title: [Types of screening for congenital diseases - results in Bulgaria, conclusions and future objectives].
abstract: Bulgarian statistics of recent years (2008-2012) indicate weak knowledge and use of the various screenings . Low percentage of pregnant passed screening tests and improper interpretation of the calculated risks, has led on the one hand to the high percentage of invasive diagnostics in the surveyed population (6% instead of 3%) to diagnose 90% of pregnancies with trisomy 21, and at the same time low percentage diagnosed pregnancies with Down's syndrome in the population of all pregnant women (tested and untested). We are performing invasive procedures of almost all pregnant women over 35 years old, and instead of the screening in the 1st trimester, we still use the screening in the 2nd trimester which is with limited application in Europe because of the high rate of false positive (false positive rate) and the unsatisfactory rate of recognized pregnancies with chromosomal defects (detedtion rate 70%).
  
  
  OBJECTIVE
  To make the analysis of screening data, in the 1st and 2nd trimester for the period 2008-2012 in the Hospital "Maichin Dom" and our Center for Prenatal Diagnosis (respectively 93956 and 5046 pregnant women observed), the percentage of invasive diagnostic and percent diagnosed with Down syndr. in the total number of pregnancies, 99002 versus the number born with the disease in the country according to data of the National Statistical Institute. METHODS AND MATERIALS Used was the algorytm of FMF London to assess the effectiveness of the various screenings (Prof Nikolaides et al.) more specific for each of them - Detection rate and False positive rate, and statistical meta-analyses of H. Cuckle and D. Wright, for the estimated number of pregnancies with Down syndr.and the expected percentage of invasive diagnostics for locating over 90% of them in a population of 100,000 pregnant women.
  
  
  RESULTS
  99002 Surveyed pregnancies for the period 2008-2012 are around 25% of the total population (377,040 births), there are 7645 invasive procedures (i.e. 7,7 % of the expected 3%) and are diagnosed with Down's syndrome pregnancies were 181 from statistically expected about 200 (i.e., 90%) in the same period, 152 babies are born with TRI 21.
  
  
  CONCLUSIONS
  In terms of the lack of a National Strategy for screening for congenital diseases, non-compliance with the principles and protocols for consultation of patients about the results obtained and generally poor knowledge of the various screenings have led to the negative attitude of the doctors and patients to screening programs and low percentage of pregnant women targeted or seeking such tests (about 30%) and a high percentage of invasive diagnosis (due to the high percentage of false positive rate and incorrect interpretation of the calculated risks).
authors.forename: M
authors.initials: M
authors.lastname: Yankova
authors.forename: A
authors.initials: A
authors.lastname: Savov
mesh_terms: D000328:Adult; D002031:Bulgaria / Q000453:epidemiology; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000453:epidemiology; D004314:Down Syndrome / Q000175:diagnosis / Q000453:epidemiology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods; D012307:Risk Factors; D055815:Young Adult