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Zapleti v nosecnosti pri preiskovankah z lažno pozitivnim rezultatom trojnega presejalnega testa
Avtor: Petja Fister
Mentor: doc. dr. Ksenija Geršak


IZHODIŠCE. Presejalni testi so sestavni del ucinkovitega zdravstvenega varstva nosecnic. Z njimi išcemo nosecnice s povecanim tveganjem za bolezni in zaplete v poteku in izidu nosecnosti ter plodove in otroke s prirojenimi nepravilnostmi. Pomembna skupina prenatalnih presejalnih testov so testi za odkrivanje kromosomskih nepravilnosti plodov. Najpogostejša kromosomska nepravilnost pri novorojenckih je trisomija 21. kromosoma ali Downov sindrom (DS). Trojni hormonski (presejalni) test (THT) je prenatalni presejalni test, s katerim na podlagi mnogokratnika normalne mediane (MoM) za tri kazalce v materinem serumu opredelimo tveganje za rojstvo otroka z DS. Ti trije hormonski kazalci so alfa-fetoprotein (AFP), humani horionski gonadotropin (hCG) in nekonjugirani estriol (uE3). Poleg koncentracij naštetih kazalcev upoštevamo tudi starost matere in velikost ploda. THT izvajamo v drugem trimesecju nosecnosti. Ob pozitivnem rezultatu THT nosecnici ponudimo diagnosticno preiskavo. Nosecnice, katerih citogenetska diagnostika plodovih celic pokaže normalen kariotip, uvrstimo v skupino lažno pozitivnih (LP). NAMEN. V literaturi najdemo nasprotujoce si podatke o zvecani pojavnosti zapletov v nosecnosti pri ženskah z LP rezultatom THT. Namen naše raziskave je bil retrospektivno zbrati in ovrednotiti podatke o poteku in zapletih v nosecnosti žensk iz celotne Slovenije, ki so imele THT v obdobju 1997-2000. Želeli smo ugotoviti, ce se pri ženskah z LP rezultatom THT pogosteje pojavljajo zapleti v nosecnosti kot pa pri ženskah s pravilno negativnim (PN) rezultatom. HIPOTEZE. I. Pri nosecnicah z LP rezultatom THT pogosteje prihaja do zapletov v nosecnosti kot pri ženskah s PN rezultatom THT. II. Nosecnice z LP rezultatom THT pogosteje prezgodaj rojevajo in imajo vec obporodnih zapletov kot ženske s PN rezultatom THT. III. Novorojencki mater z LP rezultatom THT imajo vec prirojenih nepravilnosti in/ali so lažji za gestacijsko starost. METODE. Z metodo prostovoljnega pismenega anketiranja smo zbrali podatke o poteku nosecnosti, poroda in poporodnega obdobja ter podatke o otroku. Manjkajoce podatke smo zbrali iz porodnih zapisnikov, listov novorojenckov in osebno po telefonu. Kriteriji vkljucitve v raziskovalno skupino so bili enoplodna nosecnost med 15. in 20. gestacijskim tednom in ustrezen biparietalni premer plodove glavice. V raziskavo smo vkljucili 2130 žensk. Iz raziskovalne skupine smo izlocili ženske z od insulina odvisno sladkorno boleznijo, vecplodno nosecnostjo in plodom ali otrokom z DS. V analizo smo vkljucili 2120 žensk. Nosecnice z racunalniško izracunanim tveganjem za rojstvo otroka z DS, ki je bilo vecje ali enako 1/190, so predstavljale študijsko LP skupino. Nosecnice z izracunanim tveganjem za rojstvo otroka z DS, ki je bilo manjše od 1/190, so predstavljale kontrolno PN skupino. Nenumericne spremenljivke smo medsebojno primerjali s testom hi-kvadrat. Kot statisticno pomembno razlicne smo oznacili tiste spremenljivke, pri katerih je bil p<0,05. REZULTATI. Z izpolnjenimi anketami in podatki iz porodnih zapisnikov ter listov novorojenckov smo zbrali odgovore za 97,41 % (2065/2120) žensk iz celotne raziskovalne skupine. V študijski skupini z LP rezultatom THT je bilo 194 nosecnic, v kontrolni skupini s PN THT pa 1871 žensk. I. Število zapletov v nosecnosti v študijski skupini ni bilo statisticno pomembno vecje kot v kontrolni skupini. II. Pogostost pojavljanja prezgodnjega poroda in obporodnih zapletov se med skupinama statisticno pomembno ni razlikovala. III. Število prirojenih nepravilnosti novorojenckov se med raziskovalnima skupinama statisticno pomembno ni razlikovalo. Novorojencki mater v študijski skupini niso bili pogosteje lažji za gestacijsko starost kot novorojencki mater v kontrolni skupini. ZAKLJUCKI. Omenjeni rezultati so zavrgli naše tri hipoteze. Zapleti v nosecnosti so se enako pogosto pojavljali pri nosecnicah z LP rezultatom THT in pri nosecnicah s PN rezultatom. Tudi prezgodnji porod in obporodni zapleti so se enako pogosto pojavljali pri skupini nosecnic z LP rezultatom THT in pri nosecnicah s PN rezultatom. Novorojencki mater z LP rezultatom THT so imeli enako število prirojenih nepravilnosti in so bili enako pogosto lažji za gestacijsko starost kot novorojencki mater v PN skupini. Na podlagi dobljenih rezultatov lahko zakljucimo, da je THT dober presejalni test za odkrivanje plodov z DS v Sloveniji. Naši rezultati ne podpirajo mnenja o potrebnem dodatnem nadzoru nosecnic z LP rezultatom THT do poroda. THT ni primeren za iskanje zapletov v nosecnosti in drugih prirojenih nepravilnosti plodov kot DS pri nosecnicah z LP rezultatom THT.


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[Abstract / English version]
Zapleti v nosecnosti pri preiskovankah z lažno pozitivnim rezultatom trojnega presejalnega testa
Author: Petja Fister
Mentor: doc. dr. Ksenija Geršak


BACKGROUND. Screening tests are a constituent part of efficient health care of pregnant women. With screening tests we look for pregnant women with increased risk of diseases and complications in course and outcome of pregnancy, and fetuses and children with congenital abnormalities. An important group of screening tests are tests for detecting fetal chromosomal abnormalities. The most common chromosomal abnormality in newborns is trisomy of 21. chromosome or Down's syndrome (DS). Triple hormone (screening) test (THT) is a prenatal screening test for identifying the risk of birth for a child with DS, according to log multiple of the median (MoM) of three maternal serum markers. The three hormone markers are alpha-fetoprotein (AFP), human horionic gonadotropin (hCG) and unconjugated oestriol (uE3). Beside concentrations of listed markers maternal age and fetal size are also considered. THT is performed in second trimester of pregnancy. We offer a diagnostic test to pregnant woman with positive result of THT. Pregnant women with normal karyotype results of cytogenetic diagnostics of fetal cells are classified as false positive (FP). AIM. Contradictory data are reported in literature on increased frequency of complications in pregnancy in women with FP result of THT. The aim of our retrospective research was to gather and evaluate data on course and complications in pregnancy of women from Slovenia who had THT in the period of 1997-2000. We wanted to find out if women with FP result of THT more often have complications of pregnancy than women with true negative (TN) result. HYPOTHESES. I. Pregnant women with FP result of THT more often have complications in pregnancy than women with TN THT result. II. Pregnant women with FP result of THT more often deliver prematurely and have more peripartal complications than women with TN result of THT. III. Newborns of mothers with FP result of THT have more congenital abnormalities and/or are lighter for gestational age. METHODS. Data on the course of pregnancy, labour, and postpartal period, and data on the child were gathered with a questionnaire. Missing data was obtained from delivery room records, child health databases and personally by telephone. Inclusion criteria in research group were sigleton pregnancy between 15. and 20. gestational week and appropriate biparietal diameter of fetal head. 2130 women were included in research. Women with insulin dependant diabetes mellitus, multiple pregnancy, and fetus or child with DS were excluded from research group resulting in 2120 women for analysis. Pregnant women with computer calculated risk of birth for a child with DS greater or equal 1/190 were included in study FP group. Pregnant women with computer calculated risk of a birth for a child with DS smaller than 1/190 were included in control TN group. Nonnumerical variables were reciprocally compared with chi-square test and p<0,05 was considered statistically significant. RESULTS. Completed questionnaires and data from delivery room records and child health databases gave us answers for 97,41 % (2065/2120) women from the whole research group. In the study group with FP result of THT there were 194 pregnant women, in control group with TN THT there were 1871 women. I. The number of pregnancy complications in study group was not statistically significantly greater than in control group. II. The frequency of preterm labour and peripartal complications was not statistically different among groups. III. The number of congenital abnormalities of newborns was not statistically significantly different among research groups. Newborns of mothers in study group were not frequently lighter for gestational age as newborns of mothers in control group. CONCLUSIONS. Listed results disproved our three hypotheses. Complications in pregnancy were equally frequent in groups of pregnant women with FP result of THT and pregnant women with TN result. Also, preterm labour and peripartal complications were equally frequent in groups of pregnant women with FP result of THT and pregnant women with TN result. Newborns of mothers with FP result of THT had equal number of congenital abnormalities and were equally frequently lighter for gestational age than newborns of mothers in TN group. According to the results we can conclude that THT is a good screening test for detecting fetuses with DS in Slovenia. Our results do not support the opinion that additional surveillance of pregnant women with FP result of THT until delivery is needed. THT is inappropriate for detecting complications in pregnancy and congenital fetal abnormalities other than DS in pregnant women with FP result of THT.