prenatal screening forDown's syndrome. BMJ 1991;302:1133-6.

15 Wald NJ, Kennard A, Densem JW, Cuckle HS, Chard T, Butler L. Antenatalmatemal serum screening for Down's syndrome: results of a demonstrationproject. BMJ 1992;305:391-4.

(Accepted 30 October 1992)

University College LondonMedical School,Whittington Hospital,London N19 SNFAndy Haines, professor ofprmary health care

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Health care in Brazil

Andy Haines

Brazil has great geopolitical importance because ofits size, environmental resources, and potentialeconomic power. The organisation of its health caresystem reflects the schisms within Brazilian society.High technology private care is available to the richand inadequate public care to the poor. Limitedfinancial resources have been overconcentrated onhealth care in the hospital sector and healthprofessionals are generally inappropriately trainedto meet the needs of the community. However,recent changes in the organisation ofhealth care aretaking power away from federal government to stateand local authorities. This should help the process ofreform, but many vested interests remain to beovercome. A link programme between Britainand Brazil focusing on primary care has resultedin exchange of ideas and staff between the twocountries. Ifprimary care in Brazil can be improvedit could help to narrow the health divide between richand poor.

Brazil has often been in the news because of theimpeachment of President Collor, the Rio conference,widespread concern about environmental issues' andviolence, including the murder of street children, and,most recently, prisoners in Sao Paulo.2 Much less hasbeen written about the organisation of health care inthe country. Brazil is a country of contrasts. These areexemplified in the health sector by gleaming tertiarycare and research institutes in major cities such as SaoPaulo and poorly equipped or absent health posts in the

_ _ I_ j _.j...~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~.....

Comwit helt I6 inP vrtoAkr

ubiquitous shanty towns (favelas). Brazil has a heavyburden of intemational debt, which is a major con-tributor to its economic and health problems,' butwealth is also characterised by striking intemaldivisions. The top 20% of the population have 26 timesthe income of the bottom 20%, one of the largestdifferentials in the world.4 The statistics given in thetable illustrate some of the schisms in Brazilian society.

Comparison of health and wealth in Brazil with other countries withmedium human development'

Average formedium* humandevelopment

Year Brazil countries

Infant mortality (per 1000 live births) 1990 6040Under 5 mortality (per 1000 live

births) 1990 83 55% Of children immunised at 1 year 1988-90 83 89% Ofmothers breast feeding at 1 year 1980-90 34 45% Ofchildren under 5 underweight 1980-90 7 20Matemal mortality (per 100 000 live

births) 1988 230 170Population per doctor 1984 1080 1500Population per nurse 1984 1210 1540Public expenditure on health (% ofGNP) 1987 1-7 1-5

% Completing primary education 1988 20 74Tertiary education enrolment

rate (%) 1988-9 1 1 6Public expenditure on education(%GNP) 1989 3-7 3-8

Televisions per 1000 people 1988-9 204 64GNP per capita (US$) 1989 2500 924

GNP = gross national product.*Defined as a country which has a human development index (HDI) of0 500-0-799. The index is a measure of development devised by the UNDevelopment Programme. It includes three key components: longevity,knowledge (audit literacy and mean years of schooling), and income. Theseare combined in a three step process to form an average deprivation indexwith a maximum value of 1-0.

The death rates in infants and children under 5 arehigher than in countries of equivalent development.The number of televisions per 1000 people is threetimes higher. Although the ratio of doctors to nurses ishigh most ofthe population have poor medical facilities.

Organisation ofhealth careUntil 1987, there were entrenched divisions in the

organisation of health care. Curative treatment andmedical care were the responsibility of the socialsecurity ministry agency Instituto Nacional deAssistencia Medica Previdencia Social. Care wasprovided by units run by the agency and accreditedprivate services. Preventive activities and communic-able diseases were the responsibility of the healthminister and state health secretariats, which ran healthcentres, public health laboratories, and hospitalsspecialising in transmissible diseases. In 1988 Brazil

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MJ: first published as 10.1136/bm

j.306.6876.499 on 20 February 1993. D

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