American Journal of Medical Genetics 72:3–10 (1997)
Use of Record Linkage Between a Statewide
Genetics Service and a Birth Defects/Congenital
Malformations Register to Determine Use of
Genetic Counselling Services
Jane Halliday,1* Odette Griffin,1 Agnes Bankier,2 Catherine Rose,2 and Merilyn Riley1
1
Perinatal Data Collection Unit, Department of Human Services, Melbourne, Australia
2
Victorian Clinical Genetics Service, Murdoch Institute, Royal Children’s Hospital, Parkville, Australia
The Birth Defects/Congenital Malforma-
tions Register of the Victorian Department
of Human Services contains detailed, confi-
dential information on over 2,000 babies
born with a birth defect each year in Victo-
ria, Australia, representing approximately
3% of the annual number of births. For 1991
and 1993, the type of anomaly was categor-
ised as warranting a high, moderate, or low
need of referral for genetic counselling, de-
pending on risk of recurrence and possible
genetic cause. The Victorian Clinical Genet-
ics Service at the Murdoch Institute, Mel-
bourne, offers free, centralised genetic
counselling services for the entire state.
A comparison of case records between the
two agencies has shown little difference in
overall use of genetic counselling between
1991 (17%) and 1993 (16%). Rate of uptake in
the ‘‘high need’’ category improved only
slightly during that period, from 40% in 1991
to 43% in 1993.
Utilization of genetic counselling services
did not vary disproportionately with moth-
er’s country of birth, but was higher for
older mothers. As was expected, rates were
highest when a baby was born at the only
hospital that provides on-site genetic coun-
selling services. Even where a statewide ge-
netic counselling service is in place, it is dis-
appointing that over half of those judged at
high need for genetic counselling are not
making use of this service. This study will
provide baseline information to which fu-
ture studies can be compared. Using the
same study methodology, it will be possible
to examine whether the uptake rate in-
*Correspondence to: Dr. Jane Halliday, Murdoch Institute,
Royal Children’s Hospital, Parkville, Victoria, 3052 Australia.
Received 2 February 1996; Accepted 21 March 1997
© 1997 Wiley-Liss, Inc.
creases in accordance with increased ge-
netic services. Am. J. Med. Genet. 72:3–10,
1997. © 1997 Wiley-Liss, Inc.
KEY WORDS: birth defects; congenital mal-
formations; genetic counsel-
ling
INTRODUCTION
In Victoria, more than 2,000 babies (>3% of all
births) are born each year with a birth defect [Riley and
Halliday, 1996]. Notifiable defects are defined as struc-
tural defects or chromosome abnormalities present at
birth. We also obtain information on inborn errors of
metabolism, haematological disorders, congenital in-
fections, neoplasms, and developmental delay. These
conditions are routinely reported from multiple sources
to the Birth Defects/Congenital Malformations Regis-
ter (BDCMR) at the Victorian Perinatal Data Collec-
tion Unit (PDCU). Data are collected on birth defects
present in live births, still births and terminations of
pregnancy, irrespective of the age at diagnosis. Diag-
noses made up to age 15 years are included in the
BDCMR. The main source is the perinatal statistics
form, which is used for mandatory registration of every
baby born in the state of at least 20 weeks’ gestation.
There is also information sought from perinatal death
certificates, autopsy reports, hospital inpatient and
outpatient listings, cytogenetic laboratories, and volun-
tary notification from maternal and child health nurses
and other professionals.
Because of the voluntary notification system, it has
been necessary to assess completeness of data collec-
tion by validation studies. This was done by obtaining
series of hospital records on children with birth defects
and determining whether they are recorded in the
BDCMR. A recent such study [Kilkenny et al., 1995]
showed that there was 100% ascertainment of chromo-
some anomalies; this is due to a close collaboration
with the five cytogenetic laboratories in Victoria; also,
there was 90% ascertainment of major structural de-
4 Halliday et al.
fects present at birth. In addition, a 12-year summary
report of birth defects in Victoria [Riley and Halliday,
1996] showed that there is an equal or higher birth
prevalence of many of the sentinel defects compared to
other reports [EUROCAT, 1995; International Clear-
inghouse, 1993], almost certainly reflecting a high level
of ascertainment.
Many birth defects have a recurrence risk or are
recognisable genetic disorders, making it desirable for
the parents to have genetic counselling. Such counsel-
ling aims to provide realistic estimates of recurrence
risk, independent of whether the parents plan another
pregnancy or not. A genetic counselling service should
give information on options pertaining to future repro-
duction and facilitate autonomous reproductive choice
[Chadwick, 1993; Clarke, 1993]. In case of other birth
defects, an attempted early, accurate diagnosis of a ge-
netic disorder or syndrome by a medical geneticist is
important for management and to alleviate parental
anxiety associated with lack of understanding and
knowledge.
The Victorian Clinical Genetics Service (VCGS) pro-
vides a statewide genetic counselling service at the
Royal Children’s Hospital, at two major obstetric
teaching hospitals, and, more recently, at several outer
metropolitan and country hospitals. Records on those
seen by one of the six medical geneticists or six genetic
counsellors are held in a central register at the Mur-
doch Institute. Therefore, it has been possible to link
records on babies (or fetuses) with birth defects re-
corded at the PDCU with those at the VCGS.
This study was set up to determine how often there
had been use of genetic counselling services by parents
after the birth of a baby with a defect. The birth defect
was categorised as carrying a high, moderate, or low
risk of recurrence or genetic cause and, therefore, war-
ranting referral to a genetics service at the same level
of importance, i.e., high, moderate, or low need.
A study of the use of genetic services for neural tube
defects in British Columbia [Sadovnick et al., 1987]
showed that utilization of services may be influenced
by factors that do not necessarily influence recurrence,
e.g., whether the infant was stillborn or live born. The
authors found that, when the infant was live born, ser-
vices were used more frequently than when the infant
was stillborn. Similar findings were made in The Neth-
erlands [Cornel et al., 1992], where the overall use of
genetic services after the birth of a baby with a defect
was 16.8%.
A small interview-based study [Hobus et al., 1995] on
why parents eligible for genetic counselling did or did
not seek it reported that knowledge of availability of
genetic counselling and recurrence risks were strong
indicators for uptake. However, there was evidence
that some couples did not want counselling or to deal
with the ‘‘burdensome’’ decision-making process in fu-
ture pregnancies. Some parents were seen to resist
counselling because of irrational fears and uncertain-
ties.
Other than these studies, there are few publications
to indicate, at the population level, how many parents
are seeking, or being given access to genetic counsel-
ling services after the birth of a malformed baby. Thus,
this study was begun to determine use of genetic coun-
selling services and whether the type of birth defect
was related to rate of utilization. Was there greater use
when there was a risk of recurrence, or when the ex-
pertise of a medical geneticist would be important in
the management of the infant? A comparison to cases
less likely to warrant referral was to be made.
We also wanted to look at a possible source of refer-
ral, that is, at the hospitals at which the babies were
born. In addition, we examined variables that might
have influenced rates, such as mother’s country of birth
and maternal age. These had been shown to be impor-
tant predictors of use of prenatal diagnostic testing in
Victoria [Halliday et al., 1995].
MATERIALS AND METHODS
Study Population
This study was undertaken with the use of the Birth
Defects/Congenital Malformations Register (BDCMR)
at the Perinatal Data Collection Unit (PDCU), and the
computerised Genetics File (GF) at the VCGS, located
at the Murdoch Institute, Royal Children’s Hospital.
All babies born with a defect in 1991 and 1993, and who
were registered at the BDCMR, were subjects of this
study. Conditions are classified using the British Pae-
diatric Association Classification of Diseases, compat-
ible with the ICD9. The ICD9 coding of birth defects is
a routine task performed independently of this study
by skilled medical record administrators and, when
necessary, a consultant medical officer.
The BDCMR collects data from multiple sources on
all defects found in live births, still births, and termi-
nations of pregnancy. Three isolated ‘‘minor birth de-
fects’’ were deleted from the database, i.e., inguinal
hernia, hydrocoele, and undescended testes. This ex-
clusion was done to prevent searching for referrals
when referral was not appropriate.
The GF has been in existence since the 1970s and
contains approximately 21,000 files with information
on families or individuals. Anyone who has been seen
by a member of the genetics team, at any one of the
clinics around the state, is entered into the GF system.
All GF data were included in the search, which allowed
for checking for utilization of genetic services that had
eventuated prior to the birth date of the baby under
review, because of a family history of a genetic disor-
der, advanced maternal age, or abnormality detected in
the current pregnancy.
Variables Selected
From the BDCMR and the linked perinatal data col-
lection at the PDCU, we selected variables available on
all of the 1991 and 1993 cases. The variables required
for the analysis and linkage with the data at the VCGS
were mother’s surname, mother’s first name, baby’s
surname, suburb, postcode, mother’s date of birth, ba-
by’s date of birth, hospital of baby’s birth, sex of baby,
and birth defect codes and descriptions. Maternal age
at delivery could be calculated from knowledge of the
mother’s date of birth and the baby’s date of birth.

Record Linkage
A three-tiered approach was used to match records
from the BDCMR database with records in the VCGS;
1) surname enquiry, enabling user to search by sur-
name; this screen also provides the first name and
postcode; 2) patient enquiry, providing further infor-
mation on address, date of birth, and information on
the relationship between family members; and 3) diag-
nosis screen, providing the diagnosis on the patient.
There was an attempted match with each record of a
birth defect to a record at the VCGS up to mid-1995. In
about 90 cases, the ‘‘hard copy’’ of the genetics file was
checked for information as whether the family had ac-
tually been seen for counselling, or if the baby had been
seen as a ward consult only, or if only a tissue sample
had been collected.
Coding
Every birth defect was assigned a code according to
whether or not the family needed genetic counselling.
These categories were 1) high need, because of a risk of
recurrence or for diagnosis of a genetically caused
anomaly, e.g., chromosomal abnormalities, single gene
defects, dwarfing conditions, and many of those with
multiple birth defects; 2) moderate need, e.g., cleft lip/
palate, neural tube defects; 3) low need, e.g., congenital
dislocated hip, obstructive defects of renal pelvis. Ap-
pendix A shows the details of the coding groups used.
The decision to assign a multiple birth defect to cat-
egory 1 or 2 depended on the pattern of birth defects
and the probability that this combination represents a
diagnosable syndrome. The coding system for this
study was developed at the PDCU by a medical officer
(C.R.) and medical geneticist (A.B.), who are both ex-
pert in recognising patterns of birth defects [POSSUM
Version 4, 1996] and genetic abnormalities. The re-
searcher who performed the record linkage (O.G.) was
blinded to this coding system in order to eliminate bias
in searching more extensively for cases assigned the
first code.
The 130 hospitals at which babies were born were
grouped into the following categories: 1) teaching hos-
pitals, 2) metropolitan private hospitals, 3) metropoli-
tan public hospitals, 4) country private hospitals, 5)
country public hospitals, 6) other (home births, inter-
state and overseas). In many cases, the baby would
have been transferred out of the hospital of birth to one
of the two major hospitals in which there was a paedi-
atric service.
It was difficult to categorise some metropolitan pub-
lic hospitals; many of these facilities cater to private
TABLE I. Need for Referral and Utilization Rates, 1991 and 1993
1991
Need for referral
High High Mod Low
Number in BDCMR 622 1,003 629
(row %) (27.6) (44.5) (27.9)
Use of VCGS 247 106 27
(column %) (39.7) (10.6) (4.3)
Genetic Counselling for Birth Defects 5
patients also. We could not determine from these hos-
pitals the number of public and private patients, be-
cause these data are not collected at the PDCU; there-
fore, public hospitals with private facilities were cat-
egorised as ‘‘metropolitan public.’’
Statistical Analysis
SPSS for Windows, Version 6.1, was used for the
production of descriptive statistics, which included fre-
quencies and cross tabulations. EpiInfo Version 5.0
was used for relative risk calculations, x2 tests, and
linear trend analysis.
RESULTS
In 1991, 2,253 babies and in 1993, 2,154 babies were
registered in the BDCMR. Using the detailed record-
linkage process between the BDCMR and the VCGS,
we attempted to match all but 72 cases with a birth
defect with cases in the VCGS genetics file system. The
72 unmatched cases were recorded in the BDCMR but
had insufficient identifying information, most being
terminations of pregnancy before 20 weeks of gesta-
tional age and without identified names.
Table I shows that most birth defects fell into the
moderate need category, 44.5% of 1991 and 47.2% of
1993 birth defects. In 1991, 622 of 2,253 (27.6%) cases
were in the high need category, and 25.6% of the 1993
cases were similarly categorised.
Table I also shows that the category of birth defect(s)
influenced the number of times the genetic service was
accessed. If an infant was born in 1991 with a defect(s)
categorised with a high need for referral, there was a
39.7% chance that the parents would be seen (within 5
years) by the VCGS. If the baby was born in 1993, there
was a 42.5% chance (within 3 years). This is not a sig-
nificant difference (relative risk 1.07; 95% confidence
interval 0.93–1.23). As the apparent need for referral
declines, the actual utilization rate declines corre-
spondingly to less than 5%.
Not included are 37 cases born in 1991 and 28 cases
born in 1993 that came to the attention of the VCGS,
either through ward consultation or through labora-
tory tests. These parents did not necessarily receive
genetic counselling.
It is important to note that most of the genetic ser-
vice use was within 3 years of birth; it was possible to
do only a 3 year follow-up for the 1993 babies (1993 to
1995, inclusive). Table II shows the proportion found
each year for the 1991 births.
Use of the genetic service prior to the birth of the
baby in the study year was counted in the total utili-
1993
Need for referral
Total High Mod Low Total
2,253 552 1,016 586 2,154
(100) (25.6) (47.2) (27.2) (100)
380 235 86 28 349
(16.9) (42.5) (8.5) (4.8) (16.2)
6 Halliday et al.

TABLE II. Timing of Use of Genetic Services
Use of the VCGS
by those in
Year of first appearance 1991 BDCMR
in VCGS register
Prior to birth of 1991 baby,
i.e., previous family history
or abnormality detected
in pregnancy
1991
1992
1993
1994
1995
Unknown
zation rate. The cases seen prior to the birth of the baby
in the study period could be divided into three catego-
ries: mother seen in the current pregnancy because of a
prenatally diagnosed abnormality (25% of cases),
mother seen before or during early pregnancy for ad-
vanced maternal age (12%), and those seen because of
a family history of a birth defect (63%). This last cat-
egory included cases in which the previous abnormality
was the same as the current one, whereas others had a
dissimilar birth defect.
For those with a previous dissimilar birth defect, and
for those seen because of advanced maternal age
(AMA), a sample of genetics files was reviewed to de-
termine whether these women were seen again after
the birth of the current baby. Among the women who
were seen before or during early pregnancy for AMA,
10 of 15 women were seen again after the birth of the
malformed baby. Twelve of the fifteen files checked for
women who gave birth to a baby with a dissimilar birth
defect, were seen again after the birth of the current
baby.
Five percent or 19 service referrals occurred more
than 3 years after the birth of the 1991 baby, i.e., in
1994 or 1995. If we assume that this figure also holds
true for the 1993 babies in 1996 and 1997, there would
be an increase in the total referral rate from 16.2% to
(%) 17.1% (Table I).
The hospital of baby’s birth and the genetic service
referral rate are shown in Table III. It was important to
separate out the two teaching hospitals with genetic
18 counselling services (B and C) for this analysis.
48 Teaching hospital A has no genetic clinic and there-
18
7 fore no consultant medical geneticist on site at any
3 time, unlike the other two teaching hospitals. There
2 was a slight increase (nonsignificant) in uptake rate in
4 1993 for the high need category. There was a reduction
in use of genetics service at teaching hospital B by
1993. At teaching hospital C, there was increased uti-
lization by high need cases and maintenance of the
relatively substantial rate of counselling in the moder-
ate need category. Utilization rates in country private
hospitals were lower than elsewhere in 1991 but had
increased by 1993.
It was thought that the mother’s country of birth
might influence whether parents were referred for ge-
netic counselling. Therefore, the data were stratified
according to country of birth, as an indicator of lan-
guage and perhaps cultural barriers to service access;
1991 and 1992 results were pooled owing to small num-
bers (Table IV). There was no significant difference be-
tween utilization rates for women from different coun-
tries of birth. (x2 4 8.28; P 4 0.14; df 4 5).
Utilization rates for women of different age groups
were examined, again using pooled data for 1991 and
1993 (Table V). Many of those in the unknown age cat-
egory are those who have had a termination of preg-
nancy for a birth defect and for whom there is no cal-
culated age at delivery. The highest rate of genetic ser-
vice utilization is in this group (35%).
Women aged 40 years and over were at a higher risk

TABLE III. Hospital of Baby’s Birth, Malformation Category, and Referral Rates: Number in
CMR (% Referred)
1991 1993
Need for referral Need for referral
High Mod Low Total High Mod Low Total
Teaching hospital
A 48 95 55 198 30 90 41 161
(35.4) (7.4) (9.1) (14.6) (40.0) (6.7) (4.9) (12.4)
Teaching hospital
B 81 97 35 213 68 71 25 164
(42.0) (12.4) (0) (21.6) (32.4) (9.9) (0) (17.7)
Teaching hospital
C 147 140 75 362 131 138 62 331
(55.8) (22.9) (9.3) (33.4) (67.2) (21.7) (9.7) (37.5)
Metro-private 69 154 111 334 89 182 133 404
(34.8) (8.4) (3.6) (12.3) (41.6) (7.7) (6.0) (14.6)
Metro-public 121 238 144 503 99 268 143 510
(47.1) (7.6) (2.1) (15.5) (45.5) (6.7) (4.2) (13.5)
Country private 33 60 42 135 19 44 35 98
(27.3) (10.0) (0) (11.1) (42.1) (6.8) (0) (11.2)
Country public 90 203 162 455 89 215 145 449
(34.4) (9.4) (6.2) (13.2) (32.6) (8.4) (4.8) (12.0)
Other, e.g., home
births, interstate 33 16 4 53 27 8 2 37
(51.5) (6.3) (0) (34.0) (35.7) (12.5) (50) (32.4)
 Genetic Counselling for Birth Defects 7

TABLE IV. Birth Defects and Use of Genetics Services for Mothers With Different
Countries of Birth, 1991 and 1993 Pooled
Need for referral
Country High Mod Low Total
Australia
No. in BDCMR 633 1444 968 3,045
No. (%) referred 251 (39.6) 129 (8.9) 39 (4.0) 419 (13.8)
Oceania, incl. New Zealand
No. in BDCMR 20 45 23 88
No. (%) referred 6 (33.3) 5 (11.1) 1 (4.3) 12 (13.6)
United Kingdom
No. in BDCMR 54 86 64 204
No. (%) referred 24 (44.4) 9 (10.5) 7 (10.9) 40 (16.7)
Europe
No. in BDCMR 43 101 51 195
No. (%) referred 18 (41.9) 5 (4.9) 3 (5.9) 26 (13.3)
Asia, incl. Middle East
No. in BDCMR 108 183 83 374
No. (%) referred 41 (38.0) 19 (10.4) 3 (3.6) 63 (16.8)
Othera
No. in BDCMR 30 45 16 91
No. (%) referred 13 (43.3) 3 (6.7) 0 (0) 16 (17.6)
a
Other includes North and South America, Africa, and unknown.

of giving birth to a malformed baby (4.7%) than
younger women; this relates predominantly to aneu-
ploidy. If chromosome anomalies are removed from the
calculations, the percentage malformed drops to 3.3%
for women over age 40 years.
Women aged 40 years and over had the second high-
est total utilization rate (24.7%). The relative risk of
utilization for this group, compared to women in the
20–29 year age group, was 1.88 (95% CI 1.31–2.68; P <
0.001). The total rate is inflated by the higher propor-
tion of utilization in the moderate and low need catego-
ries. In fact, the highest utilization rate in the high
need category is in the 35–39 year age group (48.8%).
There was a significant linear increase in total utili-
zation rates with advancing maternal age (x2 for linear
trend 4 12.14; P < 0.001). The biggest difference in use
was in the low need category.
DISCUSSION
This is a population-based, record-linkage study, al-
lowing for a view of the whole state, in which there are
approximately 65,000 births per year, more than 2,000
of which have a birth defect. The VCGS provides all the
genetic counselling in the state and makes up a genet-
ics file on everyone seen in an outpatient setting at one
of their clinics. Record-linkage between the BDCMR
and the genetic filing system at the VCGS allowed us to
measure uptake rates of genetic counselling after a
baby had a birth defect.
The overall utilization rates for genetic counselling
when a baby was born with a defect were 16.9% in 1991
and 16.2% in 1993 (Table I). The study follow-up time
was less for the 1993 babies, but, if we extrapolate from
the 1991 data, another 5% would be referred in the
poststudy follow-up time, resulting in use by 17.1%
rather than 16.2%. With or without these 5%, we have
not seen a significant increase in utilization of genetic
services in Victoria.
A limitation of this study was the difficulty arising in
the categorisation of appropriateness or not for refer-
ral. However, we ensured that the researcher was
blinded to the high, moderate, and low need categori-
sation in order to prevent bias introduced by a more
detailed search for those in the ‘‘high need for referral’’
category. Our results in fact showed an appropriate
decline in utilization rates across the three categories.
The slight, nonsignificant increase in use of services
by those in the high need category, from 40% to 42.5%,
might represent an improving situation. To establish
whether this is a real increase, it will be important to
reassess the situation in the next year or two.
The rates quoted include cases in which the genetic
service was used by the family prior to the actual birth
date of the baby in the BDCMR. From a sample of
genetics files accessed directly, we know that, for ap-
proximately 70–80% of these families, there is another
counselling session. Knowledge of the service from a
previous encounter would have encouraged couples to
seek access as they wished.
In a previous study in the same population [Halliday
et al., 1995], it was shown that hospital of baby’s birth,
mother’s country of birth, and mother’s age at delivery
were significant predictors of uptake of prenatal diag-
nosis. However, in this study, the only significant vari-
able influencing uptake of genetic counselling was ma-
ternal age. These three variables are discussed below.
Hospital of Baby’s Birth
Table III shows that there was a slight increase in
utilization of genetic counselling from teaching hospi-
tal A, where, in fact, there was no genetic consultant.
This may reflect a growing awareness of genetic ser-
vices in the community.
Meanwhile there had been a slight decrease in use of
the genetics outpatient clinic at teaching hospital B.
This was probably due to the desired handling of some
cases by a counsellor (nongenetic) and obstetrician at a
concurrent fetal diagnostic unit. This had been neces-
8 Halliday et al.

TABLE V. Maternal Age and Use of Genetic Services, 1991 and 1993
Need for referral
Number of births
Maternal age (years) (% malformed) High Mod Low Total
12–19
No. in BDCMR 4,885 34 75 54 163
No. (%) referred [3.3% in BDCMR] 15 (44.1) 5 (6.7) 1 (1.8) 21 (12.9)
20–29
No. in BDCMR 69,159 426 1023 651 2100
No. (%) referred [3.0% in BDCMR] 162 (38.6) 88 (8.6) 27 (4.1) 277 (13.2)
30–34
No. in BDCMR 39,957 246 552 370 1168
No. (%) referred [2.9% in BDCMR] 96 (39.0) 54 (9.8) 16 (4.3) 166 (14.2)
35–39
No. in BDCMR 13,821 127 221 116 464
No. (%) referred [3.3% in BDCMR] 62 (48.8) 18 (8.1) 7 (6.0) 87 (18.7)
ù40
No. in BDCMR 2,161 55 32 14 101
No. (%) referred [4.7% in BDCMR] 19 (34.5) 4 (12.5) 2 (14.3) 25 (24.7)
Unknown age
No. in BDCMR 286 117 8 411
No. (%) referred 120 (42.0) 23 (19.6) 2 (25.0) 145 (34.3)

sary because of the burden on the limited genetic ser-
vice available. Importantly, there is also a paediatric
arm of this hospital, where there are experts familiar
with common birth defects and their causes.
In the third large teaching hospital (C), there was an
increase in the genetic counselling service. This would
have accounted for the increased identification and ap-
parent referral of high risk cases and maintenance of
the relatively substantial rate of counselling in the
moderate risk category. The finding of a 67% utiliza-
tion rate in the high need category at this hospital for
the 1993 birth defects, compared with only 32–45% in
other hospitals, indicates that there is considerable
room for improvement generally.
Overall, it was pleasing to see an improvement in
utilization rates for the high need category in most hos-
pital groupings. The lowest overall utilization rates
were from the country private hospitals, although
there was uptake by over 42% of the 1993 cases with a
high need.
Mother’s Country of Birth
The analysis of mother’s country of birth (Table IV)
showed that there was no particular pattern of use of
genetic services. Those with a European or Asian back-
ground, and therefore potentially non-English-
speaking, did not appear selectively disadvantaged in
this situation. This was rather surprising; women of
non-English-speaking background were significantly
less likely than women of English-speaking back-
ground to have amniocentesis or chorion villus sam-
pling for advanced maternal age [Halliday et al., 1995].
Perhaps when there is an actual, rather than possible,
birth of a malformed baby, cultural, language or other
barriers to access are removed, allowing for greater use
of genetic services.
Mother’s Age at Delivery
The expected association of increasing maternal age
with increasing birth defect rate (primarily from aneu-
ploidy) was found, and, correspondingly, the mother’s
age was a strong predictor of whether she had genetic
counselling or not (Table V). There was a twofold in-
crease in overall chance of uptake by a woman over age
40 years compared to women 20–29 years old. Utiliza-
tion, by older women, of genetic services was occurring
for the moderate and low need categories of birth de-
fects at a greater rate than in other age groups,
whereas uptake by those in the high need category was
no higher. This may be evidence for older women gen-
erally asking more questions because of their increased
knowledge and anxieties about having a baby with a
birth defect. Given the availability in Victoria of rou-
tine prenatal diagnosis to women 37 years and older,
they would more likely be aware of a genetic counsel-
ling service and seek advice, even when the chance of
recurrence was not particularly high. It may also re-
flect the fact that older women tend to give birth in the
teaching hospitals, and this might account for some of
the higher use observed, especially in the moderate
need category at teaching hospital C, where there is a
prenatal diagnostic and genetics service on site.
CONCLUSIONS
At least 26% of birth defects are categorised as war-
ranting a high need for referral of parents for genetic
counselling, approximately 46% a moderate need, and
another 27% a low need. For the study years, only 16–
17% of parents who had a baby with any birth defect
were seen by a medical geneticist or genetic counsellor.
However, where resident genetic counsellors are em-
ployed fulltime, as at teaching hospital C, the utiliza-
tion rate for those in the high need category was 67%,
and even those in moderate and lower need categories
were receiving counselling at relatively higher rates.
This would suggest that provision of such a service on
a wider scale would be beneficial to the community and
allow for appropriate management of more families
among whom a baby has a birth defect.
It was not possible in this study to determine wheth-
 Genetic Counselling for Birth Defects 9

er the overall poor use of genetic counselling services is APPENDIX A

due to inaccessibility of the existing services or lack of Category 1 (Should Receive Counselling)
knowledge about or interest in them. Perhaps other
nongenetic counselling services take care of some par- Achondroplastic dwarfism
ents and relatives. It is known, not only from our ex- Albinism
perience but also from overseas studies [Marteau et al., Anaemia due to disorders of glutathione metabolism
1994], that a variety of health professionals will take Anomalies of ear causing impairment of hearing
on the role of counsellor after diagnosis of a congenital Cystic fibrosis
abnormality. Further studies, perhaps interview- Cerebral cysts
based, may clarify how often this is occurring, whether Cerebral degenerations
this is adequate, and whether there is a greater need Cerebral lipidosis
for education on the availability of the existing genetic Chromosomal anomalies
services. Coagulation defects
Without any specific health promotion program, it is Combined immune deficiency
likely that use of genetic counselling services will in- Congenital malformation syndromes affecting facial
crease, merely as a result of the growing awareness of appearance
genetics in the community. There are new genetic tech- Congenital malformation syndromes associated with
nologies that will be used for predictive genetic testing, short stature
and more prenatal diagnosis will be possible as an ever Congenital malformation syndromes involving limbs
increasing number of genes are identified. There will Congenital malformations with metabolic disturbances
then be a need to provide many more genetic counsel- Congenital malformations with other skeletal changes
lors than are currently available and, along with this, Congenital musculoskeletal deformities of skull, face
an assessment of the quality of service provided. and jaw
Deficiency of upper limbs
Deficiency of lower limbs
ACKNOWLEDGMENTS Di George syndrome
The authors thank all those who notify birth defects Disorders of amino acid transport and metabolism
to the register, as well as the data entry personnel at Disorders of carbohydrate transport metabolism
the Perinatal Data Collection Unit. We also thank Jo Disorders of urea cycle metabolism
Wells, who maintains the VCGS filing system and was Dwarfing syndromes
particularly helpful in accessing this. Galactosaemia
Goldenhaar syndrome
Hearing loss
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10 Halliday et al.

Anomalies of spleen Category 3 (Low Need For Referral)

Anopthalmos
Agenesis, hypoplasia and dysplasia of lung Anomalies of cervix, vagina and external female geni-
Atresia and stenosis of large intestine, rectum and anal talia
canal Anomalies of kidney
Atresia and stenosis of small intestine Anomalies of larynx, trachea and bronchus
Buphthalmos Anomalies of lung
Bulbis cordis anomalies and anomalies of cardiac sep- Anomalies of muscle, tendon fascia and connective
tal closure
tissue
Cardiomyopathies
Anomalies of ureter
Choanal atresia
Cleft palate Anomalies of urinary system
Cleft palate and lip Anomalous atrioventricular excitation
Coloboma and other anomalies of anterior segment Atresia and stenosis of urethra and bladder neck
Congenital adhesions of tongue Benign neoplasm of ovary
Congenital anomalies of circulatory system Benign neoplasm of skin
Congenital anomalies of ear, face and neck Calculus of kidney
Congenital anomalies of eyelids, lacrimal system and Cervical rib anomaly
orbit Congenital anomalies of the digestive system
Congenital anomalies of nervous system Congenital anomalies of genital organs
Congenital anomalies of posterior segment Congenital anomalies of the integument
Congenital cataract and lens anomalies Congenital dislocation of hip
Congenital cystic lung Congenital hiatus hernia
Congenital cytomegalovirus infection Congenital hypertrophic pyloric stenosis
Congenital genu recurvatum and bowing of long bones Congenital thrombocytopenic purpura
of leg Endocardial fibroelastosis
Congenital musculoskeletal deformities of spine Hyperosmolality and/or hypernatraemia
Cystic kidney disease Hyperosmolality and/or hyponatraemia
Deficiency of humoral immunity Hyperkalemia
Delay in development Hypopotassemia
Dentofacial anomalies
Hypospadias and epispadias
Disorders of autonomic nervous system
Intestinal disaccharidase deficiencies and disaccharide
Disorders of calcium metabolism
Disorders involving the immune mechanism malabsorption
Disorders of plasma protein metabolism Lymphangioma
Epilepsy Malignant neoplasm of adrenal gland
Exostrophy of urinary bladder Meckel diverticulum
Hydrops fetalis Musculoskeletal deformities of skull, face and jaw
Ichthyosis congenita Musculoskeletal deformities of sternocleidomastoid
Infantile cerebral palsy muscle
Indeterminate sex Neoplasm of uncertain behaviour of other and unspeci-
Irregularities of eye movement fied tissues
Microphthalmus Nonteratogenic anomalies
Myopathy Obstructive defects of renal pelvis and ureter
Polydactyly Paroxysmal supraventricular tachycardia
Reduction deformities unspecified Specified congenital anomalies of orbit
Situs inversus Umbilical hernia
Spina bifida Valgus deformities of feet
Syndactyly Varus deformities of feet
Tracheoesophageal fistula, oesophageal atresia and Vesicoureteral reflux
stenosis Volume depletion