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ID naloge: 160 Letnik: 2003 Predmet: ginekologija in porodništvo
DIAGNOSTICNA AMNIOCENTEZA - INDIKACIJE IN REZULTATI PREISKAV
Avtor: Mateja Kaja Ježovnik, Tatjana Kitic
Mentor: doc. dr. Ksenija Geršak
IZHODIŠCE: Sesatvni del predporodnega zdravstvenega varstva so presejalni in diagnosticni testi.
Amniocenteza je diagnosticna metoda, s katero skozi trebušno steno pridobimo vzorec amnijske tekocine z namenom kariotipizacije, molekularno genetskih, biokemicnih in mikrobioloških preiskav ploda. Ob vse pogostejšem uveljavljanju zahtev po "na dokazih temeljeci" medicini, je potrebno vsak presejalni in diagnosticni postopek ustrezno ovrednotiti.
NAMEN: V Sloveniji zaenkrat nimamo zbranih podatkov o indikacijah, starostni strukturi in rezultatih amniocenteze s kariotipizacijo ploda. V ta namen smo želeli retrospektivno analizirati 4698 preiskovank, ki so imele diagnosticno amniocentezo opravljeno na Ginekološki kliniki Klinicnega centra Ljubljana v osemletnem obdobju od leta 1995 do 2002. Opredeliti smo želeli morebitne spremembe v obsegu in indikacijah za preiskavo po uvedbi prenatalnih presajalnih testov in ustvariti ustrezno bazo podatkov.
HIPOTEZE:
1. Starost preiskovank, ki so imele opravljeno amniocentezo, se z leti ne spreminja.
2. Z leti narašca število preiskovank, ki so imele opravljeno amniocentezo na podlagi pozitivnih izvidov presejalnih testov.
3. Rezultati preiskav opravljenih kariotipizacij se v obdobju od 1995 do 2002 kvantitativno ne spreminjajo.
4. Pri preiskovankah, ki so bile napotene na amniocentezo na podlagi pozitivnih izvidov presejalnih testov, je vec patoloških izvidov.
METODE: V retrospektivno raziskavo smo vkljucili vse nosecnice (5698), ki so bile napotene iz razlicnih delov Slovenije na diagnosticno amniocentezo na GK v Ljubljani v osemletnem obdobju od 1. januarja 1995 do 30. decembra 2002. Glede na indikacije smo jih razdelili v 10 skupin. Podatke smo zbrali iz medicinske dokumentacije, ki jo vodi Služba za medicinsko genetiko, manjkajoce podatke pa smo dopolnili iz registra podatkov za NS in THT ter kartotek pacientk, obravnavanih v ambulanti za genetsko svetovanje. Iz raziskave smo izlocili ženske, kjer ni bilo podatka o indikacijah za preiskavo in izvidu preiskave.
REZULTATI: Iz dokumentacije vodene pri postopkih amniocenteze in kartotek pacientk smo uspeli pridobiti popolne podatke za 98,4% (5610) preiskovank. Število opravljenih amniocentez je v posameznem koledarskem letu narašcalo. Povprecna starost preiskovank je bila 36,6 ± 4,1 let in v letu 2002 35,7 ± 4,7 let. Narašcalo je število preiskovank, ki so imele opravljeno amniocentezo na podlagi pozitivnih izvidov presejalnih testov. Delež patoloških izvidov kariotipizacije v istem casovnem obdobju ne kaže sprememb. Preiskovanke, ki so bile napotene na amniocentezo na podlagi pozitivnih izvidov presejalnih testov, ne iztopajo po deležu patoloških izvidov.
ZAKLJUCKI:
1. Z našo raziskavo smo zavrgli prvo hipotezo, saj smo ugotovili, da se starost preiskovank napotenih na diagnosticno amniocentezo z leti v povrecju znižuje.
2. Drugo hipotezo smo potrdili in pokazali, da z leti narašca število preiskovank, ki so imele opravljeno amniocentezo na podlagi izvidov presejalnih testov.
3. Delež patoloških izvidov se v opazovanem obdobju spreminja za vsako leto, v povprecju pa ostaja enak, tako da tretje hipoteze nsimo ne potrdili ne ovrgli.
4. Preiskovanke, ki so bile napotene na amniocentezo na podlagi pozitivnih izvidov presejalnih testov, ne iztopajo po deležu patoloških izvidov, s cimer smo ovrgli cetrto hipotezo. Najmocnejši napovedni dejavnik za kromosomsko nepravilnost pri plodu predstavlja kombinacija indikacij starost in UZ.
Glavni namen naše naloge, ustvariti racunalniško bazo, za vodenje podatkov o amniocentezah, ki bo v pomoc pri genetskem svetovanju in analizi za celotno populacijo slovenskih nosecnic, smo uspešno dosegli.
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[Abstract / English version]
DIAGNOSTICNA AMNIOCENTEZA - INDIKACIJE IN REZULTATI PREISKAV
Author: Mateja Kaja Ježovnik, Tatjana Kitic
Mentor: doc. dr. Ksenija Geršak
BACKGROUND: Screening and diagnostic tests are integral part of prenatal health care.
Amniocentesis is a diagnostic method providing a sample of the amniotic fluid through the abdominal wall; the sample is meant for various examinations to assess the fetal condition: karyotiping, biochemical and microbiological examinations. Due to inceraseing requirements of the evidence based medicine, it is an imperative to appropriately assess every screening and diagnostic procedure.
AIM: In Slovenia a comprehensive database on indications, women's age, and the results of amniocentesis has not been made yet. To fill in this gap, we analysed amniocenteses, carried out at the Department of Obstetrics and Gynecology of the Medical Centre of Ljubljana. Furthermore we aimed at detecting posible changes in the number and indication for amniocentesis after the introduction of prenatal screenig tests. Our major aim was to build a computer database for all women reffered for amniocenteses, in order to gain information for improvements in the genetic counselling programme.
HYPOTHESES: I. The average age of patients where amniocentesis was carried out does not change with years. II. In later period the number of amniocentesis carried out on the resultes of prenatal screening tests increases. III. The results of ckaryotipisation does not change in the researched period. IV. The cases where amniocentesis was carried out on the basis of screening tests we expect more pathological outcomes.
METHODS: We obtain data mostly in the archives runed by the Department for medical genetics. Missing data were obtained from data registry for NT and triplle test, as well as from the files of patients treated in the outpatient clinic for genetic counseling. There were 5610 patients included in the study. Cases where data about investigation, outcome and indication fo investigation were missing, were excluded.
RESULTS: With the dokumentation and patient charts we succeded to gain the information about 98,4 % of the whole research group. The number of performed amniocentesis during our research, between the period from 1 January 1995 till 30 December 2002, changed from year to year and rised up to the total number of 5698 in year 2002. I. The average age of the pregnant women who were sent to amniocentesis, changes in the researched period. II. The number of pregnant women, who had the amniocentesis performed on the basis of positive prenatal screening tests, rises. The share of pathological outcomes does not show dynamics, but it differs from year to year. IV. The women included in the research, who were sent to amniocenteses on the basis of prenatal screening tests, were statistically not significantly different from the other groups.
CONCLUSIONS: Listed results disproved our first hypotheses. The age of the pregnant women who were sent to amniocenteses in later period namely decreases. Furthermore we found out that the number of pregnant women who were sent to amniocentesis on the basis of prenatal screening tests increases. The third hypotheses was neither aproved or disproved. The share of the pathological outcomes does not show any dynamics, but is an independent figure. The share of pathological outcomes, compered to the control group, is not outstanding for preganant women who were sent to amniocentesis on the basis of positive prenatal screening tests, which was the reason for disproving our fourth hypotheses. The main aim of our research to build a computer data base for all women who were sent to amniocenteses, in order to gain information, which could help in the genetic counseling programme was successfully accomplished.
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