czech register of chromosomal aberrations€¦ · czech register of chromosomal aberrations 1....
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Czech Register of
Chromosomal Aberrations
1. Institute of Medical Biology and Genetics, 1st Faculty of Medicine of Charles University in Prague
and General University Hospital, Prague, Czech Republic
2. Department of Medical Genetics, Thomayer Hospital, Prague, Czech Republic
3. Department of Medical Genetics, Pronatal Sanatorium, Prague, Czech Republic
4. Department of General Biology and Genetics, 3rd Faculty of Medicine of Charles University in
Prague, Prague, Czech Republic
5. Gennet, Centre for Fetal Medicine and Reproductive Genetics, Prague, Czech Republic
Antonín Šípek Jr1,2, Antonín Šípek2,3,4,
Vladimír Gregor2,3 and Jiří Horáček2,5
http://www.vrozene-vady.cz/
50 years anniversary
1962 – Hungary
1963 – Finland
1964 – Czechoslovakia
1966 – Canada (British Columbia since r. 1952), Israel
1967 – Georgia (USA), Norway, South Africa
1968 – Denmark
1970 – Northern Ireland (Belfast area since 1957)
Congenital anomalies surveillance programs in the world - Timeline
National Registry of Congenital Anomalies of the Czech Republic
Czech Republic - History I
National Registry of Congenital Anomalies
of the Czech Republic (NRCA)
• Unofficial monitoring in former Czechoslovakia started in 1961
• Official monitoring started on 1st of January 1964
• First stage (1964 – 1974) – only 36 selected diagnoses of
congenital anomalies (CA) were registered
• Second stage (1975 – 1993) – 60 diagnoses of CA registered
• Present time: (1994 – now) – all cases in terminations of
pregnancies (TOPs), stillbirths and live births are registered
(age limit for reporting = 15 years)
• Near future: no age limit, additional diagnoses (rare diseases),
electronic registration, OMIM and Orphanet codes etc.
Czech Republic - History II
1971 – Cultivation of
amniocytes
1971 – First prenatally
diagnosed M. Down
1977 – Placentocentesis
1978 – Fetoscopy
1980 – USG Diagnostics
1983 – CVS
1985 – The data on prenatal
diagnosis became a part of
registration
1987 – Cordocentesis
1988 – Early amniocentesis
1990 – Biochemical screening
2000 – PGD
2012 – NIPST
Czech Republic - Present State
Registry: population based (whole area of the Czech Republic)
Law: The registration is compulsory, required by the Internal Law of Ministry of Health
(nr. 14/2001). The database is run by the Institute of Health Information and Statistics
of the Czech Republic. Additional data on prenatally diagnosed cases are collected
thanks to the country-wide cooperation.
Cases: all cases in TOPs, live births and stillbirths are reported
Coding: ICD-10 (international), no verbal description
Sources: Multiple sources, including departments of medical genetics, genetic
laboratories, pediatric and neonatology departments, delivery units, ultrasound
diagnostics departments etc.
Termination of Pregnancy: Legal, up to the 24th week of gestation (from genetic
reasons)
International Cooperation
http://www.icbdsr.org http://www.eurocat-network.eu/
Established in 1974
World-Wide organization
CZE: Full membership
(1974)
Established in 1979
European organization
CZE: Associate membership
(2009)
Down syndrome
Down syndrome – All cases in live births and prenatal diagnosis
0
50
100
150
200
250
300
350
1961
1963
1965
1967
1969
1971
1973
1975
1977
1979
1981
1983
1985
1987
1989
1991
1993
1995
1997
1999
2001
2003
2005
2007
2009
20
11
2013
Prenatal diagnosis Births
3120 5151
Absolute numbers
Down syndrome
Down syndrome – All cases in live births and prenatal diagnosis
0
5
10
15
20
25
19
61
19
63
19
65
19
67
19
69
19
71
19
73
19
75
19
77
19
79
19
81
19
83
19
85
19
87
19
89
19
91
19
93
19
95
19
97
19
99
20
01
20
03
20
05
20
07
20
09
20
11
20
13
Births Prenatal diagnosis Per 10.000 of live births
Down syndrome
Down syndrome – All cases in live births and prenatal diagnosis
0
5
10
15
20
25
19
94
19
95
19
96
19
97
19
98
19
99
20
00
20
01
20
02
20
03
2004
20
05
20
06
2007
20
08
20
09
20
10
2011
20
12
20
13
Births Prenatal diagnosis Per 10.000 of live births
Down syndrome
Down syndrome – relative number of prenatally diagnosed cases (%)
0
10
20
30
40
50
60
70
80
90
100
1994
1995
1996
1997
1998
1999
2000
2001
2002
2003
2004
2005
2006
2007
2008
2009
2010
2011
2012
2013
%
Invasive prenatal diagnosis 2
50
20
3
85
86
53
62
12
9
21
2 26
8
49
7
64
2
83
5 87
2
89
8
1056
11
40
40
0
31
8 3
76
40
0
23
1
25
0 29
4
21
6
23
4
16
5
12
5
20
85
86
10
0
90
10858 10831
11099
11866
12799
14673
15989
17499 18099
18655 18284
17954
15554
12526
10361
8534
0
2000
4000
6000
8000
10000
12000
14000
16000
18000
20000
0
200
400
600
800
1000
1200
1998 1999 2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 2011 2012 2013
CVS CC AMC
Effectiveness
Number of invasive procedures needed for one diagnosis of Down syndrome
131
125
122
128
140 146 145
123
114 116
102
118
89
81
21
29
18
8 7 6
7
10 10
15
10 9 9 9
0
5
10
15
20
25
30
35
0
20
40
60
80
100
120
140
160
2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 2011 2012 2013
AMC CVS
Time of diagnosis
Average week of gestation at diagnosis of Down syndrome
20,33
19,17
19,57
20,92
19,98
19,23
19,60 19,20 19,24
18,97
18,12
17,39
17,44 17,52
16,56 16,58
15,78 15,55 15,08
14,98
12
13
14
15
16
17
18
19
20
21
22
19
94
19
95
19
96
19
97
19
98
19
99
20
00
20
01
20
02
20
03
2004
20
05
20
06
20
07
20
08
20
09
20
10
20
11
20
12
20
13
Prenatal diagnosis - Indications
0
10
20
30
40
50
60
70
80
90
1992 1994 1996 1998 2000 2002 2004 2006 2008 2010
Maternal age Screening
Ultrasonography Other
%
Year
Screening
Proportion of screening programs in prenatal diagnosis (2013)
143
44
16
I. trimester
II. trimester
Integrated
Maternal age – Time trends
0
5
10
15
20
25
1985
19
86
19
87
19
88
19
89
19
90
19
91
19
92
19
93
19
94
19
95
19
96
19
97
1998
19
99
20
00
20
01
20
02
20
03
20
04
20
05
20
06
20
07
20
08
20
09
20
10
2011
20
12
20
13
%
Proportion of 35+ years old mothers
Maternal age – Time trends
0
5
10
15
20
25
30
35
40
45
50
1987
1988
1989
1990
1991
1992
1993
1994
1995
1996
1997
1998
1999
2000
2001
2002
2003
2004
2005
2006
2007
2008
2009
2010
2011
2012
2013
15-19 20-24 25-29 30-34 35-39 %
Edwards syndrome
Edwards syndrome – All cases in live births and prenatal diagnosis
0
1
2
3
4
5
6
7
8
1994
1995
1996
1997
1998
1999
2000
2001
2002
2003
2004
2005
2006
2007
2008
2009
2010
2011
2012
2013
Births Prenatal diagnosis Per 10.000 of live births
Edwards syndrome
Edwards syndrome – relative number of prenatally diagnosed cases (%)
0
10
20
30
40
50
60
70
80
90
100
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
2012
20
13
%
Patau syndrome
Patau syndrome – All cases in live births and prenatal diagnosis
0
1
2
3
4
1994
19
95
19
96
19
97
19
98
19
99
20
00
20
01
20
02
2003
20
04
20
05
20
06
20
07
20
08
20
09
20
10
2011
2012
20
13
Births Prenatal diagnosis Per 10.000 of live births
Patau syndrome
Patau syndrome – relative number of prenatally diagnosed cases (%)
0
10
20
30
40
50
60
70
80
90
100
19
94
19
95
19
96
1997
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
2011
20
12
20
13
%
Conclusions
1. The number of prenatally diagnosed cases of
Down syndrome is increasing
2. The number of Down syndrome cases in live births
is decreasing
3. The indication criteria for the invasive prenatal
diagnosis are changing during last years
4. The average maternal age is notably increasing
during last years
5. The early prenatal diagnosis (during the first
trimester of gravidity) is becoming much more
important during last years
Acknowledgements
We would like to express our thanks to all
helpful professionals (geneticists,
neonatologists, pediatricians,
gynecologists and many others) who are
involved in the registration process and
provide the data, necessary for the
surveillance of the congenital anomalies in
the Czech Republic
