Birth Defects in South Australia 2010

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1 Women s & Children s Hospital Birth Defects in South Australia 2010 South Australian Birth Defects Register Women s & Children s Hospital Adelaide, South Australia March 2015

2 Birth Defects in South Australia 2010 Children born from 1986 to 2010 with birth defects notified to the South Australian Birth Defects Register by 31 st March 2011

3 The South Australian Birth Defects Register Location Specialist Advisors to the Register Health Informatics, Planning, Performance Outcomes Prof Eric Haan, Clinical Genetics (HIPPO) Unit A/Prof Bruce Foster, Orthopaedic Surgery Women s and Children s Hospital Campus Mr Peter Cundy, Orthopaedic Surgery Women s and Children s Health Network Prof David David, Craniofacial Surgery Ground Floor, Angas Building Dr Malcolm Richardson, Cardiology 72 King William Road Dr Hilary Boucaut, Urology North Adelaide, South Australia 5006 Dr Steve Santoreneos, Neurosurgery Telephone: (08) A/Prof Tom Revesz, Haematology/Oncology sabdr@health.sa.gov.au SABDR Website (to access online version of Birth Defects in South Australia and Prenatal Screening for Congenital Anomalies reports): Staff Ms Ann-Marie Hayes, Head, SA Birth Defects Register Dr Wendy Scheil, Public Health Physician, Pregnancy Outcome Unit, SA Health Dr Catherine Gibson, Manager Ms Heather Scott, Manager Mrs Rosie Rice, Register Officer Advisory Committee (for 2010 Report) Dr Judy Jaensch, Paediatrician Dr Geoffrey Martin, General Practitioner Dr Karen Shand, Obstetrician Dr Brian Peat, Obstetrician Dr Wendy Scheil, Representing SA Health Epidemiology Branch Dr Catherine Gibson, Representing the SA Birth Defects Register Ms Heather Scott, Representing the SA Birth Defects Register Prof Eric Haan, Clinical Geneticist Printing Rainbow Press PO Box 2221 Regency Park SA rainbowpress@senet.com.au Suggested Citation Gibson CS, Scott H, Scheil W. Birth Defects in South Australia Adelaide. SA Birth Defects Register, Women s and Children s Health Network, 201. ISSN

4 Contents Birth Defects in South Australia 2010 Executive summary... v Introduction...vi Demographics... 1 Types of birth defects notified... 7 Trends in selected birth defects, SA Sentinel defects Deaths associated with birth defects Sources of notification Birth defects detected/notified after discharge from the birth hospital Publications and presentations i

5 Tables, Figures and Appendices Table 1: Birth defects in children born in South Australia, Table 2: Cases with birth defects by residence of mother at time of birth, SA Table 3: Cases with birth defects by sex of child, SA Table 4: Cases with birth defects by mother s race, SA Table 5: Cases with birth defects by plurality, SA Table 6: Cases with specified birth defects by diagnostic category, SA Table 7: Cases of sentinel defects by CURB region, SA Table 8: Deaths associated with birth defects, SA Table 9: Cases with birth defects notified after discharge form the birth hospital by major diagnostic category, SA Figure 1: Birth defects in children born in South Australia, Figure 2: South Australian CURB (Committee on Uniform Regional Boundaries) regions... 3 Figure 3: Cases with birth defects by sex of child, SA Figure 4: Cases with birth defects by mother s race, SA Figure 5: Cases with birth defects by plurality, SA Figure 6: Cases with birth defects by major diagnostic category, SA (prevalence per 1,000 births)... 7 Figure 7: Trends in selected birth defects, SA Figure 8: Prevalence of sentinel defects, SA Figure 9: Deaths associated with birth defects by death category, SA Figure 10: Sources of notification, SA : Total notifications received Figure 11: Percentage of cases with birth defects notified after discharge from the birth hospital by diagnostic category, SA Appendix 1: Background information on the South Australian Birth Defects Register Appendix 2: Confidentiality guidelines Appendix 3: Notification form Appendix 4: Birth defect inclusions and exclusions ii

6 South Australian Birth Defects Register Staff South Australian Birth Defects Register Staff Left to Right: Mrs Rosie Rice, Dr Wendy Scheil, Dr Catherine Gibson Associate Professor Peter Baghurst, Ms Heather Scott iii

7 Thanks to notifiers and acknowledgements We wish to thank all the notifiers who supplied the information on which this report is based. We greatly appreciate their support and advice, the time and effort they spend on completing the forms and their cooperation in supplying extra information when requested. In particular, we would like to express our thanks to the staff of the particular departments who have data collections or registers with which the Birth Defects Register interfaces: Women s and Children s Health Network: The Department of Cardiology for data on congenital heart defects, The Division of Medical Imaging for radiology and ultrasound information, The Medical Records Department. SA Pathology: Genetics and Molecular Pathology for cytogenetics reports, Down syndrome data, information on maternal serum screening, inborn errors of metabolism, abnormal neonatal screening results and data on prenatal diagnostic tests such as amniocentesis and chorionic villus sampling, Surgical Pathology for autopsy reports, Haematology. We also express thanks to the Medical Records Departments of South Australian metropolitan and regional hospitals, in particular Flinders Medical Centre, Lyell McEwin Health Service, The Memorial Hospital, Ashford Hospital, Calvary North Adelaide Hospital, St Andrew s Hospital and Parkwynd Private Hospital. We would like to thank all those people who have contributed to the South Australian Birth Defects Register since its inception. Their ongoing support and practical contribution is much appreciated. Special thanks are due to the staff of the Pregnancy Outcome Unit, particularly Joan Scott and Leonie Sage, for providing the important perinatal data and to Kevin Priest and Anh-Minh Nguyen, the staff of the Health Statistics Unit of the Epidemiology Branch, SA Health for assistance with data linkage and statistical support. The Birth Defects Register Advisory Committee was established in June 1989 to advise the Register on issues of confidentiality and to review the activities of the Register. We thank its members for their time, expertise and valuable advice. Dr Judy Jaensch, Paediatrician Dr Geoffrey Martin, General Practitioner Dr Wendy Scheil, Epidemiology Branch of SA Health Prof Eric Haan, Clinical Geneticist Dr Karen Shand, Obstetrician Dr Brian Peat, Obstetrician The advice of many clinicians has been sought on the classification and coding of defects in specialised areas, eg. orthopaedics, craniofacial surgery, urology, neurosurgery and cardiology. We would like to express our gratitude to these consultants for their ongoing guidance. Thank you to Dr Bill Carey of Softcare Software for the creation and continued support of our computing software. Thanks to the WA Register of Developmental Anomalies, the Congenital Malformations Register of Victoria and the AIHW National Perinatal Statistics Unit for their ongoing support. iv

8 Executive summary This report presents data on birth defects in South Australia for The Register received 971 (4.9% of total births) notifications of children born with one or more birth defects in The proportion of total births with birth defects for the period was 5.9%. The difference represents the additional notifications, around 30%, received over the Register s further four year ascertainment period for each birth year cohort. In 2010 Demographics: The Murraylands CURB region recorded the highest proportions of births with birth defects, with 5.7% of total births, compared to the lowest proportion of 3.1% seen in the Yorke and Lower North CURB region. These differences are not statistically significant and reflect year to year variation in prevalence of birth defects and in ascertainment between regions. The prevalence of sentinel birth defects is similar across all regions when assessed over longer time periods. As seen in previous years, male sex and multiple births are associated with an increased risk of birth defects. Births to Caucasian mothers had a higher proportion of birth defects (5.1%), compared with births to Asian mothers (3.1%) and Aboriginal mothers (4.3%). Neural tube defects and Down syndrome: There were 39 births or terminations with neural tube defects. The Register documented a significant decreasing trend in the prevalence of neural tube defects between 1986 and There were 51 births or terminations with Down syndrome. There is an increasing trend in the total prevalence of Down syndrome between 1986 and 2010 due to increasing maternal age. Reported birth defects: The most commonly reported birth defects were musculoskeletal and urogenital abnormalities with 13.7 and 12.4 cases respectively per 1,000 total births. Chromosomal abnormalities had a prevalence of 5.0 per 1,000 total births. Deaths: 21% of spontaneous stillbirths and 34.1% of neonatal deaths were associated with birth defects. Late identification of birth defects: 27.4% of gastrointestinal defects and 31.7% of cardiovascular defects were identified after discharge from the birth hospital. The 2010 report of Prenatal Screening for Congenital Anomalies has been published separately and is available online ( v

9 Introduction The South Australian Birth Defects Register is a population-based collection of information on birth defects, including cerebral palsy, from a population with an average of 19,687 births per year over the past five years. The Register collects information on all children born in South Australia on or after 1 st January 1986 who have a significant birth defect detected in the first five years of life. It thus complements and extends the collection of congenital abnormalities detected in the perinatal period and notified by doctors to the Pregnancy Outcome Unit of SA Health. The SA Birth Defects Register aims to provide complete, accurate and up-to-date information for the following purposes: Establishing local prevalence rates for birth defects Monitoring the occurrence of defects over time and by geographical area to allow investigation of suspected teratogens Increasing community knowledge about birth defects through education and by acting as a source of information Utilisation of local prevalence rates to plan health care facilities Epidemiological studies on the causation of birth defects As an accurate diagnostic index for clinical research The Register defines a birth defect as any abnormality, structural or functional, identified up to five years of age, provided that the condition had its origin before birth. It includes: Terminations of pregnancy at any gestation performed because of a diagnosis of a birth defect, Stillbirths and newborn babies with birth defects, Children diagnosed with a birth defect after the neonatal period and prior to their fifth birthday. The Register is located in the Women s and Children s Hospital in the Health Informatics, Performance, Planning and Outcomes (HIPPO) Unit. This is an ideal location for the following reasons: The majority of children with birth defects requiring medical or surgical care are referred to the Women s and Children s Hospital for assessment or further management at some stage. The major paediatric diagnostic services and perinatal/paediatric pathology services are located at the Women s and Children s Hospital. Notifications of birth defects come from various sources including: Doctors and other health professionals involved with the care of children with birth defects in hospitals, special paediatric assessment, treatment and rehabilitation centres, private practices The Pregnancy Outcome Unit of SA Health, The State Perinatal Autopsy Service Diagnostic services including laboratories diagnosing cytogenetic, molecular genetic or biochemical abnormalities, and organ imaging departments. This annual report presents information for the years , including birth defects notified up to March 2011 for children born in 2010 and updates numbers and rates for the years 2005 to Notifications for the cohorts of children born between 1986 and 2005 are now complete. All children in the 2005 cohort reached their fifth birthday by the end of 2010 and notifications of defects received by 31 st March 2011 have been accepted for inclusion. After this date the 2005 cohort is considered complete and no further notifications are added. Similarly, the 2011 report will record complete numbers for the 2006 birth cohort. The 2010 report of Prenatal Screening for Congenital Anomalies has been published separately and is available online ( For further information regarding the SA Birth Defects Register, Confidentiality Guidelines, Inclusion and Exclusion Lists, and a copy of the Notification Form, please refer to the Appendices at the end of this report. vi

10 Demographics This report includes all notifications of birth defects for births and terminations of pregnancy occurring in South Australia in the years and received by 31 st March, The percentages and numbers of births with birth defects for the years are provided in Table 1 and Figure 1 respectively. As birth defects continue to be diagnosed and notified to the Register up to the age of 5 years, the percentage of births with birth defects is higher in cohorts with 5 completed years of ascertainment than in more recent cohorts (see Table 1). This is particularly true for defects such as congenital heart disease and urogenital malformations, which often are not diagnosed at birth. It is noteworthy that the percentage of total births with birth defects has not changed significantly since the Register began to collect data in Table 1: Birth defects in children born in South Australia, Year of Total Cases of Percentage of Births Birth Births Birth Defects With Birth Defects ,747 22, ,803 1, ,757 1, ,970 1, ,901 1, , Total 478,180 28, The numerator used in calculating the percentage is all South Australian births and terminations with birth defects. These consist of livebirths and stillbirths of at least 400g birthweight or 20 weeks gestation, and terminations of pregnancies of fetuses with birth defects. The denominator used is the total number of livebirths and stillbirths only, and excludes terminations of pregnancy before 20 weeks gestation. This makes our statistics comparable with those of other registers, but slightly overestimates the percentage of births with defects. This denominator has been selected also because accurate statistics on terminations may not be available elsewhere (as they are in South Australia), and fetuses from terminations in early pregnancy may not be examined for birth defects. Spontaneous fetal deaths, where weight is less than 400g and gestation is less than 20 weeks, are not included among the Register cases as accurate statistics on them are unavailable. Notifications of children with birth defects who were born outside South Australia in the years but who are currently resident in South Australia are not included in the statistics. Figure 1: Birth defects in children born in South Australia, !+""#!$""# $""""# 9:;1<3#-=#>/5<56#78#!!""#!"""# *""# '""# )""# &""#?/5<5#-=#123.4#@<=<>.56#78#,-./0# #78#!'"""#!&"""#!%"""#!$"""#,-./0# #78# (""#!*'&#!*''#!**"#!**$#!**%#!**&#!**'# $"""# $""$# $""%# $""&# $""'# $"!"#!""""# 1

11 Demographics Residence of Mother Table 2 shows the distribution of cases by residence of mother at time of birth (see Figure 1). Births to mothers resident interstate had the highest prevalence of birth defects due to the referral of high risk pregnancies from interstate to Adelaide tertiary hospitals. In 2010, the Murraylands region recorded the highest percentage of cases with birth defects (5.7% of total births), compared with the lowest percentage (3.1%) in the Yorke and Lower North region. However, for the period , the Central Northern region had the highest overall percentage of birth defects (6.3%) and the South East region had the lowest overall percentage (4.9%). Over this period there was significant (χ 2 = , p<0.0001) variation in the prevalence of total birth defects between CURB regions. However, there was no significant difference between CURB regions (χ 2 = 2.22, p=0.14) for sentinel defects which are more reliably identified (Table 7). This suggests that the variation seen for total birth defects is due to differences in ascertainment between CURB regions. Table 2: Cases with birth defects by residence of mother at time of birth, SA Year of Birth Total CURB^ No. No. No. No. No. No. No. Region (%*) (%*) (%*) (%*) (%*) (%*) (%*) Central Northern (6.5) (6.0) (6.3) (6.2) (6.1) (5.0) (6.3) Central Western (6.3) (6.0) (6.9) (6.4) (5.0) (4.3) (6.2) Central Eastern (6.3) (6.4) (6.4) (5.7) (5.5) (4.4) (6.2) Central Southern (5.6) (7.0) (5.9) (6.1) (5.4) (5.2) (5.7) Yorke & Lower North (5.7) (5.2) (6.3) (5.6) (4.4) (3.1) (5.5) Murraylands (5.5) (4.4) (5.9) (5.6) (5.8) (5.7) (5.5) South East (4.9) (5.0) (4.7) (4.8) (5.8) (3.9) (4.9) Northern (5.1) (5.4) (5.0) (5.4) (5.0) (3.8) (5.1) Eyre (5.1) (6.3) (5.3) (2.8) (4.4) (4.5) (5.0) Residence - Interstate** or Unknown (10.0) (20.4) (18.1) (12.0) (16.8) (18.3) (11.3) Total (6.0) (6.2) (6.2) (6.0) (5.6) (4.9) (5.9) *Number of children with birth defects in the region divided by the total number of births in the region x 100 ** Usual residence interstate but born in South Australia ^ Committee on Uniform Regional Boundaries (CURB) 2

12 Demographics Figure 2: South Australian CURB^ Regions ^Committee on Uniform Regional Boundaries (CURB) 3

13 Demographics Sex of Child The sex distribution of children born between 1986 and 2010 in South Australia with notified birth defects is shown in Table 3 and Figure 3. For , 57% of children notified were male and the ratio of males to females for birth defects was 1.37:1, i.e., 37% more male than female births were notified with a birth defect. This contrasts with a male to female ratio of 1.06:1 for all births. The percentage of male births with notified defects for the period was 6.5%; this was significantly higher (relative risk (RR) = 1.29 (95% CI ), p<0.0001), than for female births (5.1%). There are a number of birth defects that are specific to each sex (eg. undescended testis). Taking into account these sex-specific defects, there is still a greater prevalence of certain defects in males, for example pyloric stenosis, short segment Hirschsprung s disease and congenital talipes equinovarus. These defects are consistently found more often in males than in females. Table 3: Cases with birth defects by sex of child, SA Year of Birth Total Sex No. No. No. No. No. No. No. (%*) (%*) (%*) (%*) (%*) (%*) (%*) Male (6.6) (6.6) (6.8) (6.6) (6.1) (5.3) (6.5) Female (5.1) (5.3) (5.2) (5.1) (4.9) (4.1) (5.1) Indeterminate Not specified# Total (6.0) (6.2) (6.2) (6.0) (5.6) (4.9) (5.9) * Percentage of births of that category in that year # These were all terminations of pregnancy Figure 3: Cases with birth defects by sex of child, SA

14 Demographics Race of Mother The distribution of births with birth defects by mother s race is shown in Table 4 and Figure 4. There were significant differences between the prevalences of birth defects according to mother s race for 2010 (χ 2 = 14.95, p<0.001), which were also seen for the period (χ 2 = , p<0.0001). For , 94% of cases notified to the SABDR had a Caucasian mother. There was a significantly higher prevalence of birth defects for Caucasian mothers compared with Asian (RR = 1.39, 95% CI ), Aboriginal (RR = 1.18, 95% CI ) and Other race (RR = 1.36, 95% CI ) mothers. Table 4: Cases with birth defects by mother's race, SA Year of Birth Total Mother's Race No. No. No. No. No. No. No. (%*) (%*) (%*) (%*) (%*) (%*) (%*) Caucasian (6.1) (6.4) (6.5) (6.3) (5.8) (5.1) (6.0) Aboriginal (5.5) (5.0) (2.9) (3.6) (5.0) (4.3) (5.1) Asian (4.6) (4.7) (4.2) (3.9) (3.6) (3.1) (4.4) Other (4.6) (3.6) (5.2) (3.2) (5.3) (3.7) (4.4) Unspecified Total (6.0) (6.2) (6.2) (6.0) (5.6) (4.9) (5.9) * Percentage of births of that category in that year Figure 4: Cases with birth defects by mother s race, SA

15 Demographics Plurality The distribution of cases of birth defects by plurality is shown in Table 5 and Figure 5. Although 96% of cases notified for the 24 year period were singleton births, the percentage of cases among multiple births was 7.7%, and was significantly higher (RR = 1.31, 95% CI , p<0.0001) than among singleton births, with 5.9%. Certain birth defects are associated with twin pregnancies, in particular monozygotic twins. Examples of defects that occur more often in monozygotic twins are sirenomelia, VATER association, holoprosencephaly and anencephaly. Table 5: Cases with birth defects by plurality, SA Year of Birth Total Plurality No. No. No. No. No. No. No. (%*) (%*) (%*) (%*) (%*) (%*) (%*) Single (5.9) (6.1) (6.1) (5.9) (5.6) (4.8) (5.9) Multiple (7.7) (10.6) (7.8) (8.7) (7.5) (5.4) (7.7) Total (6.0) (6.2) (6.2) (6.0) (5.6) (4.9) (5.9) * Percentage of births of that category in that year Figure 5: Cases with birth defects by plurality, SA

16 Types of birth defects notified The diagnostic categories used by the Register for coding are those of the British Paediatric Association (BPA) Classification of Diseases, 1979, a 5-digit system compatible at the 4-digit level with the ninth revision of the International Classification of Diseases (ICD9). Its Congenital Anomaly codes are those in the range The BPA also provides codes outside this range for some disorders which are included in the Register s collection. For disorders without a BPA code the Register uses the ICD9 classification. We anticipate a change in coding to the tenth revision of the International Classification of Diseases after a BPA-ICD10AM system has been established nationally. The prevalence of birth defects per 1,000 total births for major diagnostic groupings (i.e. not all birth defects) are provided in Figure 6. The most commonly reported birth defects between 1986 and 2010 were Urogenital abnormalities with 16.8 per 1,000 births. In Table 6 we present the number of cases with specified birth defects by diagnostic category. Children with multiple defects will appear in more than one category. For example, a child with trisomy 18 who has spina bifida will appear in Chromosome defects and also under Nervous system defects and hence the number of cases in each body system total does not necessarily equal the sum of the individual defects listed under it. Within a specific category, e.g. Nervous system, the total may be smaller than the number obtained by adding together cases with anencephaly, spina bifida and encephalocele. This is because some cases of neural tube defects have more than one lesion, for example the combination of spina bifida and anencephaly. Figures 7.1 to 7.11 provide trends in selected birth defects 1986 to Figure 6: Cases with birth defects by major diagnostic category (prevalence per 1,000 births) C0,=DE==3-," >,)9*34"4?4/,=" 7<)*=*4*=01" :04/)*.-/,4;-01" 70)8.* )" *46,1,/01" ()*+,-./01"!FH" 'F$" 'FI" $F'" $F#" %FH" '#F'" '%FG" '%F&"!" #" $" %" &" '!" '#" '$" '%" '&"!"#$#%&$'%()))%*+',-#% 7

17 Types of birth defects notified Table 6: Cases with specified birth defects by diagnostic category, SA Year of Birth Total Diagnostic Category No. No. No. No. No. No. No. per (BPA Code) (per 1000*) (per 1000*) (per 1000*) (per 1000*) (per 1000*) (per 1000*) 1000* Nervous System ( ) (4.1) (4.4) (4.4) (4.1) (4.9) (3.7) Neural tube defects Anencephaly Spina bifida Encephalocele Microcephaly Congenital hydrocephalus Cardiovascular ( ) (12.2) (11.2) (12.4) (13.0) (11.3) (9.4) Transposition of great vessels Tetralogy of Fallot Ventricular septal defect Atrial septal defect Hypoplastic left heart syndrome Patent ductus arteriosus Coarctation of aorta Respiratory ( ) (1.7) (1.4) (1.9) (2.0) (1.9) (1.5) Pulmonary hypoplasia/dysplasia Gastrointestinal ( ) (6.6) (6.5) (6.8) (6.5) (5.7) (5.6) Cleft palate Cleft lip Cleft lip with cleft palate Tracheo-oesophageal fistula, oesophageal atresia & stenosis Pyloric stenosis Rectal/anal atresia & stenosis Hirschsprung disease Urogenital ( ) (17.3) (16.0) (16.1) (16.8) (14.6) (12.4) Undescended testicle Hypospadias Renal agenesis & dysgenesis Vesico-ureteric reflux * Prevalence per 1,000 total births 8

18 Types of birth defects notified Table 6: Cases with specified birth defects by diagnostic category, SA Year of Birth Total Diagnostic Category No. No. No. No. No. No. No. per (BPA Code) (per 1000*) (per 1000*) (per 1000*) (per 1000*) (per 1000*) (per 1000*) 1000* Musculoskeletal ( ) (16.6) (16.2) (16.1) (15.4) (15.3) (13.7) Developmental dysplasia of hip Talipes equinovarus Polydactyly Syndactyly Reduction deformity of limbs Diaphragmatic hernia Exomphalos Gastroschisis Achondroplasia Osteogenesis imperfecta Chromosome ( ) (3.8) (6.0) (5.4) (5.8) (6.3) (5.0) Down syndrome Trisomy Trisomy Turner syndrome Metabolic ( ) (1.4) (2.1) (1.4) (1.4) (1.7) (1.0) Congenital hypothyroidism Phenylketonuria Galactosaemia Albinism Cystic fibrosis Other metabolic Haematological/Immune ( ) (0.5) (0.5) (0.5) (0.6) (0.5) (0.2) Haemolytic anaemias Thalassaemias Coagulation defects Other selected Congenital syphilis syndrome Congenital rubella syndrome Fetal alcohol syndrome Non-immune fetal hydrops Haemangioma Lymphangioma Anotia/Microtia * Prevalence per 1,000 total births 9

19 Trends in selected birth defects, SA Figure 7.1: Prevalence of neural tube defects, SA There was a significant downward trend in the prevalence of all neural tube defects for the period (Poisson regression, p<0.0001), and may be due to the increased use of periconceptional folic acid. However, a slowing of the downward trend occurred in 2009 and 2010 due to an increase in neural tube defect cases. After investigation*, it is reasonable to conclude that this increase in cases of neural tube defects is due to chance, although the need to improve universal health promotion messages regarding periconceptional folic acid supplementation in pregnancy is recognised. *Flood L, Scheil W, Nguyen A, Sage L, Scott J. An increase in neural tube defect notifications, South Australia, Western Pacific Surveillance and Response 2013; 4(2): Figure 7.2: Prevalence of anencephaly, SA There was a significant downward trend in the prevalence of anencephaly for the period (Poisson regression, p=0.0059). This downward trend may be due to the increased use of periconceptional folic acid. 10

20 Trends in selected birth defects, SA Figure 7.3: Prevalence of spina bifida, SA There was a significant downward trend in the prevalence of all spina bifida for the period (Poisson regression, p= ). This downward trend may be due to the increased use of periconceptional folic acid. Figure 7.4: Prevalence of total cleft lip, SA No significant trend was seen in the prevalence of total cleft lip (cleft lip alone and cleft lip with cleft palate) for the years (Poisson regression, p=0.95). 11

21 Trends in selected birth defects, SA Figure 7.5: Prevalence of tetralogy of Fallot, SA No significant trend was seen in the prevalence of tetralogy of Fallot for the years , (Poisson regression, p=0.61). Figure 7.6: Prevalence of transposition of the great vessels, SA There was no significant trend in the prevalence of transposition of great vessels over the period (Poisson regression, p=0.24). 12

22 Trends in selected birth defects, SA Figure 7.7: Prevalence of coarctation of the aorta, SA No significant trend was seen in the prevalence of coarctation of the aorta for the years , (Poisson regression, p=0.79). Figure 7.8: Prevalence of developmental dysplasia of the hip, SA There was a significant downward trend in the prevalence of developmental dysplasia of the hip over the period (Poisson regression, p<0.014), but the prevalence appears to be relatively stable from 1995 onwards. 13

23 Trends in selected birth defects, SA Figure 7.9: Prevalence of hypospadias, SA There was a significant upward trend in the five year prevalence of hypospadias for the years (Poisson regression, p<0.0001). From 1995, validation reviews between the SABDR and hospital data led to improved ascertainment and validation of cases not recorded at birth and undergoing surgery at a later date. There was no significant trend for the one year prevalence of hypospadias. Figure 7.10: Prevalence of renal agenesis/dysgenesis, SA No significant trend was seen in the prevalence of renal agenesis/dysgenesis for the years , (Poisson regression, p=0.5). 14

24 Trends in selected birth defects, SA Figure 7.11: Prevalence of Down syndrome, SA Over the period , there was a significant increasing trend in the prevalence of Down syndrome (Poisson regression, p<0.0001). In the past, this increase has been attributed to increasing maternal age. However, even after adjustment for maternal age (using Poisson regression with cubic splines) the prevalence of Down syndrome still increases by 1.03% (95% CI 0.12% to 1.96%) every year. This indicates that other factors, in addition to maternal age, may be influencing the prevalence of Down syndrome. The risk of a future pregnancy being affected by Down syndrome is known to be increased for women who have already had a Down syndrome pregnancy *, and this could be an influencing factor. *De Souza, E, Halliday J, Chan A, Bower C, Morris J. Recurrence risks for Trisomies 13, 18 and 21. Am J Med Genetics Part A 149A: (2009) Figure 7.12: Incidence of Down syndrome by maternal age, SA As demonstrated by this figure, there is an exponential increase in the risk of Down syndrome with increasing maternal age. 15

25 Sentinel defects A number of readily identifiable defects have been chosen as sentinel defects for monitoring purposes by the International Clearinghouse for Birth Defects Monitoring Systems. Figure 8 and Table 7 present sentinel defects by CURB region for the period The totals for individual defects may be less than those shown in Table 6 as births to women who are interstate residents have been excluded from this table. This tabulation is an important tool for detecting regional and temporal clusters of birth defects. The SABDR monitors the occurrence of defects over time and by geographical area in this way. The Register assesses the significance of variations in prevalence by comparing the observed and expected numbers for each region using the Poisson distribution. The prevalence of Down syndrome in the Central Eastern Region between 1986 and 2010 was again significantly greater than in the rest of South Australia (RR = 1.49, 95% CI , p<0.001). This was shown to be related to the older age of mothers in that region. After adjustment for maternal age, no significant difference was seen (Mantel-Haenszel RR = 1.06, 95% CI , p=0.49). There were no other significant regional increases in prevalence (p<0.01) between 1986 and Figure 8: Prevalence of sentinel defects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otal cleft lip includes cleft lip with or without cleft palate 16

26 Sentinel defects Table 7: Cases of sentinel defects by CURB region, SA CURB Region Central North Central West Central East Central South Yorke & Low Nth Murray Lands South East North Eyre Total % State Births 28.8% 13.0% 15.0% 22.0% 2.7% 4.7% 4.7% 6.3% 2.6% 100% No. No. No. No. No. No. No. No. No. No. (per 1000*) (per 1000*) (per 1000*) (per 1000*) (per 1000*) (per 1000*) (per 1000*) (per 1000*) (per 1000*) (per 1000*) Anencephaly (0.63) (0.80) (0.63) (0.64) (0.77) (0.62) (0.49) (0.83) (0.72) (0.67) Spina bifida (0.77) (0.99) (0.76) (0.75) (0.61) (0.93) (0.76) (0.93) (0.96) (0.81) Encephalocele (0.17) (0.13) (0.13) (0.12) (0.23) (0.04) (0.13) (0.13) (0.16) (0.14) Hydrocephalus (0.82) (0.80) (0.80) (0.92) (0.61) (0.75) (0.54) (0.80) (0.56) (0.80) Cleft palate (1.10) (1.01) (0.84) (0.93) (0.69) (0.93) (1.03) (0.80) (1.29) (0.97) Total cleft lip# (1.23) (0.86) (1.07) (1.14) (1.38) (1.15) (1.08) (1.16) (1.29) (1.13) Tracheooesophageal fistula, atresia & stenosis (0.42) (0.37) (0.51) (0.33) (0.38) (0.40) (0.22) (0.43) (0.32) (0.39) Ano-rectal atresia & stenosis (0.53) (0.52) (0.59) (0.51) (0.38) (0.49) (0.49) (0.53) (0.40) (0.52) Hypospadias (4.16) (3.72) (3.61) (3.69) (4.06) (4.26) (3.54) (3.82) (4.42) (3.88) Renal agenesis & dysgenesis (0.50) (0.67) (0.63) (0.57) (0.69) (0.58) (0.40) (0.80) (0.24) (0.57) Limb reduction defects (0.83) (0.73) (0.76) (0.73) (1.15) (1.24) (0.72) (1.03) (0.80) (0.82) Diaphragmatic hernia (0.32) (0.37) (0.38) (0.34) (0.54) (0.53) (0.40) (0.60) (0.48) (0.38) Exomphalos (0.34) (0.36) (0.39) (0.38) (0.46) (0.31) (0.36) (0.60) (0.48) (0.38) Gastroschisis (0.29) (0.26) (0.13) (0.13) (0.08) (0.35) (0.22) (0.43) (0.16) (0.23) Transposition of great vessels (0.56) (0.71) (0.58) (0.76) (0.69) (0.67) (0.54) (0.43) (0.56) (0.63) Hypoplastic left heart (0.26) (0.34) (0.28) (0.32) (0.31) (0.13) (0.40) (0.23) (0.32) (0.29) Down syndrome (1.74) (2.04) (2.79) (2.27) (2.22) (1.77) (1.57) (1.03) (1.21) (2.00) Anotia & Microtia (0.12) (0.24) (0.14) (0.16) (0.08) (0.00) (0.18) (0.07) (0.16) (0.14) Total (13.79) (13.90) (13.86) (13.61) (13.56) (14.02) (12.16) (13.28) (13.02) (13.65) * Prevalence per 1,000 total births in region; # cleft lip with or without cleft palate 17

27 Deaths associated with birth defects In Table 8, the number of deaths associated with birth defects is listed by death category. Note that the birth defect is not necessarily the cause of death. In 2010, spontaneous stillbirths with birth defects represented 21% of all spontaneous stillbirths in South Australia and neonatal deaths with birth defects represented 34.1% of all neonatal deaths in the same period. Overall, for the period , spontaneous stillbirths with birth defects represented 12.1% of all spontaneous stillbirths, whilst neonatal deaths with birth defects represented 30.9% of all neonatal deaths. Figure 9 shows deaths associated with birth defects for the years by category of death. The different death categories are mutually exclusive. For example, the stillbirth category does not include terminations of pregnancy 20 weeks gestation. In the category termination of pregnancy <20 weeks gestation, the Register distinguishes between first and second trimester diagnoses. Some notifications specify whether testing has been by chorionic villus sampling or amniocentesis. Otherwise, classification into these two groups is based on gestation. At a gestation of 14 weeks, diagnosis is assumed to be via chorionic villus sampling or ultrasound. At a gestation of > 14 weeks, diagnosis is assumed to be via amniocentesis or ultrasound. Figure 9: Deaths associated with birth defects by death category, SA

28 Deaths associated with birth defects Table 8: Deaths associated with birth defects, SA Year of Birth Total Death Category No. No. No. No. No. No. No. (%*) (%*) (%*) (%*) (%*) (%*) (%*) Post Neonatal Death (death of a liveborn infant between 28 (6.9) (4.8) (3.1) (4.7) (3.9) (3.5) (6.1) days of age and the first birthday) Neonatal Death (death of a liveborn infant before 28 days (14.5) (8.5) (7.8) (6.2) (7.8) (7.4) (12.7) of age) Stillbirth (spontaneous fetal death 20 weeks) (10.0) (13.2) (9.3) (7.3) (8.7) (12.4) (10.0) Termination of Pregnancy ( 20 weeks) (20.0) (24.3) (27.5) (33.2) (24.8) (21.3) (21.6) Termination of Pregnancy (< 20 weeks) Diagnosis by chorionic villus sampling and/or ultrasound in first (8.9) (13.2) (19.7) (19.7) (20.9) (19.3) (11.4) trimester Diagnosis by amniocentesis, cordocentesis and/or ultrasound after (39.8) (36.0) (32.6) (29.0) (34.0) (36.1) (38.2) All Termination of Pregnancy (any gestation) (68.7) (73.5) (79.8) (81.9) (79.6) (76.7) (71.2) Total * Percentage of total deaths associated with birth defects in that year 19

29 Sources of notification The sources of notification for cases born in are provided in Figure 10. As outlined earlier, each case may be notified by more than one source and considerable checking is required by the Register to validate the information. Notifications from the Pregnancy Outcome Statistics Unit are obtained from all obstetric units as well as homebirth midwives in South Australia. Figure 10: Sources of notification, SA : Total notifications received* *Each case may have multiple notifications Birth defects detected / notified after discharge from the birth hospital Table 9 and Figure 11 use diagnostic categories to show the number and proportion of cases of birth defects in which were detected and notified after discharge from the birth hospital. Over 50% of cardiovascular, urogenital, metabolic and haematological/immune defects were notified after discharge from the birth hospital. The value of the Register in collecting later diagnosed defects is clearly illustrated by the proportions of cases in these latter categories, especially for earlier birth cohorts where collection has been of longer duration. The use of the Integrated South Australian Activity Collection (ISAAC), which is an admitted patient morbidity data collection, largely contributes to the validation of cases by SABDR staff, and this is reflected in the majority of cases being notified from the Women s and Children s Hospital as shown in Figure 6. Examples of birth defects that are commonly notified after discharge form the birth hospital are ventricular septal defects, vesico-ureteric reflux, craniosynostosis and pyloric stenosis. 20

30 Birth defects detected / notified after discharge from the birth hospital Table 9: Cases with birth defects notified after discharge from the birth hospital by major diagnostic category, SA Year of Birth Total Diagnostic Category No. No. No. No. No. No. No. (%*) (%*) (%*) (%*) (%*) (%*) (%*) Nervous System (31.0) (31.3) (33.3) (28.4) (23.7) (16.2) (30.1) Cardiovascular (55.3) (51.9) (47.1) (44.6) (40.4) (31.7) (53.0) Respiratory (18.2) (15.4) (27.0) (5.1) (13.5) (6.5) (17.2) Gastrointestinal (42.1) (40.7) (32.8) (32.6) (29.2) (27.4) (40.2) Urogenital (60.7) (65.4) (55.2) (55.1) (52.6) (29.4) (59.2) Musculoskeletal (31.8) (32.2) (33.9) (31.9) (28.6) (24.7) (31.6) Chromosomal (11.9) (8.8) (10.3) (8.7) (6.4) (3.0) (10.7) Metabolic (66.8) (72.5) (59.3) (55.6) (52.9) (25.0) (64.4) Haematological/ Immune Disorders (62.8) (66.7) (88.9) (90.9) (50.0) (60.0) (64.6) * Percentage of total cases per category, per year Figure 11: Percentage of cases with birth defects notified after discharge from the birth hospital by diagnostic category, SA >I<7/7A7/-8" #!J)" G.AH9<-57<F" #)J$" E.<@72A"AFA5./" 42A:287AD.8.5-8" %!J#" %#J(" B-A5<7935.AC3-8" &!J$" >-<?97@-A:28-<" '%J!" ;<7=.395-8" '+J$" :",-./01//23." (&J&" (&J("!" #!" $!" %!" &!" '!" (!" )!" *!" +!" #!!"!"#$"%&'(") 21

31 Publications and presentations For a full listing of publications and presentations utilising data from the SA Birth Defects Register please refer to our website: Publications Davies MJ, Moore VM, Willson KJ, Van Essen P, Priest K, Scott H, Haan EA, Chan A. Reproductive technologies and the risk of birth defects. N Engl J Med 2012; 366(19): McMichael GL, MacLennan AH, Gibson CS, Alvino E, Goldwater PN, Haan EA, Dekker GA for the Australian Collaborative Cerebral Palsy Research Group. Cytomegalovirus and Epstein-Barr virus may be associated with some cases of cerebral palsy. Journal of Maternal-Fetal and Neonatal Medicine Early Online 1-4. O Callaghan ME, MacLennan AH, Gibson CS, McMichael GL, Haan EA, Broadbent JL, Goldwater PN, Painter JN, Montgomery GW, Dekker GA for the Australian Collaborative Cerebral Palsy Research Group. Fetal and Maternal Candidate Single Nucleotide Polymorphism Associations With Cerebral Palsy: A Case-Control Study. Pediatrics 2012; 129:2 e414-e423. McMichael GL, Highet AR, Gibson CS, Goldwater PN, O Callaghan ME, Alvino E, MacLennan AH. Comparison of DNA extraction methods from small samples of newborn screening cards suitable for retrospective perinatal viral research. Journal of Biomolecular Techniques 2011; 22(1): 5-9. O Callaghan ME, MacLennan AH, Gibson CS, McMichael GL, Haan EA, Broadbent JL, Goldwater PN, Dekker GA for the Australian Collaborative Cerebral Palsy Research Group. Epidemiologic Associations with Cerebral Palsy. Obstetrics and Gynecology 2011; 118(3): Gibson CS, MacLennan AH, Haan EA, Priest K, Dekker GA. Fetal MBL2 haplotypes combined with viral exposure are associated with adverse pregnancy outcomes. J Mater-Fet Neonat Med 2011; 24(6): (EPub Dec ). Sawyer MG, Bittman M, La Greca AM, Crettenden AD, Borojevic N, Raghavendra P, Russo R. Time demands of caring for children with cerebral palsy: what are the implications for maternal mental health? Dev Med Child Neurol 2011; 53(4): Azzopardi T, van Essen P, Cundy PJ, Tucker G, Chan A. Late diagnosis of developmental dysplasia of the hip: an analysis of risk factors. J Pediatr Orthop B 2011; 20(1): 1-7. O Callaghan ME, MacLennan AH, Gibson CS, McMichael GL, Haan EA, Broadbent J, Priest K, Goldwater PN, Dekker GA for the Australian Collaborative Cerebral Palsy Research Group. The Australian Cerebral Palsy Research Study - Protocol for a National Collaborative Study investigating genomic and clinical associations with cerebral palsy. J Paed Child Health 2011; 47(3): Zarrinkalam R, Russo RN, Gibson CS, van Essen PB, Peek AK, Haan EA. Cerebral palsy or not cerebral palsy? A review of cerebral palsy diagnoses in a cerebral palsy register. Pediatric Neurology 2010; 42(3): De Souza E, Halliday J, Chan A, Bower C, Morris JK. Recurrence risk for Trisomies 13, 18 and 21. American Journal of Medical Genetics 2009; 149A(12): Russo RN, Atkins R, Haan E, Crotty M. Upper limb orthoses and assistive technology utilization in children with hemiplegic cerebral palsy recruited from a population register. Dev Neurorehabil 2009; 12(2): Djukic M, Gibson CS, MacLennan AH, Goldwater PN, Haan EA, McMichael GL, Priest K, Dekker GA et al. Genetic susceptibility to viral exposure may increase the risk of cerebral palsy. Australian and New Zealand Journal of Obstetrics and Gynaecology 2009; 49: Rice J, Russo R, Halbert J, van Essen P, Haan E. Motor function in five-year-old children with cerebral palsy in the South Australian population. Dev Med Child Neurol 2009; 57(7): McMichael GL, Gibson CS, Goldwater PN, Haan EA, Priest K, Dekker GA, MacLennan AH. Association between Apolipoprotein E genotype and cerebral palsy is not confirmed in a Caucasian population. Human Genetics 2008; 124: Gibson CS, MacLennan AH, Goldwater PN, Dekker GA. The antenatal causes of cerebral palsy genetic and viral associations. Fetal and Maternal Medicine Review 2008; 19: Gibson CS, MacLennan AH, Dekker GA, Goldwater PN, Sullivan TR, Munroe DJ, Tsang S, Stewart C, Nelson KB. Candidate genes and cerebral palsy: population-based study. Pediatrics 2008; 122: Gibson CS, MacLennan AH, Goldwater PN, Haan EA, Priest K, Dekker GA. Mannose-binding lectin haplotypes may be associated with cerebral palsy only after perinatal viral exposure. Am J Obstet Gynecol 2008; 198: 509 e1-e8. 22

32 Publications and presentations Gibson CS, Goldwater PN, MacLennan AH, Haan EA, Priest K, Dekker GA. Fetal exposure to herpesviruses may be associated with pregnancy-induced hypertensive disorders and preterm birth in a Caucasian population. BJOG, 2008; 115: Khoo NS, van Essen PB, Richardson M, Robertson T. Effectiveness of prenatal diagnosis of congenital heart defects in South Australia: A population analysis ANZJOG Dec 2008, 48 (6): Chan AC, van Essen P, Scott H, Haan EA, Sage L, Scott J, Gill TK, Nguyen AM. Folate awareness and the prevalence of neural tube defects in South Australia, Med J Aust. 2008; 189(10): Presentations ME O Callaghan for the South Australian Cerebral Palsy Research Group. Genetic and Clinical Associations with Cerebral Palsy. Invited Presentation, Department of Neonatology, KK Hospital, Singapore 17 th October ME O'Callaghan, AH MacLennan, CS Gibson, GL McMichael, EA Haan, JL Broadbent, PA Baghurst, PN Goldwater, GA Dekker for the South Australian Cerebral Palsy Research Group. Genetic and Clinical Contributions to Cerebral Palsy: A Multivariable Case-Control Analysis. 4th International Conference of Cerebral Palsy 2012, October 10-14th, 2012 Pisa, Italy. ME O Callaghan for the South Australian Cerebral Palsy Research Group. Epidemiological and Genetic Associations with Cerebral Palsy. Invited Presentation, Alastair MacLennan Scientific Symposium, Adelaide, 2 nd March CS Gibson for the South Australian Cerebral Palsy Research Group. Beginning to understand the causes of cerebral palsy. Invited Presentation, Alastair MacLennan Scientific Symposium, Adelaide 2 nd March ME O Callaghan, AH MacLennan, EA Haan, GA Dekker for the South Australian Cerebral Palsy Research Group. Cerebral Palsy Case study of a complex data set. Invited presentation, QMB 2011 (Bioinformatics Satellite). September 1-2, Queenstown, New Zealand. ME O Callaghan, AH MacLennan, CS Gibson, GL McMichael, EA Haan, JL Broadbent, K Priest, PN Goldwater, JN Painter, GW Montgomery, PA Baghurst, GA Dekker for the Australian Collaborative Cerebral Palsy Research Group. Epidemiological and Genetic Associations with Cerebral Palsy Studies in a Large Australian Cohort. Australian Society for Medical Research Conference, SA Branch, Adelaide Australia, 2011 (Ross Wishart Award Finalist oral presentation). ME O Callaghan, AH MacLennan, CS Gibson, GL McMichael, EA Haan, JL Broadbent, K Priest, PN Goldwater, JN Painter, GW Montgomery, PA Baghurst, GA Dekker for the Australian Collaborative Cerebral Palsy Research Group. The Australian Cerebral Palsy Research Study Epidemiological and Genetic Associations with Cerebral Palsy. Perinatal Medicine 2011 Conference, Harrogate UK (Published abstract in Archives of Paediatric and Child Disease). J Rice, RN Russo, R Zarrinkalam, P van Essen, PM Chern. Motor function is not stable between 5 and 10 years of age in children with cerebral palsy. Developmental Medicine and Child Neurology 2010; 52 (Sup 5):19. (Published abstract, American Academy of Cerebral Palsy and Developmental Medicine 64 th Annual Meeting, Washington DC, USA 2010 oral presentation). Blair E, McIntyre S, Smithers-Sheedy H, Reid S, Gibson C, van Essen P, et al. Findings from the inaugural Australian Cerebral Palsy Register (ACPR) Report. Developmental Medicine and Child Neurology 2010; 52 (Sup 5):3. (Published abstract, American Academy of Cerebral Palsy and Developmental Medicine 64th Annual Meeting, Washington DC, USA. McMichael GL, Gibson CS, Goldwater PN, Haan EA, Priest K, O Callaghan ME, MacLennan AH. Genetic and environmental risk factors that contribute to cerebral palsy. Developmental Medicine and Child Neurology 2010; 52 (Sup 2):6. (Published abstract of award winning paper keynote session Australasian Academy of Cerebral Palsy and Developmental Medicine 5th Biennial Conference, New Zealand). Blair E, Badawi N, Bunyard J, Grood JD, Delacy M, Edwards K, Ewens C, Flett P, Gibson CS, Gibson N, Haan E, et al. A profile of cerebral palsy in Australia. Developmental Medicine and Child Neurology 2010; 52 (Sup 2):37. (Published abstract, Australasian Academy of Cerebral Palsy and Developmental Medicine 5th Biennial Conference, New Zealand). R Zarrinkalam, R Russo, CS Gibson, PB van Essen, A Peek, EA Haan, Inaccuracy rate of the diagnosis of cerebral palsy in South Australian Cerebral Palsy Register. 3rd International Cerebral Palsy Conference, Sydney Australia, 2009 (oral presentation). R Russo, R Atkins, EA Haan, M Crotty. Use of upper limb orthoses, adaptive equipment and therapy in a community based sample of children with hemiplegic cerebral palsy. 3rd International Cerebral Palsy Conference, Sydney Australia, 2009 (oral presentation). 23

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