The Victorian Congenital Anomalies Register (VCAR)

Diana Stubbs

Liaison Midwife

Statistic! Numbers of Congenital Anomalies notifications by Maternal & Child

Health Nurses

340 346

629

224

79 0

100

200

300

400

500

600

700

1999-2000 2005-06 2007-09 2013-14 2014-15

Nu

mb

ers

Years

Background

•The Victorian Perinatal Data Collection

(VPDC) collects information on all livebirths,

stillbirths and neonatal deaths where a

congenital anomaly may have been

identified.

•VPDC is responsible to the Consultative

Council on Obstetric and Paediatric Mortality

and Morbidity (CCOPMM)

•CCOPMM is the advisory body to the

Health Minister on maternal, perinatal and

paediatric morbidity and mortality

What is a Congenital Anomaly?

A ‘congenital anomaly’ is also called

•birth defect

•congenital malformation

•congenital disorder

Any abnormality of prenatal origin, either present following conception or

occurring before the end of pregnancy.

This includes structural, functional, genetic, chromosomal and biochemical

abnormalities.

These can be detected before birth, at birth, or in later years of life

What (possibly) causes a congenital anomaly? Unknown (65-75%) - polygenic, multifactorial, spontaneous errors in development, synergistic interactions of teratogens

Genetic (15-25%) eg. extra chromosome, new mutation, inherited

Environmental (10%)

* maternal conditions (4%) - alcoholism, diabetes, PKU, nutritional deficits

* infectious agents (3%) - rubella, toxoplasmosis, CMV

* mechanical problems -deformations (1-2%) - amniotic band constrictions, umbilical cord

* chemicals (<1%), drugs, radiation, hyperthermia

Brent RL. Pediatrics 2004: 113;957-968

Examples of congenital anomalies collected

• Chromosomal anomalies eg. Down Syndrome

• Structural defects eg. anencephaly, missing fingers, hypospadias

• Inborn errors of metabolism eg. cystic fibrosis

• Haematological disorders eg. thalassaemia

• Congenital infections eg. CMV or rubella

• Neoplasms eg. cystic hygroma

• Developmental delay (of congenital origin only)

Why is it important to monitor congenital anomalies?

• Major cause of perinatal/infant deaths and hospitalisation

• Early diagnosis may improve chances of survival

• Correct diagnosis for counselling (e.g.. recurrence risk)

• Prevalence and survival data

(what is normal and what is abnormal)

VCAR – What do we collect?

The VCAR collects data on all congenital anomalies for:

• Live births (including neonatal deaths)

• Stillbirths

• Terminations of pregnancy

occurring since January 1, 1982 and was irrespective of age at diagnosis,

before 18 years of age.

From 2013 the scope of the collection has decreased to 6 years of age

(Reference: World Health Organization, and Centers for Disease Control and Prevention.

"Birth defects surveillance: a manual for programme managers." (2014).)

How do we collect information

Congenital Anomalies: Voluntary notification from multiple sources. All

records linked to VPDC data. Will eventually become mandatory using the

legislation in the Public Health and Wellbeing Act 2008

Terminations for malformations (before 20 weeks gestation) : separate

notification form from medical records departments at all hospitals with

maternity services

Where does the data come from?

In 2015-16:

Birth forms – All electronic (6,835) - 62.1%

Hospital sources (1,124) - 10.7%

M&CHN (79) - 0.7%

Other (19) - 0.2%

Cytogenetic reports (2898) - 26.3%

Notifications by M&CHN

4.7

4 4.4

2.8

0.7

0

1

2

3

4

5

1999-2000 2005-06 2007-09 2013-14 2014-15

Percent of all notifications

Percent

Objectives of VCAR

1. Determine how often congenital anomalies are occurring and

identify changing health service needs (prevalence and survival data).

Congenital anomalies in Victoria: 1983-2016

0.0%

1.0%

2.0%

3.0%

4.0%

5.0%

6.0%

19

83

19

84

19

85

19

86

19

87

19

88

19

89

19

90

19

91

19

92

19

93

19

94

19

95

19

96

19

97

19

98

19

99

20

00

20

01

20

02

20

03

20

04

20

05

20

06

20

07

20

08

20

09

20

10

20

11

20

12

20

13

20

14

20

15

20

16

Pe

rce

nta

ge

of

se

lec

ted

pre

gn

an

cie

s

Years

Incidence of congenital anomalies from 1983 to 2016

Top Ten Congenital Anomalies: 2005-2016

2005/06 2007/09 2013/14 2015/16

Hypospadias (male) 1/135 1/123 1/234 1/190

Renal pelvis defects 1/250 1/230 1/357 1/383

Congenital Dislocation of Hip 1/364 1/332 1/579 1/823

Trisomy 21 1/339 1/297 1/803 1/331

Ventricular septal defect 1/311 1/326 1/588 1/593

Neural tube defects (comb) 1/788 1/910 1/1700 1/1831

Trisomy 18 1/1,190 1/922 1/3041 1/1294

Hydrocephalus 1/1,235 1/1,131 1/1296 1/3326

Cleft lip & palate 1/1,250 1/1,556 1/3294 1/2296

Renal agenesis/dysgenesis 1/1,471 1/1,556 1/2166 1/2547

Prevalence of T21 per 1000 pregnancies 1998-2016

0.00

0.50

1.00

1.50

2.00

2.50

3.00

3.50

4.00

Congenital anomalies

Congenital anomalies

0

0.5

1

1.5

2

2.5

0.0

0.5

1.0

1.5

2.0

2.5

Rat

e p

er 1

,000

pre

gnan

cies

Year

Victoria

Expected

Linear (Victoria)

Rate of all neural tube anomalies in Victoria since folic acid fortification to cereal and bread in 1997

Notifying us

Notification Form.

Complete form online:

https://hnb.dhs.vic.gov.au/eForms/eForms.nsf/FormsForPreview/

3E5F862A69543DB5CA25768E001B5352?OpenDocument

Objectives of VCAR

2. Respond to requests for data from:

One of our many functions is to respond to data requests from people

involved in research and service provision.

Organisations responsible for planning and providing health care

facilities for those with congenital anomalies, or who provide

information to those concerned about having a baby with a congenital

anomaly

Requests for unpublished information should complete a ‘Request for data’ form at this link from our homepage:

https://hnb.dhs.vic.gov.au/eForms/eForms.nsf/FormsForPreview/3E5F862A69543DB5CA25768E001B535

2?OpenDocument

What do we do with the data?

3. Provide information through epidemiological research to increase

knowledge of aetiology and preventability of congenital anomalies

Research involving ART Increased risk of congenital anomalies, arising in the first 4 weeks of pregnancy, (blastogenesis ) after assisted reproductive technologies

BACKGROUND The reasons for increased congenital anomalies prevalence

following in-vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are

largely unknown.

Classification of congenital anomalies by pathology rather than organ system, and

examination of the role of embryo freezing and thawing may provide clues to the

mechanisms involved. This study aimed to investigate these two factors.

METHOD Data on 6946 IVF or ICSI singleton pregnancies were linked to perinatal

outcomes obtained from population-based data sets on births and congenital

anomalies occurring between 1991 and 2004 in Victoria, Australia. These were

compared with 20, 838 outcomes for singleton births in the same population,

conceived without IVF or ICSI. Congenital anomalies were classified according to

pathogenesis. (Haliday JL et al. Human reproduction. 2009 Oct 22:dep364.)

Research involving ART There was no strong evidence of risk differences between IVF and ICSI or

between fresh and thawed embryo transfer.

However, a specific group, blastogenesis congenital anomalies, were

markedly increased [adjusted OR 2.80, 95% CI: 1.63–4.81], with the increase

relative to the controls being significant for fresh embryo transfer (adjusted

OR 3.65; 95% CI: 2.02–6.59) but not for thawed embryo transfer (adjusted OR

1.60; 95% CI: 0.69–3.69).

CONCLUSION Our findings suggest that there is a specific risk of

blastogenesis congenital anomalies arising very early in pregnancy after

IVF or ICSI and that this risk may be lower with use of frozen-thawed

embryo transfer.

Beckwith-Wiedemann syndrome

1 in 15,000 - 1 in 70,000

Macroglossia

Pre/post natal overgrowth

Anterior abdominal wall defects

Neonatal hypoglycaemia

Ear pits/creases hemihypertrophy

Facial naeveus flammeus

Increased risk of abdominal tumours

IVF and Beckwith-Wiedemann syndrome

Aim: to determine whether there is an association between this congenital anomaly (a rare genetic overgrowth condition) and IVF

Method:All BWS children (cases) between 1983-2001, plus 4 controls per case from PDCU - record linkage to IVF databases

3% of births conceived by IVF in 2003, c/w 0.2% in 1983

Ethics approval from 6 organisations

Results

4/37 cases conceived by IVF = 10.8%

1/148 controls = 0.7%*

*0.7% average of 0.2% having IVF in 1983 to 3.0% in 2003

matched analysis (maternal age and baby date of birth)

Odds ratio = 16 (95% CI 1.8 - 143.1)

p value = 0.013

Objectives of VCAR

4. Assess effectiveness of primary prevention and screening for

congenital anomalies.

Role of the MCH Nurse in Notifying Defects to VCAR

Notify any congenital anomalies that are detected after the first week of life (eg cardiac anomalies).

Notify anomalies that may not have been reported from the hospital of birth.

Notify anomalies which may not require hospitalisation, but are treated by private paediatricians.

ie. Notify us of any children

you see in your Centre

with a Congenital Anomaly.

DON’T assume we already know about them

Practical Concerns for notifiers

Informing parents (beyond the perinatal period):

• If a parent objects

• Encourage the parent to ring the VCAR – 9096 2729

• Notify us with no names recorded but include: mother’s birthdate,

postcode, baby’s birth date, sex and birth anomaly.

Practical Concerns for notifiers

What to notify

Every suspected congenital anomaly

Practical Concerns for notifiers

If you suspect a cluster in your area contact the VPDC

either by phone and/or in writing. The Consultant

Epidemiologist will contact you to ascertain details, and to

undertake initial investigation, if it is warranted.

Publications CCOPMM Annual report 2015-2016

https://bettersafercare.vic.gov.au/reports-and-publications/victorian-perinatal-services-performance-indicators-2016-2017

Victorian Perinatal Services Performance Indicators Report 2015-2016

https://bettersafercare.vic.gov.au/reports-and-publications/victorian-perinatal-services-performance-indicators-reports

Koori Health counts: Koori Births in Victoria 2011-2012

https://www2.health.vic.gov.au/about/publications/data/Koori%20Health%20Counts%20201213

Congenital Anomalies in Victoria 2015-2016

https://bettersafercare.vic.gov.au/reports-and-publications/congenital-anomalies-in-victoria-2015-2016

Summary

•The VPDC collects data on all births, congenital anomalies and

deaths in Victoria - separate linked databases

•Confidentiality of individual persons and hospital sites assured

under the Public Health and Wellbeing Act 2008

•Congenital anomaly data collection requires major input from

midwives and M&CHN’s

•There are many ways in which the data is used - over and above

the public health aspects of routine monitoring and surveillance

Thank-you

diana.stubbs@safercare.vic.gov.au

perinatal.data@dhhs.vic.gov.au

https://bettersafercare.vic.gov.au/about-us/about-scv/councils/ccopmm