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REPORT OF THEBIRTH DEFECTS REGISTRY OF

WESTERN AUSTRALIA

1980-2005

October 2006

ISSN 1322-7947

REPORT OF THE

BIRTH DEFECTS REGISTRY OF WESTERN AUSTRALIA

1980 - 2005

Carol Bower MBBS, MSc, PhD, FAFPHM, DLSHTMEdwina Rudy RN

Aandra Ryan RN, RM (deceased)Peter Cosgrove, BSc

Ann Callaghan RN, RM, BN (Hons)

October 2006

King Edward Memorial Hospital

Number 13

WESTERN AUSTRALIAN BIRTH DEFECTS REGISTRY

King Edward Memorial Hospital Phone Number: (08) 9340 2735374 Bagot Road Fax Number: (08) 9340 2636SUBIACO WA 6008

STAFFClinical Professor Carol Bower Medical SpecialistMs Edwina Rudy Research AssistantMrs Aandra Ryan (deceased) Research AssistantMS Ann Callaghan Research Assistant

COMPUTER PROGRAMMERMr Peter Cosgrove

ADVISORY COMMITTEE:Dr Adrian Charles (Chair)Assoc Prof Jan DickinsonDr Athel HockeyMr Colin KikirosDr Barry LewisMs Linda MacdonaldDr Ashleigh MurchDr Peter O’LearyDr Bev PettersonDr Jane ValentineDr Ian Walpole

SPECIALIST ADVISERS TO REGISTRY :Dr Lewis Blennerhassett, Plastic SurgeryDr Elizabeth Davis, EndocrinologyMr Harvey Coates, ENTDr Ian Hewitt, NephrologyDr Richard Hill, GastroenterologyDr Athel Hockey, Chromosome and Genetic DisordersMr Don Johnston, OrthopaedicsMr Colin Kikiros, General Paediatric SurgeryProfessor Lou Landau, Respiratory MedicineDr Geoff Lam, OphthalmologyDr Barry Lewis, Inborn Errors of MetabolismDr Jim Ramsay, CardiologyDr Ian Walpole, Congenital Infections and Clinical GeneticsDr Peter Walsh, Neurology

TABLE OF CONTENTS

TRIBUTE to Aandra Ryan.........................................................................................2

FOREWORD by Dr Ashleigh Murch..........................................................................3

SUMMARY................................................................................................................4

INTRODUCTION.......................................................................................................5

ROUTINE STATISTICS ............................................................................................6

DEMOGRAPHIC INFORMATION .............................................................................7

DIAGNOSTIC INFORMATION..................................................................................9

DEATHS..................................................................................................................18

NOTIFICATIONS ....................................................................................................19

REGISTRY ACTIVITIES .........................................................................................20

PUBLICATIONS......................................................................................................23

REPORTS...............................................................................................................30

GUIDELINES FOR CONFIDENTIALITY .................................................................33

EXCLUSION LIST...................................................................................................34

ACKNOWLEDGEMENTS

Our thanks to all the notifiers who have supplied the information on which this reportis based. The completeness and accuracy of the data are heavily dependent ontheir collaboration.

We are grateful to Mrs Vivien Gee, Coordinator of the Midwives' Notification SystemDepartment of Health, for providing the denominator data, and to Rob Maris,Department of Health for the hospital morbidity data. Our thanks also to staff inInformation Systems, Women’s and Children’s Health Service, for their assistance.

We gratefully acknowledge the support and collaboration of our colleagues atPrincess Margaret Hospital, the Telethon Institute for Child Health Research and,especially, at King Edward Memorial Hospital.

Our thanks also to the specialist advisers to the Registry, and to the members of ourAdvisory Committee, for their support.

2

AANDRA RYAN

Late last year, when Aandra learnt that her melanoma had spread, she constructed

a list of all the Registry tasks she wanted to complete and she set to work on them in

her typically systematic way. During a short stay in hospital, she updated coding

sheets and, between radiotherapy and chemotherapy appointments, it was business

as usual at the BDR office for Aandra.

The disease was not kind to Aandra – she really didn’t take a trick and it progressed

much faster than any of us had expected. It was therefore with relief and great joy

to us all that Ann Callaghan, a colleague of Aandra’s from many years ago, was

available to join the team in early 2006. Aandra’s corporate knowledge of the

Registry was long and prodigious – she had been working here for over 15 years –

and she and Edwina set to work to bring Ann up to speed in record time.

One thing that truly surprised Aandra (but not us) was how kind, supportive, caring

and concerned her work colleagues were when they learnt she was ill. She was

such a quiet achiever, perhaps she never really thought that people took much

notice of her – how wrong she was! Aandra was meticulous in her work, paying

great attention to the detail and confidentiality so necessary for a high quality data

collection. These attributes, along with her own kind, supportive, caring and

concerned manner, engendered great trust and warm rapport amongst staff in both

the public and private health sectors with whom she worked.

We are indebted to Aandra for her conscientious commitment to the Birth Defects

Registry and we profoundly miss her sunny presence and her wicked sense of

humour.

3FOREWORD

I am honoured and pleased to have the opportunity to provide a foreword for this annualreport of the Births Defect Registry of Western Australia. I have had a direct associationwith the Registry for 14 years and have had an interest in it since its inception. I can stillremember Fiona Stanley’s drive and enthusiasm to get it set up and then once it gotgoing with a Commonwealth Government research grant to get the state government tocontinue its funding.

While I liked the concept, I found it hard to believe then that it could be so good or souseful as was originally envisaged. One only has to look now at the quality of thepublications coming out of the Registry and its importance in public health issues such asthe relationship between folate intake and neural tube defects to appreciate that it isevery bit as good as its original concept.

Much of this success can be put down to the accuracy and completeness of the datarecorded in the Registry. Accuracy and completeness are essentially the result of thededication of the staff of the registry. Carol Bower and her team have always workedtirelessly to check and recheck data and to ensure that all relevant data is collected. Over one hundred sources of data are used and cross referenced to ensure that the datais as accurate and complete as possible. The support of those supplying data has alsobeen valuable, particularly as notification is purely voluntary.

Given the ever-increasing workloads for all areas of health reliance on voluntary reportingmust always be considered as a significant risk to the completeness of the data collected.The task has become considerably more difficult in recent years. Several requests havebeen made to the Department of Health to make birth defect notification statutory, butnone have been supported. The most recent request in 2005 went to the Health Minister.His response was, regrettably “Until a consensus emerges there are other matters of amore pressing nature that should be progressed.” Only one of the many interestedparties consulted did not support (but said they would not actively oppose) statutorycollection so it is difficult to see greater consensus than at present. The issue must bepursued, as the integrity of the data collected is highly likely to depend on statutorynotification.

Finally, it is with deep sadness that I record the passing of Aandra Ryan, one of theBDR’s stalwarts. Aandra was an integral part of the Registry for almost as long as I hadknown it and was a vital part of the Registry’s success. As I have already said, any dataregistry is dependent on the accuracy of its data input, and Aandra appreciated this andwas tireless in ensuring the accuracy of the data collected.

Aandra was equipped with all the tools needed to make her role, particularly in datacollection, a success. She, was exacting and persistent in her pursuit of data and theelimination of data errors, but her warmth, wit and charm always made it a pleasure toassist her. If Aandra asked you to help resolve a problem with the data she was workingon, you always felt valued and that it was an honour to assist. A visit from her alwaysbrightened my day. All those who had contact with her miss her greatly.

Dr Ashleigh Murch BSc PhD FHGSAHead of Cytogenetics DepartmentSite Director - PathWest Laboratory Medicine WA

4SUMMARY

• The Western Australian Birth Defects Registry has a commitment to obtainhigh quality, complete and population-based information on birth defects forWestern Australia (WA).

• For the purposes of the Registry, a birth defect is defined as a structural orfunctional abnormality that is present at conception or occurs before the end ofpregnancy, and is diagnosed by six years of age.

• The numerator data in this report comprise malformations occurring inlivebirths and stillbirths in WA and in pregnancies terminated because of fetalabnormalities. Birth defects diagnosed prenatally and in children up to sixyears of age are included. The denominator data are all births in WA.

• This report presents information on birth defects notified to the Registry forbirths and terminations of pregnancy occurring between 1 January 1980 and31 December 2005. A summary of the Registry's activities over the past yearis also provided.

• A total of 1055 cases of birth defects were notified to the Registry relating tobirths and terminations of pregnancy in 2004, a proportion of 3.9%. This isexpected to increase as birth defects continue to be diagnosed up to the age ofsix years in children born in 2005 (Table 1).

• Birth defects were generally more common in male infants and multiplepregnancies and were reported less frequently in Aboriginal infants comparedwith non-Aboriginal infants (Table 2).

• Birth defects were also reported less frequently for rural regions compared withmetropolitan regions (Table 3).

• In 2005, musculo-skeletal defects (12.6 per 1000 births) and cardiovasculardefects (10.1 per 1000 births) were the most common categories of birthdefects (Table 4).

• From 1980 to 1995, rates of neural tube defects (births plus terminations ofpregnancy) were around 2 per 1000 births but have fallen since 1995, thoughtto be due to a primary preventive effect of periconceptional folate. However,there is a worrying increase in 2004 (1.8 per 1000) and 2005 (1.6 per 1000).

• Chromosomal anomalies generally, and Down syndrome in particular, havebeen increasing since 1980. In 2005, the total rate for Down syndrome(livebirths, stillbirths and terminations of pregnancy) was 2.9/1000, although therate in liveborn infants has changed very little over time (Figure 7).

• Birth defects carry a high mortality. For 2005 births, a birth defect was presentin 21 stillbirths and 23 neonatal deaths (Table 5).

• The major sources of notification to the Registry were hospitals and privatepractitioners, Department of Health databases (midwives’, mortality andhospital morbidity systems) and investigative and treatment centres (Table 6).

• Research using Registry data is reported – neural tube defects, other birthdefects in relation to periconceptional folate, birth defects in infants born afterassisted reproductive technology and trends in hypospadias.

5INTRODUCTION

The Western Australian Birth Defects Registry has a commitment to obtain highquality, complete, and population-based information on birth defects for WesternAustralia, and to use this information to:

• establish how often birth defects occur in WA;

• carry out research into the causes and prevention of birth defects;

• investigate changes in the frequency of birth defects, which may point to apossible cause or provide reassurance that an increase has not occurred;

• give doctors and other health professionals information about birth defects inWA;

• provide local statistics to assist health workers who counsel families about theirchance of having a child with a birth defect;

• evaluate screening for and treatment and prevention of birth defects and assistwith planning health care facilities; and

• increase knowledge generally about birth defects.

This report provides routine statistics on notifications received by 31 August 2006 forbirths occurring between 1 January 1980 and 31 December 2005. The cases ofbirth defects comprise malformations occurring in livebirths and stillbirths in WA, andin pregnancies terminated because of fetal malformation.

Malformations diagnosed in children up to six years of age are included. Childrennot born in WA but resident in the State are not included in this report. They are,however, recorded on the Registry for such purposes as evaluation of treatment andplanning of facilities for children with malformations in WA.

A summary of the Registry's activities over the past year is also provided.

6ROUTINE STATISTICS

The numerator data in this report comprise malformations occurring in livebirths andstillbirths in WA and in pregnancies terminated because of fetal malformation. Malformations diagnosed in children up to six years of age are included. Thedenominator data in this Report are derived from information provided by theDepartment of Health and include only livebirths and stillbirths 20 weeks' gestationor more. The denominators for 2005 are preliminary only.

The proportion of births with birth defects has increased from under 5% in early birthcohorts (1980-1982) to a peak of 7.0% in 1996-1997 (Table 1). Children born from2000 onwards are not yet six years of age, and hence the percentage with birthdefects in these later years of birth can be expected to increase as birth defectscontinue to be diagnosed in children up to the age of six years.

Table 1Birth Defects in Western Australia, 1980 – 2005

_________________________________________________

Year Total Cases of WA birthsbirths in birth defects with defects

WA notified %_________________________________________________

1980 20825 988 4.71981 22240 1048 4.71982 22400 1068 4.81983 23082 1176 5.11984 22989 1194 5.21985 23402 1166 5.01986 23961 1224 5.11987 24242 1259 5.21988 25191 1309 5.21989 25582 1411 5.51990 26039 1483 5.71991 25058 1473 5.91992 25358 1596 6.31993 25370 1586 6.31994 25450 1627 6.41995 25448 1649 6.51996 25586 1757 6.91997 25257 1780 7.01998 25668 1675 6.51999 25743 1718 6.72000 25229 1670 6.62001 24932 1549 6.22002 24782 1407 5.72003 24681 1269 5.12004 25530 1204 4.72005 26905 1055 3.9

_________________________________________________

7DEMOGRAPHIC INFORMATION

(i) Race, sex and plurality (Table 2)Birth defects are generally more common in multiple births and male infants. There is alower prevalence of birth defects reported in Aboriginal children. This is thought to bedue in part to under-ascertainment of cases of birth defects in Aboriginal children.

Table 2___________________________________________________________________

Birth Defects in Western Australia births by Race, Sex and Plurality, 1980 - 2005(Percentages are for total WA births in each year)

___________________________________________________________________

Year Race Sex Pluralityof Non-aboriginal Male Single

Birth Aboriginal Female MultipleIndeterminateUnknown

_______________________________________________________________1980-84 5221 (4.9) 3210 (5.6) 5362 (4.9)

253 (4.5) 2239 (4.2) 112 (4.7)322

1985-89 6048 (5.2) 3772 (6.0) 6163 (5.2)321 (4.8) 2577 (4.3) 206 (6.5)

416

1990-94 7364 (6.1) 4475 (6.8) 7493 (6.0)401 (5.4) 3251 (5.3) 272 (8.0)

237

1995-99 8164 (6.8) 4849 (7.4) 8296 (6.7)415 (5.4) 3694 (5.9) 283 (7.5)

333

2000 1588 (6.7) 926 (7.2) 1603 (6.6)82 (5.1) 733 (5.9) 67 (8.3)

110

2001 1473 (6.3) 890 (6.9) 1491 (6.2)76 (4.6) 646 (5.3) 58 (6.6)

112

2002 1316 (5.7) 805 (6.4) 1361 (5.7)91 (5.4) 588 (4.7) 46 (6.0)

113

2003 1195 (5.2) 756 (6.0) 1207 (5.1)74 (4.8) 497 (4.1) 62 (7.8)

115

2004 1130 (5.3) 679 (5.2) 1162 (4.7)74 (4.7) 512 (4.1) 42 (5.1)

013

2005 999 (4.5) 560 (4.1) 1021 (3.9)56 (3.3) 485 (3.7) 34 (3.8)

010

_______________________________________________________________

8

(ii) Area of residenceTable 3 shows that the proportion of births with a birth defect has increased graduallyover time in all regions. Proportions are higher in the two metropolitan regions than inthe rural regions. This may be due to under-ascertainment from rural regions rather thana real difference.

Table 3_______________________________________________________________Numbers and Proportions of Cases of Birth Defects b y Year of Birth and Health

Region, 1980 - 2005(No=Number, Prop=Proportion; proportions are per 100 births)

________________________________________________________________

Health Region 1980-84 1985-89 1990-94 1995-99 2000-04 2005(WA Dept of Health) No No No No No No

Prop Prop Prop Prop Prop Prop________________________________________________________________

North Metro 2063 2576 3208 3550 2943 4325.1 5.6 6.7 7.3 6.0 4.0

South Metro 1871 2062 2628 2997 2591 3775.5 5.5 6.3 7.0 6.0 4.0

Kimberly 103 112 163 177 169 184.1 3.8 5.5 5.6 5.0 2.6

Pilbara Gascoyne 243 306 289 278 225 304.0 4.8 5.2 5.9 5.4 3.4

Midwest Murchison 144 196 202 208 165 213.3 3.9 3.8 4.7 4.4 2.7

Wheatbelt 322 344 337 331 233 324.4 5.2 5.4 6.0 4.9 3.3

Goldfields SE Coastal 188 222 270 305 232 344.1 4.2 4.8 5.4 4.8 3.6

Great Southern 197 173 190 221 142 174.9 4.3 5.0 5.8 4.1 2.3

Southwest 336 365 463 487 370 894.5 4.5 5.8 5.9 4.4 5.0

_______________________________________________________________

9DIAGNOSTIC INFORMATION

The definition of a birth defect, used by the Registry is: a structural or functionalabnormality that is present at conception or occurs before the end of pregnancy, and isdiagnosed by six years of age. This includes structural (eg spina bifida), chromosomal(eg Down syndrome) and metabolic (eg phenylketonuria) defects. Most minormalformations are excluded unless they are disfiguring or require treatment.

Of all cases registered, about 90% have at least one major malformation (with or withouta minor malformation); the remainder have only minor malformations. A list of exclusionscan be found on page 34. Each individual defect (up to a maximum of 10 defects percase) is coded according to the 5-digit British Paediatric Association ICD-9 system. Syndrome diagnoses are coded along with the major individual defects seen in thatinfant (eg Down syndrome, VSD and duodenal atresia occurring in one child are allcoded).

Table 4 shows the number and proportion per 1000 total births of the major categories ofdefects, as well as the more common or important defects individually, by year of birth. Since about a quarter of the cases registered have more than one defect, the totalnumber of defects exceeds the total number of cases. Figures 1 - 6 show theprevalence per 1000 total births for selected malformations by year of birth, from 1980-2005 and Figures 7 and 8 show livebirths, terminations and total cases with neural tubedefects and Down syndrome.

Some trends of note are:

• There has been a fall in neural tube defects in total since 1995, and inanencephaly and spina bifida when considered separately. This is believed to bedue to increased maternal intake of periconceptional folate, as folic acidsupplements, and in food (including foods voluntarily fortified with folic acid). However, there is an upturn in total neural tube defects (1.8 per 1000 in 2004; 1.6 per1000 in 2005), due to an increase in spina bifida, raising concern that the messageabout periconceptional folate is not as effective as it has in the past.

• The apparent fall in prevalence of some defects in 2004-5 is due to late diagnosis orregistration of birth defects. For example, most cases of undescended testes areregistered at the time surgery is undertaken, usually around 1-2 years of age.

• The gradual rise in chromosomal defects since 1980 is a result of the increasingnumbers of pregnancies in women over 35 years of age, and may also be related tothe increased use of first trimester screening. There has been little change, however,in the rate of Down syndrome in liveborn infants (Figure 8).

• There has been falls in rates of developmental dysplasia of the hip and pyloricstenosis and an increase in tracheo-oesophageal fistula/oesophageal atresia ,possible explanations for which will be investigated.

10

Table 4_______________________________________________________________________

Numbers and Proportions of Cases of Birth Defects b y Year of Birth and Diagnosis, 1980 - 2005(Proportions are per 1000 births and are only calculated if number of cases is greater than 13)

No=Number, Prop=Proportion_______________________________________________________________________

Diagnostic Category and 80-84 85-89 90-94 95-99 00 01 02 03 04 05(British Paediatric No No No No No No No No No NoAssociation Code) Prop Prop Prop Prop Prop Prop Prop Prop Prop Prop_______________________________________________________________________

NERVOUS SYSTEM DEFECTS 479 523 601 593 127 119 114 82 87 104(74000 - 74299) 4.3 4.3 4.7 4.6 5.0 4.8 4.6 3.3 3.4 3.9

Neural Tube Defects 207 236 253 204 42 35 34 26 45 42(74000 - 74209) 1.9 1.9 2.0 1.6 1.7 1.4 1.4 1.1 1.8 1.6

Anencephalus 92 111 110 91 21 15 17 11 15 15(74000 - 74029) 0.8 0.9 0.9 0.7 0.8 0.6 0.7 0.6 0.6

Spina Bifida 96 107 117 97 19 15 16 13 26 23(74100 - 74199) 0.9 0.9 0.9 0.8 0.8 0.6 0.6 1.0 0.9

Encephalocoele 19 18 26 16 2 5 1 2 4 4(74200 - 74209) 0.2 0.1 0.2 0.1

Microcephaly 65 58 74 70 10 14 17 8 8 12(74210) 0.6 0.5 0.6 0.5 0.6 0.7

Congenital Hydrocephalus 78 79 113 124 19 23 21 16 14 23(excludes those with NTD) 0.7 0.6 0.9 1.0 0.8 0.9 0.8 0.6 0.5 0.9(74230 - 74239)

Congenital Deafness 74 90 102 106 31 20 12 12 9 6(74287) 0.7 0.7 0.8 0.8 1.2 0.8

CONGENITAL ANOMALIES OF EYE 128 137 178 183 29 26 31 18 19 13(74300 - 74399) 1.1 1.1 1.4 1.4 1.1 1.0 1.3 0.7 0.7

Anophthalmia 6 7 4 10 2 1 1 0 2 1(74300 - 74309)

Microphthalmia 16 24 24 31 4 4 5 4 4 2(74310 - 74319) 0.1 0.2 0.2 0.2

Congenital Cataract and 28 31 53 49 10 5 7 3 5 3Lens Anomalies 0.3 0.3 0.4 0.4(74330 - 74339)

CONGENITAL ANOMALIES OF EAR, 246 345 458 571 114 128 107 90 71 81FACE AND NECK (74400 - 74499) 2.2 2.8 3.6 4.5 4.5 5.1 4.3 3.6 2.8 3.0

Anotia, Microtia 18 26 34 39 4 10 4 3 4 5(74400 - 74401, 74421) 0.2 0.2 0.3 0.3

11Table 4 (continued)

_______________________________________________________________________Diagnostic Category and 80-84 85-89 90-94 95-99 00 01 02 03 04 05(British Paediatric No No No No No No No No No NoAssociation Code) Prop Prop Prop Prop Prop Prop Prop Prop Prop Prop_______________________________________________________________________

Branchial Remnants 50 70 75 77 12 15 10 8 4 2(74400 - 74448) 0.4 0.6 0.6 0.6 0.6

CARDIOVASCULAR DEFECTS 868 1071 1512 1613 341 323 322 279 288 272(74500 - 74799) 7.8 8.8 11.9 12.6 13.5 13.0 13.0 11.3 11.3 10.1

Transposition of Great Vessels 37 60 50 64 8 13 15 14 14 13(74510 - 74519) 0.3 0.5 0.4 0.5 0.6 0.6 0.5

Tetralogy of Fallot 37 37 59 43 6 6 12 9 6 10(74520) 0.3 0.3 0.5 0.3

Ventricular Septal Defect 446 536 839 909 203 174 188 139 161 164(74540 - 74549) 4.0 4.4 6.6 7.1 8.0 7.0 7.6 5.6 6.3 6.1

Atrial Septal Defect 163 160 238 262 52 50 48 36 35 33(74551 - 74559) 1.5 1.3 1.9 2.1 2.1 2.0 1.9 1.5 1.4 1.2

Hypoplastic Left Heart Syndrome 24 22 33 22 6 3 3 2 5 5(74670) 0.2 0.2 0.3 0.2

Patent Ductus Arteriosus 151 163 220 256 39 49 42 38 38 45(74700) 1.4 1.3 1.7 2.0 1.5 2.0 1.7 1.5 1.5 1.7

Coarctation of Aorta 51 68 78 64 14 14 20 24 16 15(74710 - 74719) 0.5 0.6 0.6 0.5 0.6 0.6 0.8 1.0 0.6 0.6

RESPIRATORY SYSTEM DEFECTS 109 126 117 184 34 38 32 29 28 25(74800 - 74899) 1.0 1.0 0.9 1.4 1.3 1.5 1.3 1.2 1.1 0.9

Choanal Atresia 16 19 17 17 3 8 5 0 0 0(74800 - 74809) 0.1 0.2 0.1 0.1

GASTRO-INTESTINAL DEFECTS 693 789 811 868 161 148 145 165 151 132(74900 - 75199) 6.2 6.4 6.4 6.8 6.4 5.9 5.9 6.7 5.9 4.9

Cleft Palate only 95 105 138 152 32 34 30 31 21 32(74900 - 74909) 0.9 0.9 1.1 1.2 1.3 1.4 1.2 1.3 0.8 1.2

Cleft Lip only 49 62 65 59 16 12 12 23 20 14(74910 - 74919) 0.4 0.5 0.5 0.5 0.6 0.9 0.8 0.5

Cleft Lip and Palate 84 110 63 100 16 17 19 13 24 12(74920 - 74929) 0.8 0.9 0.5 0.8 0.6 0.7 0.8 0.9

Tracheo-Oesophageal Fistula, 34 43 35 42 12 5 11 9 12 16Oesophageal Atresia/Stenosis 0.3 0.4 0.3 0.3 0.6(75030 - 75038)

________________________________________________________________________



Pyloric Stenosis 215 256 237 224 28 31 29 32 25 22(75050 - 75058) 1.9 2.1 1.9 1.8 1.1 1.2 1.2 1.3 1.0 0.8

Stenosis/Atresia Small Intestine 34 31 32 36 10 5 5 12 6 9(75110 - 75119) 0.3 0.3 0.3 0.3

Stenosis/Atresia Anus 62 60 85 73 17 23 14 13 17 16(75123 - 75125) 0.6 0.5 0.7 0.6 0.7 0.9 0.6 0.7 0.6

Hirschsprung's Disease 19 18 33 21 5 2 3 4 2 2(75130 – 75133) 0.2 0.1 0.3 0.2

URO-GENITAL DEFECTS 1494 1781 2338 2496 497 462 377 349 319 208(75200 - 75399) 13.4 14.6 18.4 19.5 19.7 18.5 15.2 14.1 12.5 7.7

Undescended Testis (treated) 726 818 850 736 135 121 117 91 75 33(75250 - 75253) 6.5 6.7 6.7 5.8 5.4 4.9 4.7 3.7 2.9 1.2

Hypospadias 300 363 444 458 105 95 81 77 83 64(75260, 75263 - 75269) 2.7 3.0 3.5 3.6 4.2 3.8 3.3 3.1 3.3 2.4

Renal Agenesis or Dysgenesis 46 40 57 69 9 11 14 11 17 8(75300 - 75301) 0.4 0.3 0.4 0.5 0.6 0.7

Cystic Kidney Disease 27 51 90 96 21 36 22 24 21 15(75310 - 75319) 0.2 0.4 0.7 0.8 0.8 1.4 0.9 1.0 0.8 0.6

Obstructive Defects Renal Pelvis 51 103 203 285 49 60 46 49 48 32(75320 - 75329) 0.5 0.8 1.6 2.2 1.9 2.4 1.9 2.0 1.9 1.2

Vesico-Ureteric Reflux 194 285 489 646 116 94 60 54 48 20(75344) 1.7 2.3 3.8 5.1 4.6 3.8 2.4 2.2 1.9 0.7

Other Anomalies of Ureter 88 101 202 227 35 32 26 34 28 22(75340 - 75343, 75345 - 75349) 0.8 0.8 1.6 1.8 1.4 1.3 1.0 1.4 1.1 0.8

MUSCULO-SKELETAL DEFECTS 1679 1729 2001 2336 470 402 383 331 323 338(75400 - 75699) 14.1 15.7 18.3 18.6 16.1 15.5 13.4 12.7 12.6 15.1

Developmental Dysplasia of Hip 758 744 776 938 176 161 138 104 132 141 (75430-75434, 75439) 6.8 6.1 6.1 7.3 7.0 6.5 5.6 4.2 5.2 5.2

Talipes 269 243 267 253 65 57 60 56 61 57(75450, 75473) 2.4 2.0 2.1 2.0 2.6 2.3 2.4 2.3 2.4 2.1

Polydactyly 105 130 128 154 30 24 21 33 25 22(75500 - 75509) 0.9 1.1 1.0 1.2 1.2 1.0 0.8 1.3 1.0 0.8

Syndactyly 76 81 66 77 12 13 12 15 11 14(75510 - 75519) 0.7 0.7 0.5 0.6 0.6 0.5

________________________________________________________________________



Reduction Deformities 67 74 102 131 23 30 22 16 15 22Upper and/or Lower Limbs 0.6 0.6 0.8 1.0 0.9 1.2 0.9 0.6 0.6 0.8(75520 - 75549)

Craniosynostosis 50 58 86 74 8 16 8 14 8 6(75600, 75601) 0.4 0.5 0.7 0.6 0.6 0.6

Diaphragmatic Hernia 36 33 36 55 10 3 7 8 7 9(75661) 0.3 0.3 0.3 0.4

Exomphalos 20 38 47 41 8 7 14 19 12 9(75670) 0.2 0.3 0.4 0.3 0.6 0.8

Gastroschisis 15 22 32 53 6 9 9 13 7 8(75671) 0.1 0.2 0.3 0.4

CONGENITAL ANOMALIES OF 337 386 518 707 119 118 109 67 57 21INTEGUMENT (75700 - 75799) 3.0 3.2 4.1 5.5 4.7 4.7 4.4 2.7 2.2 0.8

Birth Marks, Naevus 195 218 285 434 66 66 61 38 31 8(75738) 1.7 1.8 2.2 3.4 2.6 2.6 2.5 1.5 1.2

CHROMOSOME DEFECTS 220 317 451 547 159 120 116 119 145 147(75800 - 75899) 2.0 2.6 3.5 4.3 6.3 4.8 4.7 4.8 5.7 5.5

Down Syndrome 129 186 219 251 77 53 69 55 75 79(75800 - 75809) 1.2 1.5 1.7 2.0 3.1 2.1 2.8 2.2 2.9 2.9

Trisomy 13 8 14 18 22 10 5 5 10 10 11(75810 - 75819) 0.1 0.1 0.2

Trisomy 18 18 21 49 65 23 21 14 22 11 25(75820 - 75829) 0.2 0.2 0.4 0.5 0.9 0.8 0.6 0.9 0.9

Turner Syndrome 14 16 34 45 13 12 8 12 15 8(75860 - 75861, 75869) 0.1 0.1 0.3 0.4 0.6

OTHER

Congenital Hypothyroidism 16 33 54 40 10 15 9 13 15 6(24390 - 24399) 0.1 0.3 0.4 0.3 0.6 0.6

Adrenogenital Disorder 7 9 9 15 5 3 2 1 3 3(25520 - 25529) 0.1

Disorders of Amino Acid 15 23 27 34 8 6 0 6 6 7Transport and Metabolism 0.1 0.2 0.2 0.3(27000 - 27099)

________________________________________________________________________



Phenylketonuria 6 7 7 7 2 3 0 4 2 3(27010)

Disorders of Carbohydrate 13 8 14 8 5 1 0 0 2 0Transport and Metabolism 0.1(27100 - 27199)

Cystic Fibrosis 33 43 43 28 16 9 8 11 9 16(27700) 0.3 0.4 0.3 0.2 0.6 0.6

G6PD Deficiency 17 27 22 44 6 2 7 8 6 0(28220) 0.2 0.2 0.2 0.3

Thalassemias 3 2 6 6 1 1 0 1 0 0(28240 - 28249)

Haemophilia 11 8 4 17 4 3 6 2 3 0(28600 - 28620) 0.1

Muscular Dystrophies 35 37 23 30 4 5 0 0 2 1and Myopathies 0.3 0.3 0.2 0.2(35900 - 35999)

Fetal Alcohol Syndrome 15 21 22 24 7 4 16 7 10 2(75992) 0.1 0.2 0.2 0.2 0.6

Congenital Rubella Syndrome 16 9 7 2 1 0 1 0 0 0(77100) 0.1

Non-Immune Fetal Hydrops 21 41 86 87 23 21 13 18 15 21(77800) 0.2 0.3 0.7 0.7 0.9 0.8 0.7 0.6 0.8

________________________________________________________________________

15

Figure 1 : Prevalence of neural tube defects

0

0.5

1

1.5

2

2.5

3

80 83 86 89 92 95 98 2001 2004

Year

pe

r 1

00

0 b

irth

s

Neural Tube Defects Anencephalus Spina Bifida

Figure 2 : Prevalence of cardiovascular defects

0

2

4

6

8

10

12

14

16

80 82 84 86 88 90 92 94 96 98 2000 2002 2004

Year

pe

r 1

00

0 b

irth

s

Card io vascu lar defects Trans o f g reat vessels VSD

16

Figure 3 : Prevalence of hypospadias& renal agenesis/dysgenesis

0

0.5

1

1.5

2

2.5

3

3.5

4

4.5

5

80 83 86 89 92 95 98 2001 2004

Year

pe

r 1

00

0 b

irth

s

hypospadias renal agenesis/dysgenesis

Figure 4 : Prevalence of diaphragmatic hernia & gastroschisis

0

0.1

0.2

0.3

0.4

0.5

0.6

0.7

0.8

80 83 86 89 92 95 98 2001 2004

Y ear

pe

r 1

00

0 b

irth

s

D iaphragmatic hernia gastroschisis

17

Figure 5 : Prevalence of chromosome defects

0

1

2

3

4

5

6

7

80 83 86 89 92 95 98 2001 2004

Y ear

pe

r 1

00

0 b

irth

s

A ll chromosome defects Down S yndrome Trisomy 18

Figure 6 : Prevalence of Fetal Alcohol Syndrome

0

0.1

0.2

0.3

0.4

0.5

0.6

0.7

80 83 86 89 92 95 98 2001 2004

Year

pe

r 1

00

0 b

irth

s

Fetal Alcohol Syndrome

18

Figure 7 : Total, livebirths and terminations ofpregnancy for neural tube defects

0

0.5

1

1.5

2

2.5

3

80 83 86 89 92 95 98 2001 2004

Year

pe

r 1

00

0 b

irth

s

Total L iveb irths TOP

Figure 8 : Total, livebirths and terminations of pregnancy for Down syndrome

0

0.5

1

1.5

2

2.5

3

3.5

80 83 86 89 92 95 98 2001 2004

Year

pe

r 1

00

0 b

irth

s

Total Livebirths TOP

19DEATHS

Table 5 shows the number (and percentage) of stillbirths, neonatal and post-neonataldeaths known to have a birth defect. Terminations of pregnancy are those which occurredfollowing prenatal diagnosis of a fetal abnormality. Between 8% and 15% of stillbirths havea reported birth defect, as do 27% - 41% of neonatal deaths and 18% - 39% of post-neonatal deaths.

Rates of termination of pregnancy for fetal abnormality have increased from 1.2 per 1000births in 1980-1984 to 6.7 per 1000 in 2005.

Table 5Deaths with Birth Defects 1980 - 2005

______________________________________________________________________Stillbirths Neonatal Postneonatal Terminations of

Year deaths deaths pregnancyof (% is of all (% is of all (% is of all post-

Birth stillbirths) neonatal deaths) neonatal deaths

No. % No. % No. % No. ______________________________________________________________________

1980-84 121 13.1 247 38.5 118 31.0 134

1985-89 124 13.2 267 41.0 97 24.7 272

1990-94 137 15.3 189 40.3 93 28.5 473

1995-99 136 15.0 149 40.2 80 37.9 636

2000 23 12.6 19 31.7 10 35.7 183

2001 13 7.8 30 41.1 17 39.5 148

2002 20 11.4 15 28.3 10 31.3 160

2003 24 13.0 18 34.0 6 17.6 169

2004 17 9.0 17 27.9 9 34.6 155

2005 21 10.5 23 * 18 * 180

______________________________________________________________________* Total numbers of neonatal and post-neonatal deaths not yet available for 2005, hence percentages notcalculable

20NOTIFICATIONSInformation is collected from statutory data sources (Midwives’ Notification System, deathcertifications, Hospital Morbidity System) and voluntary notification is sought from manyothers. Table 5 documents the numbers of notifications received from different sources byyear of birth of the child. Most sources provide very consistent levels of notification. Ofconcern is the reduction in number of notifications from private practitioners in 2003-2005. Private practitioners are an important source of notifications and we are working to ensurethat privacy and confidentiality issues are not a barrier to notification.

Table 6Sources of Notifications by Year of Birth of Cases Notified, 1980 - 2005

__________________________________________________________________

Notifiers 1980-841985-89 1990-94 1995-99 2000 2001 2002 2003 2004 2005

MIDWIVES' FORMS 1651 1693 1613 1427 364 241 242 243 267 223

DEATH CERTIFICATES 446 449 378 375 69 74 65 64 66 90

HOSPITAL MORBIDITY 509 978 1320 1971 385 372 320 305 238 *

PAEDIATRIC HOSPITALS 2828 2712 2967 2050 316 259 303 244 251 302EXCL SPECIAL DEPTS

PAEDIATRIC HOSPITALS 640 1520 1896 1909 339 320 326 241 288 273SPECIAL DEPARTMENTS

OBSTETRIC HOSPITALS 830 945 1056 1003 157 147 172 209 170 139EXCL SPECIAL DEPTS

OBSTETRIC HOSPITALS 140 188 408 595 132 147 119 133 143 133SPECIAL DEPARTMENTS

OTHER HOSPITALS 319 102 51 30 9 4 6 3 6 6

CYTOGENETIC SERVICES 179 219 400 530 156 111 109 112 131 142

PATHOLOGY SERVICES 405 400 563 647 170 148 150 147 124 167

GENETICS SERVICES 808 1122 1500 1607 339 295 259 245 215 189

PRIVATE PRACTITIONERS 2381 2614 3154 3590 724 726 638 507 486 425

CHILD & COMMUNITY HEALTH 769 435 422 253 27 20 14 14 10 15NURSES & DOCTORS

RURAL PAEDIATRIC SERVICE 75 211 351 260 39 37 31 24 11 8

OTHER 465 161 57 60 1 1 0 0 0 0

REGISTER CHECK 500 251 251 176 21 21 20 18 12 10

TOTAL 12945 14000 16387 16483 3248 2923 2774 2509 2418 2122

_____________________________________________________________________* Hospital morbidity data for 2005 births not available for inclusion in these figures.

21

REGISTRY ACTIVITIES

Resources and Services

1. Provision of dataThe Registry is a comprehensive source of information on birth defects in WA for use in allrelevant areas of health service provision, policy development, research and evaluation. Provision of data from the Registry may take two forms: (1) unnamed tabulated informationsimilar to that contained in this report; and (2) named or unnamed unit data for specificresearch projects. Requests for the latter must be submitted in writing to the Registry in thefirst instance, and then forwarded to the Confidentiality of Health Information Committee for theDepartment of Health, WA, for approval (see Confidentiality Guidelines, page 33).

2. Information on malformations and teratogensThe Registry maintains an extensive library of reprints and acts as a resource for informationnot directly available from the Registry data. Staff also seek information from elsewhere ordirects enquiries to other sources, as appropriate. Over the past year, 37 requests forinformation have been received. Four of these requests were from the Department of Health,24 were from health professionals and institutions in WA, Australia or overseas and eight werefrom the general public or students. About a third of the requests required a considerableamount of computing, analysis and discussion, and responses to most of the remainderinvolved provision and/or interpretation of published data.

3. PresentationsIn the past year, the following presentations were made:• “Prenatal diagnosis of birth defects in WA”. Women’s and Infants’ Research

Foundation Rising Stars Symposium.• “Fetal abnormality and stillbirth”. SIDS and Kids and PSANZ Mortality Group, Perth.• “Fetal Alcohol Syndrome”. Goldfields Weekend, Eastern Goldfields Medical Division

of General Practice, Kalgoorlie.• “Fetal Alcohol Spectrum Disorder. Report of the Intergovernmental Council on

Drugs FASD Working Party”. Ministerial Council on Drugs Strategy, Perth.• “Modelling NTD prevention”. Food Standards Advisory Group, Food Standards

Australia New Zealand, Canberra.

4. National Perinatal Statistics Unit (NPSU)WA data for 1998-2001 births with birth defects were provided to NPSU for their revised datacollection system, and a report is due for publication in 2006.

5. International Clearinghouse for Birth Defect Survei llance and ResearchData based on 2004 births were provided to the International Clearinghouse, for inclusion inthe 2006 Annual Report of the Clearinghouse. WA data contributed to a paper accepted forpublication on international trends in neural tube defects and other birth defects in relation topromotion of folate and fortification of food with folic acid.

22

Research Activities

1. Birth defects in infants born after Assisted Reprod uctive Technology (ART)Data on birth defects in ART-conceived infants reported by IVF clinics in WA to the NationalPerinatal Statistics Unit were compared with data obtained by record linkage to the BirthDefects Registry for the same infants. This was a collaborative study between the Registry,the clinics and the NPSU, coordinated and conducted by Ms Michele Hansen. The BirthDefects Registry data were found to be more complete and strongly suggests that the Registryis a more reliable source of information. A paper based on the study has been accepted forpublication.

2. Neural tube defectsA paper has been published using data from the WA Registry, along with data from Victoria,South Australia and New Zealand to estimate of the number of neural tube defects that wouldbe expected to be prevented at differing levels of fortification of food with folate. The paperwas based on a report provided last year to the Food Standards Australia New Zealand lastyear to assist in government deliberations about mandatory fortification. on this analysis. Theoutcome of these deliberations is expected toward the end of 2006.

3. Folate and other birth defectsResults of a case-control study of periconceptional folate intake (dietary and supplementalsources) and several major birth defects were published in 2006. The study examined data for62 cases of orofacial clefts, 151 with heart defects, 117 with urinary tract defects, 26 with limbreduction defects and 119 with a variety of other major birth defects, as well as 578 controlswith no birth defects. No evidence was found of periconceptional folic acid being an importantpreventive factor for any of these defects. This finding is consistent with the international studythrough the International Clearinghouse, of data from 15 registries in North America, Europeand Ausrtalia (including WA data).

4. Epidemiology of hypospadias in WAThis project involves a number of studies investigating the incidence and trends, risk factorsand health outcomes associated with hypospadias in WA.

The first study investigating hypospadias involved the examination of the incidence and trendsof hypospadias in WA between 1980 and 2000. Findings showed a total of 1788 cases wereregistered during the study period with hypospadias diagnosed on average for 1 in every 285births. Results also highlighted that the rate of hypospadias increased by 2% per annum from28 per 10,000 births in 1980 to 43 per 10,000 births in 2000 and, in particular, the rate ofmoderate or severe hypospadias (which occurs in 11% of all cases) almost doubled. There wasalso a consistent rise both in infants diagnosed with isolated hypospadias and infants who alsohad other co-existing anomalies, although infants with co-existing anomalies were more likelyto have a severe form of hypospadias. The results from this study have been submitted forpublication.

Studies currently underway include an investigation of maternal and paternal reproductivehealth and genetic risk factors that may be associated with hypospadias; and another study toinvestigate the health status, outcomes and health service utilisation of infants withhypospadias and those who have had surgical repair in WA between 1980 and 2003. A furtherstudy is also being conducted in collaboration with investigators from the Children's HospitalBoston to determine the association between first trimester maternal serum levels of human

23

chorionic gonadotropin and the risk of hypospadias or other urogenital anomalies.PUBLICATIONS

1981Seward JF and Stanley FJ. The Congenital Malformations Register in Western Australia. Med J

Aust 1981; 1:218-224.Stanley FJ. Fetotoxic chemicals and drugs. Med J Aust 1981; 1:688-693.Bower C and Stanley FJ. Herbicides and cleft lip and palate. (Letter) Lancet 1981;2:1247.Stanley FJ. Neural tube defects in relation to 2, 4, 5,-T usage. (Letter) Chem in Aust 1981; 48(3).

1982Stanley FJ, deKlerk N, Margetts B and Bower C. Assessment of folate status in pregnancy.

(Letter) Lancet 1982; 2:1100.1983English D and Bower C. Alcohol consumption, pregnancy and low birthweight. (Letter) Lancet

1983; 1:111.Bower C and Stanley FJ. Western Australian Congenital Malformations Register. Med J Aust

1983; 2:189-191.1984Bower C, Hobbs M, Carney A, Simpson D. Neural tube defects in Western Australia, 1966-1981

and a review of Australian data 1942-1981. J Epidemiol Community Health, 1984; 38:208-213.Armstrong BK and Stanley FJ. Birth defects and Vietnam service. Med J Aust 1984; 1:388-389.Stanley FJ. Special registers of disease. In Leeder SR (Ed) Handbook on Research Methodology.

Transactions of Menzies Foundation 1984; Vol.7.51-60.1985Stanley FJ, Johnston R, Brooks B, Priscott P and Bower C. Congenital malformations in infants of

mothers with diabetes and epilepsy in Western Australia. Med J Aust 1985; 143:440-442.Stanley FJ, Burgar PJ, Fong NW and Milroy HM. Congenital rubella syndrome in Western

Australia. Aust Paediatr J 1985; 21(2):111-114.1986Stanley FJ, Sim M, Wilson G and Worthington S. The decline in congenital rubella syndrome in

Western Australia: An impact of the school girl vaccination program? Am J Public Health 1986;76(1):35.

Stanley FJ and Bower C. Teratogenic drugs in pregnancy. Med J Aust 1986;145:596-599.1987Bower C, Stanley FJ and Kricker A. Congenital dislocation of the hip in Western

Australia: a comparison of neonatally and postneonatally diagnosed cases. ClinOrthop and Rel Res. 1987; 224:37-45.

Bower C, Stanley FJ and Walters BNJ. Pre-eclampsia and Trisomy 13. (Letter) Lancet1987; ii:1032.

1989Bower C, Stanley FJ. Dietary folate as a risk factor for neural tube defects: evidence from

a case-control study in Western Australia. Med J Aust 1989; 150:613-619.Bower C, Stanley FJ, Morgan B, Slattery H, Stanton C. Screening for congenital

dislocation of the hip by child health nurses in Western Australia. Med J Aust1989; 150:61-65.

Bower C, Forbes R, Seward M, Stanley F. Congenital malformations in Aboriginalsand non-Aboriginals in Western Australia 1980-87. Med J Aust 1989;151:245-248.

1990

24

Bower C, Forbes R, Ryan A, Rudy E. Validation studies from the Western AustralianCongenital Malformations Registry. Community Health Studies, 1990; XIV:274-278.

Bower C, Ryan A, Rudy E, Forbes R. Carpe Diem: the advantages of locating a birthdefects register within a research unit, a health department and an obstetric hospital. Perinatal Newsletter 1990; 11:4.

1991Walpole IR, Hodgen N, Bower C. Congenital toxoplasmosis: a large survey in Western

Australia. Med J Aust 1991; 154:720-724.Stanley FJ, Read A, Morich P, Hanna J, Bower CI. Aboriginal research in the Western

Australian Research Institute for Child Health. Aboriginal Health Information Bulletin1991;15:26-31.

1992Bower C, Stanley FJ. Periconceptional vitamin supplementation and neural tube defects;

evidence from a case-control study in Western Australia and a review of recentliterature. J Epid Comm Hlth 1992; 46:157-161.

Bower C, Stanley F. The role of nutritional factors in the aetiology of neural tube defects. JPaed Child Health 1992; 28:13-16.

Bower C, Stanley F, Connell AF, Gent CR, Massey MS. Birth defects in the infants ofAboriginal and non-Aboriginal mothers with diabetes in Western Australia. Med J Aust1992; 156:520-524.

Condon R, Bower C. Congenital rubella after previous maternal vaccination (letter). Med JAust 1992; 156:882.

Bower C, Stanley FJ. Dietary folate and non-neural midline defects: no evidence of anassociation from a case-control study in Western Australia. Am J Med Genet 1992;44:647-650.

Bower C. Folate and fetal abnormalities: the prevention of neural tube defects. Proc NutritionSoc Aust 1992;17:198-202.

Bower C, Blum L, Grace L. What do women of childbearing age know about birth defects andfolate? Health Promotion Journal of Australia 1992;2:53-54.

1993Bower C, Hockey A. Bladder exstrophy and exomphalos in successive pregnancies. In:

Blastogenesis Normal and Abnormal. Ed John M Opitz. March of Dimes Birth DefectsFoundation. Birth Defects: Original Article Series vol 29(1). Wiley-Liss, New York,1993.

Bower C, Stanley FJ, Croft M, de Klerk NH, Davis RE, Nicol DJ. Absorption ofpteroylpolyglutamates in mothers of infants with neural tube defects Br J Nutrition1993;69: 827-834.

Bower C, Stanley FJ, Spickett JT. Maternal hair zinc and neural tube defects: no evidence ofan association from a case-control study in Western Australia. Asia-Pacific Journal ofPublic Health 1993;16:156-158.

Bower C, Raymond M, Lumley J, Bury G. Trends in neural tube defects 1980-1989. Med JAust 1993;158:152-154.

Bower C, Stanley FJ, Nicol DJ. Maternal folate status and the risk for neural tube defects: therole of dietary folate. Annals of the New York Academy of Sciences 1993;678:146-155.

Condon R, Bower C. Rubella vaccination and congenital rubella syndrome in WesternAustralia. Med J Aust 1993;158:379-382.

Bower C, Parker R, Lockley J, Hee G, Fernandez G, Hockey A. Attitudes towards moleculargenetic testing for neurofibromatosis type I in Western Australia (letter). J Paediatricsand Child Health 1993;29:158.

25

Walpole IR, Phillips J, Pemberton PJ, Bower C, Goldblatt J. The limitation of referral levelfetal ultrasound examination in the detection of spina bifida in Western Australia,1990,1991. Med J Aust 1993;159:441-444.

Bower C, Norwood F, Knowles S, Haan E, Chambers H, Chan A. Amniotic band syndrome intwo Australian states. Paediatr Perinatal Epidemiol 1993;7:395-403.

Bower C. Clusters of birth defects. Med J Aust 1993;159:574-576.1994Bower C. Epilepsy in pregnancy: neural tube defects and folate. Med J Aust 1994;160:56-57.Wald NJ, Bower C. Folic acid, pernicious anaemia, and prevention of neural tube defects.

Lancet 1994;343:307.Walpole IR, Pemberton PJ, Goldblatt J, Bower C. Screening for neural tube defects (letter in

response). Med J Aust 1994;160:384.Bower C. Epilepsy in pregnancy (letter in response). Med J Aust 1994; 160:805-806.Bower C, Ramsay JM. Congenital heart disease: a ten-year cohort. J Paediatr Child Health

1994;30:414-418.Kalucy M, Bower C, Stanley F, Burton P. Survival of infants with neural tube defects in

Western Australia 1966-1990. J Paediatr Perinatal Epidemiol 1994;8:334-351.Bower C. Folate and the prevention of neural tube defects. Proceedings of the 13th National

Conference, Dietitians Association of Australia 1994;38-42.1995Bower C. Folate and neural tube defects. Nutrition Reviews 1995;53:S33-S38.Marsack CR, Alsop CL, Kurinczuk JJ, Bower C. Prepregnancy counselling for the primary

prevention of birth defects: rubella vaccination and folate intake. Med J Aust1995;162;403-406

Wald NJ, Bower C. Folate fortification: the population strategy. BMJ 1995;310:1019-1020.Bower C, Blum L, Ng ML, Irvin C, Kurinczuk J. Folate and the prevention of neural tube

defects: the pharmacist's contribution. Australian Pharmacist 1995;14:367-371.English DR, Holman CDJ, Milne E, Winter MG, Hulse GK, Codde J, Bower CI, Corti B, Dawes

V, de Klerk N, Knuiman M, Kurinzcuk JJ, Lewin GS, Ryan GA. The quantification ofdrug-caused morbidity and mortality in Australia, 1995 edition. CommonwealthDepartment of Human Services and Health, Canberra, 1995.

Bower C. The value of a birth defects register: the Western Australian experience. Perspectives in Human Biology 1995;1:29-36.

Leonard H, Thompson R, Bower C, Fyfe S, Constantinou J. Skeletal abnormalities in Rettsyndrome: the increasing evidence for dysmorphogenetic defects. Am J Med Genet1995;58:282-285.

Green W, Bower C, Miller M. The dietary intake of folate and the effects of restoration andfortification on folate intake in women of childbearing age. Aust J Nutrition Dietetics1995;52:118-122,130.

1996Hockey A, Bower C, Goldblatt J, Knowles S. Fetal valproate embryopathy in twins - genetic

modification of the response to a teratogen. Birth Defects: Original Article Series32(1):399-403, Wiley Liss, New York, 1996.

Kalucy M, Bower C, Stanley FJ. School-aged children with spina bifida in Western Australia -parental perspectives on functional outcome. Develop Med Child Neurol 1996;38:325-334.

Bower C, Wald NJ. Vitamin B12 deficiency and the fortification of food with folic acid. Europ JClin Nutrition 1995;49:78

Alessandri LM, Read AW, Stanley FJ, Burton PR, Dawes VP, Bower C. SIDS and birthdefects in Aboriginal infant deaths (letter). J Paed Child Health 1995;63:

26

Bower C, Wald NJ. Neural tube defects. In: Fetal Therapy: invasive and transplacental. Cambridge University Press, Cambridge, 1996.

Bower C, Blum L, Watson C, Stanley F. Folate and the prevention of neural tube defects: ahealth promotion project in Western Australia. Health Promotion International1996;11:177-187.

Holman CD'AJ, English DR, Bower C, Kurinczuk JJ. NHMRC recommendations onabstinence from alcohol in pregnancy (letter). Med J Aust 1996;164:699.

Bower C, Stanley F. Issues in the prevention of spina bifida. J Royal Soc Med 1996;89:436-442.

Bower C. Folate and birth defects. Aust J Nutrition Dietetics 1996;53(Suppl):S5-S8.O'Leary P, Bower C, Murch A, Crowhurst J, Goldblatt J. The impact of antenatal screening for

Down syndrome in Western Australia: 1980-1994. Aust J Obstet Gynaecol 1996;36:1-4.1997Bower C, Stanley FJ. Does periconceptional multivitamin use reduce the risk of neural tube

defects associated with other birth defects? (Letter in response). Am J Med Genet1997;70:206.

Stanley FJ, Read AW, Kurinczuk JJ, Croft M, Bower C. A population database for maternaland child health. Seminars in Neonatology 1997;2:195-201.

Bower C, Knowles S, Nicol D. Changes in folate supplementation, and in serum and red cellfolate levels in antenatal patients over the course of a health promotion project for theprevention of neural tube defects. Aust NZ J Obstet Gynaecol 1997;37:267-271.

Walpole IR, Watson C, Moore D, Goldblatt J, Bower C. Evaluation of a project to enhanceknowledge of hereditary diseases and management. J Med Genet 1997;34:831-837.

Bower C, Blum L, O’Daly K, Higgins C, Loutsky F, Kosky C. Promotion of folate for theprevention of neural tube defects: trends in the knowledge and use of periconceptionalfolic acid supplements in Western Australia, 1992-1995. Aust NZ J Public Health1997;21:716-721, and Erratum, in Aust NZ J Public Health 1998:22:72.

Kurinczuk JJ, Bower C. Birth defects in Belgian ICSI infants - an alternative explanation. BMJ 1997;315:1260-1266.

Hulse GK, English DR, Milne E, Holman CDJ, Bower C. Maternal cocaine use and lowbirthweight newborns: a meta-analysis. Addiction 1997;92:1561-1570.

English DR, Hulse GK, Milne E, Holman CDJ, Bower C. Maternal cannabis use andbirthweight: a meta-analysis. Addiction 1997;92:1553-1560.

Leonard H, Bower C, English D. The prevalence and incidence of Rett syndrome in Australia. Eur J Child Adolesc Psychiatr 1997;6(Suppl):8-10.

1998Byron-Scott R, Chan A, Bower C, Scott H, Clark K. A population-based study of abdominal

wall defects in South Australia and Western Australia. Paediatr Perinat Epidemiol1998;12:136-151.

Leonard H, Bower C. Is the girl with Rett syndrome normal at birth? Develop Med ChildNeurol 1998;40:115-121.

Worthington S, Bower C, Harrop K, Loh J, Walpole I. 22q11 deletions in patients withconotruncal heart defects. J Paediatr Child Health 1998;34:438-443.

Glasson EJ, Bower C, Thomson MR, Fyfe S, Leonard S, Rousham E, Christadoulou J,Ellaway C, Leonard H. Diagnosis of Rett syndrome: can a simple radiograph help? Develop Med Child Neurol 1998;40:737-742.

Lumley J, Watson L, Watson M, Bower C. Periconceptional supplementation with folateand/or multivitamins to prevent neural tube defects (Cochrane Review). In: TheCochrane Library, Issue 3, 1998, Oxford: Update Software.

Leonard H, Thomson MR, Glasson EJ, Fyfe S, Leonard S, Bower C, Christodoulou J, EllawayC. A population based approach to the investigation of osteopenia in Rett syndrome.

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Develop Med Child Neurol 1998;.41:323-328.1999Leonard, H., Thomson, M., Glasson, E., Fyfe, S., Leonard, S., Christodoulou, J., Ellaway, C.,

Bower, C. Metacarpophalangeal Pattern Profile and Bone Age in Rett Syndrome:Further Radiological Clues to the Diagnosis. Am J Med Genet: 1999;83:88-95.

Singer S, Bower C, Southall P, Goldblatt J. Craniosynostosis in Western Australia, 1980-1994: a population based study. Am J Med Genet 1999; 83:382-387.

Leonard S, Bower C, Petterson B, Leonard H. Medical aspects of school-aged children withDown syndrome. Develop Med Child Neurol 1999; 41:683-688.

Leonard S, Bower C, Petterson B, Leonard H. Survival of infants born with Down syndrome:1980-1996. Paediatr Perinatal Epidemiol 2000; 14:163-171.

Lumley J, Watson L, Watson M, Bower C. Periconceptional supplementation with folateand/or multivitamins to prevent neural tube defects (Cochrane Review) [substantiveupdate]. In: The Cochrane Library, Issue 1, 1999, Oxford: Update Software.

Bower C, Kurinczuk JJ, Stanley FJ. Spina bifida and folate (letter). Med J Aust 1999;170:143-144.

Bower C. What do we know about birth defects? In: Genetics: the Facts, Fiction, Issues andEthics. Proceedings of the 1998 Scitech Lecture Series. Health Department ofWestern Australia, Perth 1999.

2000Honnor M, Zubrick SR, Walpole I, Bower C, Goldblatt J. Population screening for cystic

fibrosis in Western Australia: the community response. Am J Med Genet 2000; 93:198-204.

Singer S, Bower C, Southall P, Goldblatt J. Genetics and craniosynostosis (letter inresponse). Am J Med Genet 2000;90:84.

Bower C, Leonard H, Petterson B. Intellectual disability in Western Australia. J Paed ChildHealth 2000; 36:213-215.

Felix JF, Badawi N, Kurinczuk JJ, Bower C, Keogh JM, Pemberton PJ. Birth defects inchildren with newborn encephalopathy. Dev Med Child Neurol 2000;42:803-808.

Bower C, Silva D, Henderson TR, Ryan A, Rudy E. Completeness of ascertainment of birthdefects: the effect of adding a new source of data. J Paed Child Health, 2000;36:574-576.

2001Bower C, Ryan A, Rudy E. Completeness of ascertainment of terminations of pregnancy for

fetal abnormality: the effect of adding a new source of data. Teratology 2001;63:23-25,plus Erratum: Teratology 2001;63:164.

Bower C. Werler MM. Folate before pregnancy: are we doing enough? (Editorial). Med J Aust2001;174:619-620.

Lumley J, Watson L, Watson M, Bower C. Modelling the potential impact of population-widepericonceptional folate/multivitamin supplementation on multiple births. British J ObstetGynaecol 2001;108:937-942.

Giele H, Giele C, Bower C, Allison M. The incidence and epidemiology of congenital upperlimb anomalies: a total population study. J Hand Surg (Am) 2001;26:628-634.

Bower C. What can we claim about health claims? (Leading Article) Aust J Nutr Diet 2001;58:209-210.

Lumley J, Watson L, Watson M, Bower C. Periconceptional supplementation with folateand/or multivitamins to prevent neural tube defects (Cochrane Review) [substantiveupdate]. In: The Cochrane Library, Issue 3, 2001, Oxford: Update Software.

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2002Kurinczuk JJ, Bower, C, Lewis B, Byrne G. Congenital hypothyroidism in Western Australia

1981-1998. J Paediatr Child Health 2002;38:187-191.Leonard S, Msall M, Bower C, Tremont M, Leonard H. The functional status of school-aged

children with Down syndrome. J Paediatr Child Health 2002;38:160-165.Bower C, Rudy E, Ryan A, Miller M. Trends in neural tube defects in Western Australia. Aust

NZ J Public Health 2002;26:150-151.Hansen M, Kurinczuk JJ, Bower C, Webb S. The risk of major birth defects associated with

intracytoplasmic sperm injection and in-vitro fertilization. New Engl J Med2002;346:725-730.

Bailey HD, Bower C, Krishnaswamy J, Coates HL. Newborn hearing screening in WesternAustralia. Med J Aust 2002;177:180-185.

2003Gordon C, Walpole I, Zubrick S, Bower C. Population Screening for Cystic Fibrosis:

Knowledge and Emotional Consequences 18 Months Later. Am J Med Genet2003;120A:199-208.

Carey, M., Bower, C., Mylvaganam, A. and Rouse, I. Talipes equinovarus in WesternAustralia. Paediatr Perinatal Epidemiol 2003;17:187-194.

Bower C. Fortification of food with folic acid and the prevention of neural tube defects[Editorial]. New Zealand Med J 2003;116:

Kwon S, Bower C, English D. Birth defects in the offspring of non-Caucasian, non-Indigenouswomen in Western Australia. Birth Defects Research 2003; 67:515-521.

Werler MM, Bower C, Payne J, Serna P. Findings on potential teratogens from a case-control study in Western Australia. ANZ J Obstet Gynaecol 2003;43:443-447.

Serna P, Bower C, Payne J, Miller M, Stanley FJ. Encouraging women to participate inreproductive research. Australian Epidemiologist 2003;10.2:26-28.

2004Bower C, Eades S, Payne J, D'Antoine H, Stanley FJ. Trends in neural tube defects in

Western Australia in Indigenous and non-Indigenous populations. Paediatr PerinatEpidemiol 2004;18:277-280.

Kurinczuk JJ, Hansen M, Bower C. The risk of birth defects in children born after assistedreproductive technologies. Current Opinion in Obstetrics & Gynaecology 2004;16:201-210.

Elliott EJ, Bower C. FAS in Australia: fact or fiction? (Editorial). J Paediatr Child Health2004;40:8-10.

Bower C, Miller M, Payne J, Serna P, de Klerk N, Stanley FJ. Folate promotion in WesternAustralia and the prevention of neural tube defects. Aust NZ J Public Health2004;28:458-464.

Bower C, Stanley FJ. Case for mandatory fortification of food with folate inAustralia, for the prevention of neural tube defects. Birth Defects ResearchPart A: Clinical and Molecular Teratology 2004;70:842-3.

2005Bourke J, Bower C, Blair E, Charles A, Knuiman M. The effect of terminations of

pregnancy for fetal abnormalities on trends in mortality to one year of age inWestern Australia. Paediatric and Perinatal Epidemiology 2005;19:284-93.

Bower C, Hansen M. Assisted reproductive technologies and birth outcomes:overview of recent systematic reviews. Reproduction, Fertility, andDevelopment 2005;17:329-33.

Carey M, Mylvaganam A, Rouse I, Bower C. Risk factors for isolated talipes

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equinovarus in Western Australia, 1980-1994. Paediatric and PerinatalEpidemiology 2005;19:238-45.

Hansen M, Bower C, Milne E, de Klerk N, Kurinczuk JJ. Assisted reproductivetechnologies and the risk of birth defects-a systematic review. HumanReproduction 2005;20:328-38.

Jablensky AV, Morgan V, Zubrick SR, Bower C, Yellachich LA. Pregnancy, delivery,and neonatal complications in a population cohort of women withschizophrenia and major affective disorders. American Journal of Psychiatry2005;162:79-91.

Colvin J, Sokol J, Dickinson JE, Bower C. Outcome of diaphragmatic hernia: apopulation based study in Western Australia. Pediatrics 2005;116:356-363.

Hadlow NC, Hewitt BG, I Dickinson JE, Jacoby P, Bower C. Community basedscreening for Down syndrome in the first trimester using ultrasound andmaternal serum biochemistry. Brit J Obstet Gynaecol 2005;112:1561-4.

Payne J, Elliott EJ, D’Antoine H, O’Leary C, Mahony A, Haan E, Bower C. Healthprofessionals’ knowledge, practice and opinions about fetal alcohol syndromeand alcohol consumption in pregnancy. ANZ J Public Health 2005; 29:558-64.

2006Bower C, de Klerk N, Hickling S, Ambrosini G, Flicker L, Geelhoed E, Milne E.

Assessment of the potential effect of incremental increases in folic acid intakeon neural tube defects in Australia and New Zealand. ANZ J Public Health2006; 30:369-74.

O’Leary P, Breheny N, Dickinson JE, Bower C, Goldblatt J, Hewitt B, Murch A,Stock R. First-trimester combined screening for Down syndrome and otherfetal anomalies. Obstet Gynecol 2006;107:869-876.

Bower C, Miller M, Payne J, Serna P. Folate intake and the primary prevention ofnon-neural birth defects. Aust NZ J Public Health 2006;30:258-261.

Bittles AH, Bower C, Hussain R, Glasson EJ. The four ages of Down syndrome.European Journal of Public Health European J Public Health 2006; epub July19.

Bower C, de Klerk N, Milne E, Bailey H, Ambrosini G, Hickling S, Geelhoed E,Flicker L, O’Leary P. Plenty of evidence on mandatory folate fortification(letter). Aust NZ J Public Health 2006;30:81-81 (and Erratum, Aust NZ JPublic Health 2006; 30:188).

Hadlow NC, Hewitt BG, Dickinson JE, Jacoby P, Bower C. Community-basedscreening for Downs Syndrome in the first trimester using ultrasound andmaternal serum biochemistry. (letter). Brit J Obstet Gynaecol 2006; 113: 363-364.

O'Leary C. Bower C. Payne J. Elliott E. Fetal alcohol syndrome. [Letter] AustralianFamily Physician. 35(4):184, 2006

Bower C. Primary prevention of neural tube defects with folate in Western Australia:the value of the Western Australian Birth Defects Registry. CongenitalAnomalies2006; 46(2):118-21.

Elliott EJ, Payne J, Haan E, Bower C. Diagnosis of fetal alcohol syndrome andalcohol use in pregnancy: a survey of paediatricians’ and trainees’knowledge, attitudes and practice. J Paed Child Health (accepted March,2006).

Petterson B, Bourke J, Leonard H, Jacoby P, Bower C. Co-occurrence of birthdefects and intellectual disability. Paediatr and Perinatal Epidemiol (acceptedApril 2006).

Oddy W, Miller, M, Payne, JM, Serna, P, Bower, C. Awareness and consumption of

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folate fortified foods by women of child bearing age in Western Australia. JPublic Health Nutrition (accepted April 2006).

Botto LD, Lisi A, Bower C, Canfield M, Dattani N, De Vigan C, De Walle H, EricksonDJ, Halliday J, Irgens LM, Lowry B, Mc Donnell R, Metneki J, Poetzch S,Ritvanen A, Robert-Gnansia E, Siffel C, Stoll C, Mastroiacovo P. Trends ofSelected Malformations in Relation to Folic Acid Recommendations andFortification: an International Assessment. Birth Defects Research Part A(accepted August 2006).

Hansen M., Sullivan E., Jequier A.M., Burton P., Junk S., Yovich J., Bower C. Practitioner reporting of birth defects in children born following ART: does itstill have a role in surveillance of birth defects? Human Reproduction(accepted September, 2006).

REPORTS

Seward J, Bower C and Stanley FJ. Western Australian Congenital Malformations RegisterReport - the first six months, 1 Jan - 30 June 1980. NH&MRC Unit, Perth, 1980.

Bower C, Stanley FJ, Payne J, Johnston R. The Western Australian CongenitalMalformations Register Annual Report for 1980. NH&MRC Research Unit inEpidemiology and Preventive Medicine, Perth, 1981.

Bower C and Stanley FJ. The Western Australian Congenital Malformations Register: A toolin the estimation of disability and its prevention. In Australian Group for the ScientificStudy of Mental Deficiency: Beyond normalisation - philosophy, theory and practices inservices for the intellectually handicapped in Australia Vol. 1. University of WesternAustralian Press, Perth, 1982, 356-360.

Bower C, Stanley FJ, Payne J and Johnston R. The Western Australian CongenitalMalformations Register Annual Report for 1981. NH&MRC Research Unit inEpidemiology and Preventive Medicine, Perth, 1982.

Bower C, Stanley FJ, Payne J, Chester B, Johnston R and Honnor M. Western AustralianCongenital Malformations Register. Annual Report for 1982. NH&MRC Research Unitin Epidemiology and Preventive Medicine, Perth, 1983.

Waddell V, Stanley FJ and Bower C. Western Australian Congenital Malformations RegisterAnnual Report for 1983. NH&MRC Research Unit in Epidemiology and PreventiveMedicine, Perth, 1984.

Stanley FJ. Review for Royal Commission: Paternal Agent Orange Exposure and BirthDefects, 1-43 and 1-47, 1984.

Bower C and Stanley FJ. Report of the Congenital Malformations Register of WesternAustralia 1980-1985. Health Department of Western Australia, Statistical Series/4,Perth, 1986.

Bower C, Stanley FJ and Robson B. Report on a survey of child health nurse screening forcongenital dislocation of the hip in Western Australia. Health Department of WesternAustralia, Statistical Services, Perth, 1987.

Bower C, Stanley FJ, Forbes R and Rudy E. Report of the Congenital Malformations Registerof Western Australia 1980-1986. Health Department of Western Australia, StatisticalSeries/8, Perth, 1987.

Bower C, Stanley FJ, Forbes R and Rudy E. Report of the Congenital Malformations Registryof Western Australia 1980-1987. Health Department of Western Australia, StatisticalSeries/13, Perth, 1988.

Bower C, Forbes R, and Stanley F. Report of an investigation of congenital malformations inCarnarvon 1980-1987. Health Department of Western Australia, Occasional Paper/30,Perth, 1988.

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Bower C, Goldblatt J, Hagan R, Knowles S. Recommendations for a screening programmefor neural tube defects in Western Australia using maternal serum alpha-feto proteinestimation. Health Department of Western Australia, Occasional Paper/39, Perth,1989.

Bower C, Forbes R, Rudy E, Ryan A, Stanley FJ. Report of the Congenital MalformationsRegistry of Western Australia 1980-1988. Health Department of Western Australia,Statistical Series/16, Perth, 1989.

Bower C, Forbes R, Rudy E, Ryan A, Stanley F. Report of the Birth Defects Registry ofWestern Australia 1980-1989. Health Department of Western Australia, StatisticalSeries/22 Perth, 1990.

Bower C, Rudy E, Ryan A, Forbes R, Stanley F. Report of the Birth Defects Registry ofWestern Australia 1980-1990. Health Department of Western Australia, StatisticalSeries/29, Perth, 1991.

Bower C, Rudy E, Ryan A, Forbes R, Stanley F. Report of the Birth Defects Registry ofWestern Australia 1980-1991. Health Department of Western Australia, StatisticalSeries/32, Perth, 1992.

Bower C, Rudy E, Ryan A, Forbes R, Grace L. Report of the Birth Defects Registry ofWestern Australia 1980-1992. Health Department of Western Australia, StatisticalSeries/36, Perth, 1993.

Bower C, Rudy E, Ryan A, Forbes R, Grace L. Report of the Birth Defects Registry ofWestern Australia 1980-1993. King Edward Memorial Hospital, No.1, 1994.

Bower C, Blum L. Report of the Folate and Neural Tube Defects Prevention Project. Institutefor Child Health Research, 1995.

Bower C. Final Report of the Folate Before Pregnancy Project. Institute for Child HealthResearch, 1995.



Alessandri LM, Leonard H, Blum L, Bower C. Disability Counts - a profile of disability inWestern Australia. Disability Services Commission, Perth, 1996.

Bower C, Rudy E, Ryan A, Grace L. Report of the Birth Defects Registry of Western Australia1980-1996. King Edward Memorial Hospital, No.4, 1997.

Bower C, Rudy E, Ryan A, Grace L. Report of the Birth Defects Registry of Western Australia1980-1997. King Edward Memorial Hospital, No.5, 1998.

Silva D, Palandri G, Bower C, Gill L, Codde JP, Gee V, Stanley FJ. Child and AdolescentHealth in Western Australia - An Overview. Health Department of WA and TVWTelethon Institute for Child Health Research, WA, August 1999.

Silva D, Palandri G, Bower C, Gill L, Codde JP, Gee V, Stanley FJ. Specific Child andAdolescent Problems in Western Australia. Health Department of WA and TVWTelethon Institute for Child Health Research, WA, August 1999.

Bower C, Ryan A, Rudy E, Cosgrove P. Report of the Birth Defects Registry of WesternAustralia 1980-1998. King Edward Memorial Hospital, No.6, 1999.

Bower C, Rudy E, Ryan A, Cosgrove P. Report of the Birth Defects Registry of WesternAustralia 1980-1999. King Edward Memorial Hospital, No.7, 2000.

Bower C, Rudy E, Ryan A, Cosgrove P. Report of the Birth Defects Registry of WesternAustralia 1980-2000. King Edward Memorial Hospital, No.8, 2001.

Bower C, Ryan A, Rudy E, Cosgrove P. Report of the Birth Defects Registry of WesternAustralia 1980-2001. King Edward Memorial Hospital, No.9, 2002.

Bower C, Ryan A, Rudy E, Cosgrove P. Report of the Birth Defects Registry of WesternAustralia 1980-2002. Women’s and Children’s Health Service, No.10, 2003.

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Bower C, Ryan A, Rudy E, Cosgrove P. Report of the Birth Defects Registry of WesternAustralia 1980-2003. Subiaco: King Edward Memorial Hospital, Centre for Women'sHealth; No.11, 2004

Bower C, Rudy E, Ryan A, Cosgrove P. Report of the Birth Defects Registry of WesternAustralia 1980-2003. Subiaco: King Edward Memorial Hospital, Centre for Women'sHealth. No.12, 2005.

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BIRTH DEFECTS REGISTRY OF WESTERN AUSTRALIAGUIDELINES FOR CONFIDENTIALITY AND RELEASE OF DATA

1. Responsibility for the confidentiality of the birth defects data lies ultimately with theDirector General of Health.

2. All staff are instructed regarding the need for and maintenance of confidentiality. Thestaff are responsible to the Director General for ensuring that confidentiality ismaintained.

3. All routine reports from the collection are in statistical form without identification ofindividual patients, doctors or hospitals.

4. Non-routine release of tabulated, non-personally identified data from the Birth DefectsRegistry is the responsibility of and at the discretion of the Medical Officer of theRegistry.

5. Access to patient identifiers by other than Registry staff or Registry researchpersonnel will be given only by the express permission of the Director General, on theadvice of the Confidentiality of Health Information Committee.

6. Such permission will be granted only if:(i) It is considered that such use of the data would promote the prevention or alleviationof handicap associated with congenital malformations (see Part IXA of the Health Act);(ii) It is considered unlikely to harm the patients or parents concerned in any way.

Should permission be granted for the release of personal identifiers, the followingrequirements will be made:(a) That only minimum identification necessary to the proposed use be given (eg for a

case record review project in teaching hospitals, only unit medical record numberwould be supplied)

(b) That the use of the data be under the supervision of a registered medicalpractitioner;

(c) That the data be handled according to the code of confidentiality set down by theConfidentiality of Health Information Committee, particularly no confidential data tobe released to any third party;

(d) That no approach be made directly to patients or their parents without:(i) The knowledge and consent of all the notifiers of that patient to the Registry;(ii)The knowledge and consent of the patient's present primary care physician(insofar as this person can be identified).

7. All persons who have access to name identified data for routine maintenance of theRegistry or for research purposes shall complete a signed declaration binding them torespect the confidentiality of the information obtained therein, and to follow this codeof practice.

8. Any costs incurred in fulfilling these guidelines are to be borne by the requestingbody.

9. Final reports or papers for publication are to be vetted by the Medical Officer of theRegistry before publication.

10. Where a member of the Registry staff has made a significant intellectual contributionto the work using the Registry data, then the staff member(s) concerned should beauthor(s) on any relevant publication arising from that work.

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REGISTRY EXCLUSION LIST(if in doubt please notify or contact us on 9340 2735)

Accessory nipplesBalanced translocation (in normalindividual without birth defect(s)Blocked tear ductBirth mark, Naevus, Haemangioma(unless multiple or >4cm - give size)Broncho-pulmonary dysplasiaClicky hipsCongenital Infection (if no birthdefects)Congenital pneumoniaCerebral palsyDelayed milestonesDeviated nasal septumEar anomalies - minorEpigastric herniaEpilepsyFailure to thriveGalactosaemia - Duarte VariantHiatus herniaHydatid Of MorgagniHydrocele testisHydrops fetalis - immune(include if non-immune hydrops)HypoglycaemiaImperforate hymenInguinal herniaIntrauterine growth retardationIntussusceptionLabial adhesion or fusionLarge fontanellesLaryngeal stridorLaryngomalaciaLow birth weight

Meconium ileusMental retardationMetatarsus adductus (unlesssplinted)Mongolian blue spotMotor impairmentOesophageal refluxParoxysmal atrial tachycardiaPatent foramen ovalePersistent fetal circulationPerthe's diseasePilonidal sinusPositional/Postural foot deformitySacral dimpleSacral sinus (unrelated to occultspinal dysraphism)Single palmar creaseSingle umbilical arterySkin tagStrabismusThalassemia MinorToe anomalies - minorTongue tieTricuspid incompetenceTrigger finger/thumb (unlesstreated)Umbilical herniaUndescended testis (unlesstreated)Webbing of 2nd & 3rd toesWide suture linesWolf Parkinson White syndrome

Revised May 2006

report of the birth defects registry of western …/media/files... · abnormalities. birth defects...

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