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undergraduate thesis
Probir na kromosomopatije
2015. urn:nbn:hr:176:249189
Gajica, Nikolina
University of Split
University Department of Health Studies

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Gajica, N. (2015). Probir na kromosomopatije (Undergraduate thesis). Retrieved from https://urn.nsk.hr/urn:nbn:hr:176:249189

Gajica, Nikolina. "Probir na kromosomopatije." Undergraduate thesis, University of Split, University Department of Health Studies, 2015. https://urn.nsk.hr/urn:nbn:hr:176:249189

Gajica, Nikolina. "Probir na kromosomopatije." Undergraduate thesis, University of Split, University Department of Health Studies, 2015. https://urn.nsk.hr/urn:nbn:hr:176:249189

Gajica, N. (2015). 'Probir na kromosomopatije', Undergraduate thesis, University of Split, University Department of Health Studies, accessed 22 March 2023, https://urn.nsk.hr/urn:nbn:hr:176:249189

Gajica N. Probir na kromosomopatije [Undergraduate thesis]. Split: University of Split, University Department of Health Studies; 2015 [cited 2023 March 22] Available at: https://urn.nsk.hr/urn:nbn:hr:176:249189

N. Gajica, "Probir na kromosomopatije", Undergraduate thesis, University of Split, University Department of Health Studies, Split, 2015. Available at: https://urn.nsk.hr/urn:nbn:hr:176:249189

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Metadata
TitleProbir na kromosomopatije
Title (english)Screening for Chromosomopathy
AuthorNikolina Gajica
MentorMarko Vulić (mentor)
Committee memberZoran Meštrović (predsjednik povjerenstva)
Committee memberZdeslav Benzon (član povjerenstva)
Committee memberMarko Vulić (član povjerenstva)
GranterUniversity of Split
University Department of Health Studies
Split
Defense date and country2015-09-30, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Gynecology and Obstetrics
Abstract
Kromosomopatije-poremetnje broja ili građe kromosoma su najčešći uzrok umanjene ljudske plodnosti. Normalan broj kromosoma u tjelesnim ljudskim stanicama je diploidan, dok je u spolnim haploidan. Najčešći uzrok kromosomopatija je poremećena mejoza. Razvoj ljudske civilizacije, kao i medicinske tehnologije, su doveli do toga da danas preko 95 % žena u razvijenim državama traži neku vrstu antenatalne dijagnostike. Uz već uobičajen ultrazvuk kojim se traga za anomalijama morfologije fetusa, već 15-ak godina su prisutni i različiti biokemijski testovi kojima se uz ultrazvučna pridružuju i mjerenja koncentracije nekih hormona u krvi majke. Ti testovi se provode u prvom i ranom drugom tromjesečju, a rezultat otkriva ima li trudnica veću ili manju šansu, od one očekivane za svoju dob, da rodi dijete sa neurednim brojem kromosoma. Rezultat testa koji upućuje na povećan rizik traži potvrdu nekom od metoda invazivne antenatalne dijagnostike. Već danas su dostupni testovi kojima se iz krvi majke određuje fetalni kariotip, što je budućnost antenatalne dijagnostike.
Abstract (english)
More than 95% women in developed countries demand some kind of antenatal screening for chromosomopaties. Chromosomopaties are structural and numeric chromosomal disorder. The most often diagnosed chromosomopathies are aneuploidies of witch Sy Down is most prominent. Usually, screening methods for chromosomopathies,are divided to invasive and noninvasive. Invasive methods are chorionic villus sampling (CVS) and amniocentesis. Noninvasive methods are double test, triple test and combined test of first trimester. Recently noninvasive prenatal tests (NIPT)are available on the market. Compared to existing noninvasive screening tests for chromosomopathies, in terms of specificity and sensitivity, NIPT is far more reliable. On the other hand, compared to invasive tests, dose not put mother and fetus at risk. A highly accurate selection of high risk pregnancies and use of NIPT it will dramatically reduce the need for invasive procedures.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:176:249189
Study programmeTitle: Midwifery (university/undergraduate)
Study programme type: university
Study level: undergraduate
Academic / professional title: sveučilišni prvostupnik/prvostupnica (baccalaureus/baccalaurea) primaljstva (sveučilišni prvostupnik/prvostupnica (baccalaureus/baccalaurea) primaljstva)
Type of resourceText
File originBorn digital
Access conditionsOpen access
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Created on2019-12-05 08:43:12