1 / 19

Effectiveness of prenatal screening for Down-syndrome on the basis of the Hungarian Congenital A b no r mali ty Regist

Effectiveness of prenatal screening for Down-syndrome on the basis of the Hungarian Congenital A b no r mali ty Registry. Judit Beres , Andrea Valek, Janos Sandor and Julia Metneki

glora
Download Presentation

Effectiveness of prenatal screening for Down-syndrome on the basis of the Hungarian Congenital A b no r mali ty Regist

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. 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 ofHungarian Congenital Abnormality Registry (HCAR), National Institute for Health Development, Budapest, Hungary 38th Annual Meeting of ICBDSR Geneva 27-30 September 2011 National Institute for Health Development

  2. 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) includingDown syndrome = DS 1985 - effectiveness of the prenatal screening (PS) for DS had become the compulsory part of the prenatal care 2007 - without minor anomalies: hernias, haemangioma, etc. 2009 – on-line notification Ratio of notification of HCAR, 1990-2009

  3. 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

  4. 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.

  5. % 2005: 1,9‰ 2009: 1,6‰ 2009: 0,86‰ Prevalenceof DS in Hungary, 1970-2009 Prevalence 2001-2009: 1,78 ‰ (1 : 563 total births) Number of total births:877.744 Registered numberof DS:1.558

  6. - 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 Changes of age-group of mothers in the Hungarian population between 1990-2009 % 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

  7. Live births by age-group of mother per 1000 females of corresponding age, 1970-2009 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 womenover 30 or more .

  8. The distribution of mothers 35 years or above in the Hungarian population, 2001-2009 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)

  9. Ratio of prenatally diagnosed fetus with DS by region, 2009 6/17 35% 16/28 57% 54/75 72% 7/12 58% 13/21 62% 15/25 60% 11/24 46% 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%)

  10. Prenatal diagnosis of DS 2005 – 2009 (EUROCAT) EUROCAT: 2005-2009:60,4% HCAR: 2005-2009: 57,9% www.urocat.ulster.ac.uk

  11. The ratio of prenatally detected fetus with DS, 2001-2009 The ratio of prenatally detected fetus with DS has been increased year by year

  12. Age of mother and efficacity of prenatal screening The older the mother, the higher the probability of prenatally detected fetus with DS

  13. Number of cases and prevalence for DS by age-group of mothers 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 40-44the ratio of cases with DS is 20/1000

  14. 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 screeningpractice in Hungary • The increasing geographical inequalities in screening effectiveness demonstrated the existence of non-exploited opportunities in certain (non-properly managed) areas of Hungary

  15. 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 HCAR60%

  16. Clinicalauditof prenatal screening for DS I. Prenatal diagnosis and prenatalscreening (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

  17. Clinicalauditof 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 fetuswith 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.

  18. 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

  19. Thank you for your attention! Team of HCAR Márta Vadász Vanessza Vigmann Eszter Balku Magdolna Vámos Dr. Andrea Valek Dr. Julia Métneki Dr. János Sándor Maternity leave:Melinda Szunyogh and Erzsébet Puhó

More Related