Effectiveness of prenatal screening for
Down-syndrome on the basis of the
Hungarian Congenital Abnormality
Registry
Judit Beres, Andrea Valek, Janos Sandor and Julia Metneki
Department of Hungarian Congenital Abnormality Registry
(HCAR), National Institute for Health Development,
Budapest, Hungary
National
Institute for Health
Development
38th Annual Meeting of ICBDSR
Geneva 27-30 September 2011
Preliminaries
1970 – establishing of Hungarian Congenital Abnormality Registry (HCAR)
1974 - ICBD founder member: prof. Andrew Czeizel
-
monitoring of all congenital malformations and chromosomal aberrations (ICD-10
codes: Q00-Q99) including Down syndrome = DS
1985 - effectiveness of the prenatal screening (PS) for DS had become the compulsory
part of the prenatal care
70
2007 - without minor anomalies:
hernias, haemangioma, etc.
60
*
40
2009 – on-line notification
30
20
10
Ratio of notification of HCAR, 1990-2009
2009
2008
2007
2006
2005
2004
2003
2002
2001
2000
1999
1998
1997
1996
1995
1994
1993
1992
1991
0
1990
Per thousand
50
Objectives
•
to map the time and spatial patterns of DS and PS
•
to describe the quality indicators of prenatal screening
of DS in Hungary
•
to plan and start clinical audit of prenatal screening of DS
•
to support the exploration of the non-utilized opportunities
•
to improve the screening effectiveness
Materials and methods
•
Compulsory and whole-country-covering reporting in the study period,
2001-2009.
•
Active search of unrecorded cases significantly expanded the HCARS
database.
•
All the records contain data on age and residence of the mother, outcome
of the pregnancy, prenatal diagnoses, and gestation age of detection.
•
The prevalence of DS has been calculated for all pregnancies and for
livebirths separately.
•
The data on deliveries and the age-specific fertility rates of mothers had
been determined by the National Center for Statistics.
Prevalence of DS in Hungary,
1970-2009
Registered prevalence of DS
%
2
Birth prevalence of DS
2005: 1,9‰
2009: 1,6‰
1,5
2009: 0,86‰
1
0,5
Prevalence 2001-2009:
Number of total births:
Registered number of DS:
1,78 ‰ (1 : 563 total births)
877.744
1.558
09
20
06
20
03
20
00
20
97
19
94
19
91
19
88
19
85
19
82
19
79
19
76
19
73
19
19
70
0
Changes of age-group of mothers in the
Hungarian population between 1990-2009
%
- 24
25-29
30-34
?35
55
49,4
45
35
25
20,7
15,0
15
8,4
5
1990-1994
1995-1999
2000-2004
2005-2006
2007
2008
2009
The age of mothers shows remarkable time-trend change.
The age-specific fertility rate of younger mothers decreased, while this rate of older mothers increased
Live births by age-group of mother per 1000
females of corresponding age, 1970-2009
Per thousand
180
160
1970
140
1990
2008
120
2009
100
80
60
40
20
0
-19
20-24
25-29
30-34
35-39
40-44
45-
Age-group of mother
There is a significant demographic change in the maternal age in the Hungarian population.
A drastic decline can be observed in proportion of women under 25,
while a significant increasing tendency in the proportion of women over 30 or more .
The distribution of mothers 35 years or above in
the Hungarian population, 2001-2009
15,0
16
13,6
14
12
9,3
10
8,0
11,1
11,8
2005
2006
12,7
10,3
8,6
8
6
4
2
0
2001
2002
2003
2004
2007
2008
2009
years
The proportion of mothers 35 years or above increased from 8% to 15%
(this value is almost the double).
2009 – number of mothers over 35: 14.471 (over 45 or more: 81, over 50 or more: 3)
Ratio of prenatally diagnosed fetus with DS
by region, 2009
6/17
35%
13/21
62%
7/12
58%
11/24
46%
16/28
57%
54/75
72%
15/25
60%
Significantly lower
No significant
difference
Significantly higher
Ratio of detection - national average: 123/203 60,6%
Significant variability was observed in the efficiency of prenatal screening
of cases with DS by region (minimum value 35% maximum value 72%)
Prenatal diagnosis of DS 2005 – 2009
(EUROCAT)
Vaud (Switzerland)
Paris (France)
Basque Country (Spain)
Hainaut (Belgium)
Isle de la Reunion (France)
Tuscany (Italy)
Styria (Austria)
Emilia Romagna (Italy)
Odense (Denmark)
Wessex (UK)
Wales (UK)
EUROCAT
VRONY
Thames Valley (UK)
East Midlands & South Yorkshire (UK)
Northern England (UK)
N Netherlands (NL)
S Portugal
EUROCAT: 2005-2009:
60,4%
HCAR: 2005-2009:
57,9%
Zagreb (Croatia)
Ukraine
SE Ireland
Malta
0%
25%
50%
www.urocat.ulster.ac.uk
75%
100%
The ratio of prenatally detected
fetus with DS, 2001-2009
100%
90%
80%
33,3
33,7
24,2
36,9
48,7
70%
55,5
50,3
54,3
2006
2007
2008
60,6
60%
50%
40%
30%
20%
10%
0%
2001
2002
2003
2004
2005
not diagnosed prenatally
prenatally diagnosed
The ratio of prenatally detected fetus with DS
has been increased year by year
2009
Age of mother and efficacity
of prenatal screening
70
72,3%
Diagnosed
60
No. of cases
57,1%
Not diagnosed
50
74,4%
40
30
50,0%
20
10
16,7%
20,0%
28,6%
0
16-19
20-24
25-29
30-34
35-39
40-
Unknow n
Age-group of m other
The older the mother,
the higher the probability of prenatally detected fetus with DS
Number of cases and prevalence for DS
by age-group of mothers
70
25
No. of cases
60
49
50
43
40
30
22
20
10
6
10
7
0
16-19
20-24
25-29
30-34
35-39
Age-group of mother
40-44
Unkown
DS per thousand mothers of
corresponding age
65
20,4
20
15
10
5,3
5
1,0
0,7
0,8
1,5
16-19
20-24
25-29
30-34
0
35-39
40-44
Age-group of m other
More than half of cases with DS (108/202) arise from mothers
35 years or above.
The risk having a baby with DS increases exponentially with the maternal age
and slightly higher among mothers under 20 comparing to mother aged 20-24.
In the group of mothers 40-44 the ratio of cases with DS is 20/1000
Conclusions
•
The increasing prevalence of DS can be primarily attributed
to the increasing ratio of advanced age of mothers
•
PS showed a significant improvement year by year
•
The prevalence of DS and the efficiency of PS was slightly
lower than the values observed in other European countries
•
The decreasing ratio of livebirths has indicated the
improving effectiveness of prenatal DS screening practice in
Hungary
•
The increasing geographical inequalities in screening
effectiveness demonstrated the existence of non-exploited
opportunities in certain (non-properly managed) areas of
Hungary
Effectiveness of prenatal screening
Bases of score: age of mother,
NT (nuchal translucency), beta-hCG
and PAPP-A
Contradiction in effectiveness of PS
– theoretically:
≅80-90%
– on the basis of HCAR 60%
Clinical audit of prenatal screening for DS I.
Prenatal diagnosis and prenatal screening (PS) of DS
Aims:
•
•
•
•
•
•
•
•
•
•
•
to increase the effectiveness of PS
to improve the quality of PS
to spread the application of the valid professional guideline
to identify of weak points of practice (min)
to describe the priority order of treatments (max)
to increase the number of audited experts in ultrasonic
examination
to establish ultrasonic centers
to prepare united proposal for biochemical screening
to map the financial problems
to prepare the revision of protocol
the improve the quality of data reporting
Clinical audit of prenatal screening for DS II.
Cases included in the study
Birth data: 01.01.2008.-31.12.2010.
All cases born with DS + all prenatally diagnosed terminated fetus with DS
Content of data:
Equipment and skilled of institutions doing PS
Documentation of the process of PS (ultrasonic or biochemical)
and diagnosis
Determination of results of examinations
Method of clinical audit:
Paper-based questionnaire (min)
On-line data sheet (max)
Collecting data through the network of HCARSR representatives
Institutions filling out the questionnaire (or data-sheet)
All Hungarian institutions taking care of PS
Data-sheet of institutions
Data sheet of prenatal detected and not-detected cases with DS
Starting of research: 01.09.2011.
Expected results of clinical audit
•
•
•
•
to identify the weak points of screening
to establish necessary intervention
to increase the prenatal detection rate of DS
to decrease the number of unnecessary invasive
interventions
• to prepare new guideline for PS
• to improve the professional skill of sonographers
• to establish correct ultrasonic diagnostic machines
Thank you for your attention!
Team of HCAR
Márta Vadász
Dr. Andrea Valek
Vanessza Vigmann
Dr. János Sándor
Eszter Balku
Magdolna Vámos
Dr. Julia Métneki
Maternity leave: Melinda Szunyogh and Erzsébet Puhó