Information on population diagnosis procedures for early detection of anomalies in pregnancy

Rođenje djeteta svakako je jedan od najvažnijih događaja u životu. Sama objava radosne vijesti o trudnoći je velika sreća za cijelu obitelj. Kako savjeti dolaze sa svake strane, najčešće među njima se nađu i pretrage koje bi trebalo obaviti. Tu se nalazi i rani kombinirani probir za otkrivanje najčešćih kromosomskih trisomija, a to su Down sindrom ili trisomija 21, Edwardsov sindrom, trisomija 18 i Patau sindrom ili trisomija 13. Svaki od navedenih stanja dovodi do problema tijekom trudnoće i nerijetko do spontanog pobačaja. U današnjoj modernoj medicini postoje brojne invazivne, ali i neinvazivne metode koje su sastavni dio organizirane prenatalne skrbi. Riječ je o prenatalnoj dijagnostici pomoću koje se dijagnosticiraju malformacije u genetskim, kromosomskim predjelima. Invazivni dijagnostički testovi i to poput amniocenteze ili biopsije korionskih resica se primjenjuju kod visoko rizičnih trudnoća. S druge strane, neinvazivne metode poput biokemijskih i ultrazvučnih testova, testovi probira, primjenjuju se za sve trudnice i to bez obzira na njihovu dob te bez obzira na osobno ili obiteljsko genetičko opterećenje. Svrha navedenih probira je utvrđivanje povećanog rizika za određeni poremećaj. Cilj ovog rada je prikazati koje su to invazivne i neinvazivne metode prenatalne dijagnostike, koji su testovi u prvom i drugom tromjesečju koji se preporučuju napraviti kako bi se dobio uvid u napredak trudnoće i zdravlje djeteta, te koja je upućenost i stav populacije o ranom otkrivanju anomalija u trudnoći. Nastojao se steći uvid koliko je populacija upućena u provođenje dijagnostičkih pretraga za probir najčešćih trisomija, da li su se žene podvrgavale takvim testovima, što misle koliko su zapravo potrebni, što bi uradili u slučaju pozitivnog testa na neku od kromosomopatija. U istraživanju je sudjelovalo 225 osoba. Najviše sudionika bile su žene različite dobne skupine. Istraživanje je provedeno pomoću vlastito osmišljene ankete koja se sastojala od 15 pitanja, provedena je na internetskoj stranici uz suglasnost administratora. Uključivala je opće podatke te podatke o stavovima za provođenje prenatalnih testova. Iz navedene statističke obrade u nastavku rada vidljivo je da su mišljenja podijeljena kad je riječ o važnosti provođenja dijagnostičkih testova, međutim većina žena koje su sudjelovale upoznate su s testovima i podvrgnule su se u prijašnjim trudnoćama testovima na najčešće trisomije koje se pojavljuju kod djece.Birth of a child is certainly one of the most important events in life. The very announcement of the happy news about pregnancy is a great happiness for the whole family. As tips come from each side, the most common among them are the searches that should be done. There is also an early combination screen for the detection of most common chromosomal trisomies, such as Down syndrome or trisomy 21, Edwards syndrome, trisomy 18 and Patau syndrome or trisomy 13. Each of these conditions leads to problems during pregnancy and often spontaneous abortion. In today's modern medicine there are numerous invasive but noninvasive methods that are an integral part of organized prenatal care. It is a prenatal diagnosis that is used to diagnose malformations in genetic, chromosome domains. Invasive diagnostic tests such as amniocentesis or biopsy of chorionic ress are used in high-risk pregnancies. On the other hand, non-invasive methods such as biochemical and ultrasound tests, screening tests, are applied to all pregnant women regardless of their age and regardless of their personal or family genetic load. The purpose of the above mentioned probira is to determine the increased risk for a particular disorder. The aim of this paper is to demonstrate the invasive and non-invasive methods of prenatal diagnosis, which are the first and second trimesters recommended to be made to gain insight into the progression of pregnancy and healthy baby, and which is the attitude and attitude of the population about early detection of anomalies In pregnancy. He was trying to gain insight into how many populations he was referring to in conducting diagnostic trials to screen for the most common trisomy, whether women had undergone such tests, as much as they needed, which they would do in the case of a positive test on some of the chromosomal abnormalities. There were 225 people involved in the study. The majority of participants were women of different age groups. The research was conducted using a self-made questionnaire consisting of 15 questions, carried out on the website with the consent of the administrator. It included general information and data on attitudes to conduct prenatal tests. From the above mentioned statistical work, it is apparent that the opinions were divided when it comes to the importance of conducting diagnostic tests, but most of the women who participated were familiar with the tests and were subjected to previous pregnancies with the most commonly occurring trisomy tests in children