A. pek 1,2,3 , V. Gregor 1,2 , J. Horek 1,4 , A . pek Jr. 1,5 , P. - - PowerPoint PPT Presentation

NATIONAL REGISTRY OF CONGENITAL ANOMALIES OF THE CZECH REPUBLIC: 50 YEARS OF SURVEILLANCE HISTORY AND CHALLENGES OF THE FUTURE

1. Department of Medical Genetics, Thomayer Hospital, Prague, Czech Republic 2. Department of Medical Genetics, Pronatal Sanatorium, Prague, Czech Republic 3. Department of General Biology and Genetics, 3rd Faculty of Medicine of Charles University in Prague, Prague, Czech Republic 4. Gennet, Centre for Fetal Medicine and Reproductive Genetics, Prague, Czech Republic 5. Institute of Medical Biology and Genetics, 1st Faculty of Medicine of Charles University in Prague and General University Hospital, Prague, Czech Republic 6. National Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic

• A. Šípek1,2,3, V. Gregor1,2, J. Horáček1,4,
• A. Šípek Jr.1,5, P. Langhammer6

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)

Selected congenital anomalies surveillance programs in the world - Timeline

National Registry of Congenital Anomalies of the Czech Republic

Czech Republic - History

National Registry of Congenital Anomalies

• f 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 - 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

• f 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)

Czech Republic

Population: 10 548 527 Area: 78,866 km2 Regions: 13 regions and the capital Prague; 76 districts in total Population density: 133/km2 Annual births: approx. 100 000 Capitol and largest city: Prague (1 241 000 inhabitants) Life expectancy (years): Males - 73.54; Females - 80.28 Language: Czech Ethnicity: Czech 90.4%, Moravian 3.7%, Slovak 1.9%, other 4% Religions: Roman Catholic 27%, Protestant 2%, unaffiliated 59%

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)

Anencephaly

Anencephaly – All cases in live births and prenatal diagnosis

Anencephaly

Anencephaly – All cases in live births and prenatal diagnosis

Down syndrome

Down syndrome – All cases in live births and prenatal diagnosis

Down syndrome

Down syndrome – All cases in live births and prenatal diagnosis

5 10 15 20 25

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 2011 2013

Births Prenatal diagnosis Per 10.000 of live births

Invasive prenatal diagnosis

250 203 85 86 53 62 129 212 268 497 642 835 872 898 1056 1140 400 318 376 400 231 250 294 216 234 165 125 20 85 86 100 90 10858 10831 11099 11866 12799 14673 15989 17499 18099 18655 18284 17954 15554 12526 10361 8534

2000 4000 6000 8000 10000 12000 14000 16000 18000 20000 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

Prenatal diagnosis - Indications

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

Maternal age – Time trends

5 10 15 20 25 1985 1986 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

%

Proportion of 35+ years old mothers

Maternal age – Time trends

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

%

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

Screening

Proportion of screening programs in prenatal diagnosis (2013)

143 44 16

• I. trimester
• II. trimester

Integrated

Down syndrome

Down syndrome – All cases in live births and prenatal diagnosis

5 10 15 20 25 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

Down syndrome

Down syndrome – relative number of prenatally diagnosed cases (%) 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

%

Edwards syndrome

Edwards syndrome – All cases in live births and prenatal diagnosis

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 (%)

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

%

Patau syndrome

Patau syndrome – All cases in live births and prenatal diagnosis

1 2 3 4 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

Patau syndrome

Patau syndrome – relative number of prenatally diagnosed cases (%)

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

%

Spina bifida

Spina bifida – All cases in live births and prenatal diagnosis

Spina bifida

Spina bifida – All cases in live births and prenatal diagnosis

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

5 10 15 20 25 30 35 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 1994 1995 1996 1997 1998 1999 2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 2011 2012 2013