title: [POSSIBILITIES AND LIMITATIONS ANALYSIS OF SCREENING IN PREGNANT WOMEN FOR DOWN SYNDROME AND OTHER COMMON CHROMOSOMAL DISORDERS OVER A PERIOD OF TWO YEARS].
abstract: Maternal biochemical screening and the new non-invasive prenatal screening tests as well as prenatal diagnostic tests as tools to fight serious chromosomal diseases have their possibilities and limitations. The article presents analysis of the results in 7 201 pregnant women: 4426 first trimester and 2775 second trimester biochemical screening, together with 994 calculated integrated risks performed in the Laboratory of medical genetics in 2013 and 2014 year. A matter of mass screening in both periods is the criterion of efficiency--financially justified reasons on the basis of comparison "sensitivity" of different approaches. First trimester screening revealed 5 (71.42%) cases of chromosomal disease and 1 (14.28%) case with large congenital anomaly. From second trimester biochemical screening 3 (60%) cases were revealed. Chromosomal pathology in pregnant women with calculated integrated risk was found in 7 (70%) cases. From a total of 22 screened pregnant women with prenatal or postnatal verified diagnosis of Down syndrome, Edvards, Patau or Turner, highest detection rate is found in first trimester screening--6 of 7 (85.7%). Contingent approach is most widely used in Europe and we confidently recommend it.
authors: Hachmerian M
authors: Angelova L
authors: Ivanov St
authors: Kovachev E
mesh_terms: D000328:Adult; D025063:Chromosome Disorders / Q000175:diagnosis*; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008403:Mass Screening / Q000379:methods; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods; D055815:Young Adult