<p>UVOD Prenatalna dijagnostika predstavlja skup metoda i postupaka čiji je cilj da potvrde ili isključe postojanje kongenitalnih anomalija ploda. Prenatalni skrining može biti ne invazivni i invazivni. Ne invazivni skrining treba da ima visku senzitivnost i da omogući adekvatnu selekciju trudnica kojima će se predložiti genetsko ispitivanje ploda iz uzoraka dobijenih invazivnim metodama prenatalne dijagnostike. Prenatalni skrining prvog trimestra trudnoće obuhvata ultrazvučni pregled debljine nuhalne translucencije i laboratorijsku analizu dva biohemijska markera od 11 do 14 nedelje trudnoće, Prenatalni skrining drugog trimestra trudnoće koji se zasniva na biohemijskom skriningu i tripl testu iako je jedini koji se primenjuje zbog niske senzitivnosti od 20% do 40%, ne može se smatrati validnim. Integrativni biohemijski test prvog i drugog trimestra imaj veću senzitivnost (od 40 do 60%) ali ni on nije dao očekivane rezultate u adekvatnoj selekciji trudnica za genetsku analizu ploda zbog visoke stope lažno pozitivnih rezultata. Drugi trimestar trudnoće omogućava sonografskim pregledima i biohemijskim analizama dopunski način a u nekim slučajevima i jedini u proceni postojanja rizika Daunovog sindroma ili nekih drugih hromozomskih aberacija ploda Zato je primena integrativnih prenatalnih ne invazivnih metoda prvog i drugog trimestra trudnoće veoma značaja u pobolj&scaron;anju dijagnostičkih vrednosti prenatalnih skrining testova i ima za cilj da smanji procenat invazivnih procedura zbog mogućih komplikacija i ne potrebnih finansijskih tro&scaron;kova. Daunov sindrom(trizomija 21 para hromozoma) je najče&scaron;ća hromozomska numerička aberacija praćena mentalnom retardacijom dece (I.Q&lt;70. ) Deca sa Daunovim sindromom su karakterističnog fenotipskog izgleda i sa čestim kongenitalnim anomailjama koje im onemogućavaju normalan život a često su i uzrok njihove prerane smrtnosti. Kongenitalne anomalije su zastupljene kod 2% do 5% živo rođene dece, predstavljaju 25 % perinatalne smrtnosti, četvrtina su uslovljnene hromozomskim aberacijama ili naslednom osnovom, od čega 0, 2%-0, 4% su sa Daunovim sindromom. CILJEVI Ciljevi četrorogodi&scaron;njeg istraživanja su bili da se pobolj&scaron;a dijagnostička vrednost postojećih prenatalnih testova, da se potvrdi značaj ultrazvučnog skrininga drugog trimestra trudnoće analizom debljine vratne brazde i dužine butne kosti ploda te da se pobolj&scaron;a njegova senzitivnost korporativnom sonografskom analizom cefaličnog indexa, intraorbitalnog rastojanja i dužine fronto-talamične distance. MATERIJAL I METODE Ukupan broj trudnica obuhvaćen četvorogodi&scaron;njim ispitivanjem koje su ultrazvučno pregledane i kojima je savetovano genetsko ispitivanje ploda blio je 4552. Tokom Retrospektivnog dvogodi&scaron;njieg ( 2010.2011)bila je 2169 dok je prospektivnom dvogodi&scaron;njom analizom (2012, 2013)je bilo obuhvaćeno 2383 trudnica. Ispitivana grupa su bile trudnice kod kojih je genetskom analizom otkriven patolo&scaron;ki kariotip ploda, kontrolna grupa je obuhvatila sve ostale trudnice kod je kariotip ploda bio normalan od kojih su 124 trudnice odabrane metodom slučajnog izbora. Retrospektivnom studijom ultrazvučna je pregledana dužina vratne brazde(&gt;6mm i dužina butne kosti&lt;0, 6 od 14 do 22 nedelje trudnoće. Analizirana je cirkulacija fetalne krvi kroz duktus venosus ploda( a talas) i postojanje nosne kosti ploda(+, -). Prospektivnom analizom je ultrazvučnim pregledom ploda dodatno analiziran cefalični index(&gt;85%), i intraorbitalna distanca i duzina fronto-talamične distance(&lt;80%) ploda. Kori&scaron;ćene su metode deskriptivne statističke analize, aritmetička sredina, standardna devijacija, najmanja i najveća vrednost kod parametrijskih obeležja dok su za ne parametrijska postojanje nosne kosti i alfa talasa duktusu venozusu kori&scaron;ćene druge statističke metode, a komparativnim statističkim metodama kod normalnih, patolo&scaron;kih i kariotipova sa Daunovim sindromom ploda. Statistička značajnost je dokazana t testom a definisana nivoom p&lt;0, 05 i p&lt;0, 001 odnosom kod normalnih, patolo&scaron;kih kariotipova i Daunovog sindroma. Multifaktorskom regresivnom logističkom analizom je urađena procena senzitvnosti prenatalnog ultrazvučnog skrininga sa ispitivanim obeležjima drugog trimestra trudnoće REZULTATI I DISKUSIJA Od ukupnog broja ultrazvučno pregledaninh trudnica 4552 kojima je savetovano genetska analiza ploda citogenetskom analizom je otkriveno 66 patolo&scaron;kih kariotipova 1, 49%, sa Dunovim sindromom 31 0, 68%. Deskriptivnom statističkom obradom ultrazvučno ispitivanih obeležja od 14 do 22 nedelje trudnoće, uočeno je odstupanje i potvrđen značaj starije životne dobi trudnica, debljine vratne brazde i dužine frontotalamične distance u odnosu na normalne nalaze katiotipova ploda u predikciji Daunovog sindroma.Vrednosti dužine butne kosti, cefaličnog indeksa i intraorbitalnog rastojanja nisu imala veća odstupanja u poređenju pato&scaron;kokih i normalnih nalaza kariotipova.Studentovim t testom je i dokazano p&lt;0, 001 za debljinu vratne brazde i dužinu fronto-talamične distance, dok je za stariju životnu dob trudnice potvrđeno a;0, 001. Senzitivnost prenatalnog skrininga drugog trimestra analizom debljine vratne brazde i dužine butne kosti je veća u odnosu na standardno primenjivan biohemijski skrining drugog trimestra tripl testa (senzitivnost 40%-60) sa velikom stopom lažno pozitivnih rezultata.Dokazan je značaj pobolj&scaron;anja senzitivnosti prenatalnih skrining testova dopunskom analizom tri ultrazvučna parametra, dužine fronto-talamične distance, cefaličnog indeksa i intraorbitalnog rastojanja u predikciji Daunovog sindroma, ali i kod ostalih hromozomskih aberacija ploda u periodu od 14 do 22 nedelje trudnoće primenomi multifaktorske logističke regresivne analize senzitivnost preko 93% sa 7% lažno pozitivnih rezultata. Postojanje korelacije između debljine vratne brazde i dužine fronto-talamične distance ploda pobolj&scaron;avai senzitivnost prenatalnih ultrazvučnog skrininga. Integrativnim pristupom ultrazvučnog i biohemijskog skrininga drugog trimesra trudnoće, tripl testa očekuje se pobolj&scaron;ati dijagnostičkih vrednosti prenatalnog skrininga senzitivnost ne invazivnog skrininga u predikciji Daunovog sindroma i ostalih hromozomskih aberacija ploda. ZAKLJUČCI 1Potvrđen je značaj starije životne dobi trudnice u povećanju rizika Daunovog sindoma, i ostalih hromozomskih aberacija ploda ( p&lt;0, 001) Potvrđen je značaj zadebljanja vratne brazde ploda &gt;6mm(p&lt;0, 001) i skraćenja butne kosti kod Daunovog sindroma ploda od 14 do 22 nedelje trudnoće u prenatalnom otkrivanju Dunovog sindroma i ostalih hromozomskih aberacija ploda i selekciji trudnica kojima će se predložiti genetsko ispitivanje ploda.Potvrđena je hipoteza da skraćenje fronto-talamične distance pobolj&scaron;ava senzitivnost ultrasonografskog skrininga, jer če&scaron;će postoji kod Daunovog sindroma ploda ali i ostalih numeričkih hromozomskih aberacija tipa, nego kod normalnih nalaza kariotipa ploda( p&lt;0, 001).Komparativnom analzom ultrazvučnim pregledom fronto-talamična distance debljine vratne brazde i dužine butne kosti ploda od 14 do 22 nedelje trudnoće može se značajno pobolj&scaron;ati vrednost dijagnostičkih prenatalnih testova u predikciji Daunovog sindroma. Postojanje korelacija između fronto-talamične distance i debljine vratne brazde dopunjuje ultrazvučni skrining i povećava njegovu senzitivnost na preko 90%, &scaron;to je multifaktorskom regresivnom logaritamskom analizom i potvrđeno. Značaj multidisciplinarnog pristupa pogotovo je izražen u predikciji Daunovog sindroma, obzirom na različite specijalnosti koje u njemu učestvuju. Cost &ndash; benefit analiza. Visoka senzitivnost ne invazivnog prenatalnog skrininga u predikciji Daunovog sindroma, smanjuje tro&scaron;kove za pojedince i državu jer je njihova cena i do dest puta manja od cene citogenetskih analiza, a i trudnice se ne izlažu riziku mogućih komplikacija prilikom izvođenja invazivnih metoda</p> / <p>INTRODUCTIONS Prenatal diagnostic procedure represent a set of methods and techniques with the aim to afirmate or eliminate the presence of Down&rsquo;s syndrome and other congenital anomalies Can be non-invasive and invasive methods. Non-invasive methods (laboratory or ultrasonographic) have the aim to make possible the most valid assessment of the risk of presence of an affected fetus in the pregnancy, selected pregnancy for invasive diagnostics procedures and citogenetics analisseskariotipingfoeti. Down&rsquo;s syndrome, aneuploidy with trisomy 21 chromosomal, is the most common chromosomal numerical aberration associated with mental retardation of children (IQ&lt; 70). Children with Down&rsquo;s syndrome have characteristic phenotypic appearance with high frequent congenital anomalies that preclude a normal life and are frequently the cause of their earlier death. AIM The aim of the four year long investigation was to confirm the importance of ultrasound screening by the analyses of the basic ultrasound parameters for the second trimester, the thickness of the nuchal fold and the length of the femur of the fetus in the prediction of Down&rsquo;s syndrome and other chromosomal aberrations of the fetus, as well as to improve other existing ultrasonic screenings of the first and second trimester of pregnancy by ultrasonic examination and analyses of the cephalic index and intraorbital space and the length of the fronto-thalamic distance. MATERIAL AND METODS Retrospective investigation (2010. 2011) and prospective investigation (2012.2013) includes 4655 pregnant women. For all pregnant women the genetic investigation of the fetus was performed. A total of 68 were found with chromosomal aberrations, 38 with Down&rsquo;s syndrome. The method of haphazard choice in retrospective study and in prospective study ultrasound markers are examined. In retrospective analyses of the nuchal fold (&lt;6mm and the length of femur &lt;0.6, that represent basic ultrasound screening of the second trimester and are analyzed as parametric signs of the second trimester, and are analyzed as parametric markers, and analyses of the circulation of fetal blood through ductus venosus of the fetus. In the retrospective study the length of the nuchal fold (&gt;6mm in length, that represent a basic ultrasound screening of the second trimester, and are analyzed as parametric markers in the prediction of Down&rsquo;s syndrome and other chromosomal aberrations. RESULTS AND DISCUSION Cytogenetic analyses revealed 66 (1, 49%) pathologic karyotypes and Down syndrome were present in 31 (0, 68%) cases. All pathologic karyotypes were obtained after ultrasound examinations of 4552 pregnant women. Ultrasound markers for period 14th-22nd GW were analyzed with descriptive statistical methods and importance of pregnancy in older women, thickness of nuchal fold and lengths frontal thalamic distance were proofed in case of Down syndrome. Femoral bone lengths, cephalic index and intraorbital distances were similar for both groups, normal and pathologic karyotypes. Student&rsquo;s t test revealed statistical significance with p&lt;0, 001 values for nuchal fold thickness, frontal thalamic distance and older ages.Three additional ultrasound markers (frontal thalamic distance, cephalic index, intraorbital distance) improve prediction of Down syndrome and other chromosomal aberrations between 14th and 22nd GW as well. Multifactorial logistic regressive analyses revealed 93% sensitivity with 7% false positive results. Corelation between nuchal fold thickness and frontal thalamic distance improve prenatal ultrasound screening sensitivity. Using both ultrasound and biochemical screening (triple test) is way to improve sensitivity of non invasive screening in prediction of Down syndrome and other chromosomal aberrations. CONCLUSIONS Importance of pregnant women ages and higher risk for Down syndrome and other chromosomal aberrations was proofed (p&lt;0, 001).Importance of nuchal fold thickness above 6mm (p&lt;0, 001) and shorter femoral bone marker in period from 14th to 22nd GW in prediction of Down syndrome and other chromosomal aberrations are proofed (p&lt;0, 001). Hypothesses that frontal thalamic distance improve ultrasound screening sensitivity was proofed was proofed (p&lt;0, 001) since it is significantly shorter in Down syndrome and other chromosomal aberrations in comparison with fetuses with normal karyotypes. Comparative analyses of frontothalamic distance, nuchal fold thickness and femoral bone length in period from 14th to 22nd GW can signifi cantly improve prenatal diagnostic testing in Down syndrome prediction. Correlation between frontothalamic distance and nuchal fold thickness improve ultrasound screening sensitivity on 93% that is proofed with multifactorial logistic regressive analyses. Significance of multidisciplinary approach is high in Down syndrome prediction. Cost-benefit: High sensitivity of non invasive prenatal screening in Down syndrome prediction reduces costs for families and government since it costs ten time less than cytogenetic analyses and risk with invasive procedures is avoided.</p>

OBJETIVOS: Avaliar os efeitos da rubéola durante a gestação, sobre o feto, o recém-nascido e a criança. CASUÍSTICA E MÉTODO: Analisamos 35 gestantes com suspeita de rubéola que foram divididas em dois grupos. Grupo 1: 15 pacientes que apresentaram quadro clínico com comprovação sorológica. Grupo2: 20 pacientes com IgM positiva na rotina pré-natal, na ausência de quadro clínico. O seguimento ultrasonográfico mensal foi realizado em todas as pacientes e as do grupo 1 foram encaminhadas também para propedêutica invasiva. Foram também realizadas a ecocardiografia fetal e a Dopplervelocimetria. As placentas foram submetidas a exame anátomo-patológico. Os recém-nascidos vivos foram avaliados através de exame clínico e sorológico, além do potencial evocado auditivo, ultra-sonografia de crânio, fundo de olho e ecocardiografia pós-natal. RESULTADOS: No grupo 1: a infecção fetal ocorreu em 9 casos, sendo que o risco de transmissão vertical entre 2 a 14 semanas foi de 64,9%. A malformação ocorreu em 37,5% dos infectados. A ultrasonografia revelou crescimento intra-uterino retardado simétrico em todos os fetos infectados que atingiram o terceiro trimestre, tendo se iniciado, em média com 25,1 semanas. A cordocentese foi realizada em 9 pacientes e, todos os casos infectados, apresentavam IgM positiva e eritroblastose no sangue de cordão. A PCR no líquido amniótico foi positiva em todos os 3 casos em que ela foi realizada. 50% das placentas dos fetos infectados apresentava sinais sugestivos de infecção viral. A idade gestacional média do parto entre os infectados foi de 33,8 semanas e o peso médio ao nascimento foi 1365,6g.Todos os 6 nascidos-vivos infectados foram classificados como pequenos para a idade gestacional e apresentaram disacusia. A sobrevida entre os infectados, num seguimento pós-natal médio de 35,2 meses, foi de 62,5%. No grupo 2: a infecção não foi comprovada em nenhum dos recém-nascidos vivos, porém em um caso pudemos demonstrar a infecção congênita pelo vírus de Epstein-Barr. CONCLUSÕES: A transmissão vertical da rubéola no primeiro trimestre parece poder variar entre as populações, bem como a presença dos defeitos associados à infecção. Tanto o diagnóstico invasivo, como o ultrasonográfico apresentaram boa sensibilidade e especificidade. Pudemos estabelecer o padrão de crescimento fetal associado à infecção. A presença isolada de IgM positiva para rubéola na gestação não teve boa correlação com a presença de infecção neonatal, porém pode se associar à presença de outras infecções congênitas. / OBJECTIVES: Our aim was to analyse rubella effects on the fetus, new-born and child. MATERIAL AND METHODS: We analysed 35 patients with suspicious rubella during pregnancy. According to presence or absence of symptoms they were divided in two groups. Group 1: 15 patients presenting rash in which serology was positive. Grupo2: 20 symptomless patients found to have positive IgM during routine prenatal care. Monthly ultrasonographic evaluation was accomplished in all patients and in group 1 they were also offered prenatal invasive testing. Fetal echocardiography and Dopplers were performed. After birth, the placentas were submitted to pathological examination. The liveborn babies had clinical and serological examination. Auditory tests, brain scan, fundoscopy and postnatal echocardiography were also performed. RESULTS: In group 1: fetal infection occurred in 9 cases and vertical transmission between 2 to 14 weeks was 64,9%. Malformation was present in 37,5% of infected cases. Ultrasound revealed symmetrical intra-uterine growth retardation in all infected fetuses that reached the third trimester, and started around 25,1 weeks. Cordocentesis was accomplished in 9 cases and all the infected ones, presented positive IgM and erythroblastosis in cord blood. PCR in the amniotic fluid was positive in all 3 cases it was performed. 50% of the infected fetuses placentas presented signs of viral infection. The average gestacional age of delivery among infected cases was 33,8 weeks and medium birth weight was 1365,6g. All 6 liveborn infected babies were small for gestacional age and presented deafness. Survival among infected cases was 62,5%, medium follow-up was 35,2 months. In group 2: the infection was not demonstrated in any of neonates, although we could demonstrate a congenital infection caused by the Epstein-Barr virus. CONCLUSIONS: Vertical transmission of the rubella in the first trimester seems to vary among different populations, as well as the presence of the associated defects in the new-born. Invasive diagnosis and ultrasonographic follow-up presented good sensitivity and specificity. We could establish the pattern of fetal grown associated to the infection. The isolated presence of a positive rubella IgM in pregnancy did not correlated with congenital rubella, but it can be related to other congenital infections.

OBJETIVOS: Avaliar os efeitos da rubéola durante a gestação, sobre o feto, o recém-nascido e a criança. CASUÍSTICA E MÉTODO: Analisamos 35 gestantes com suspeita de rubéola que foram divididas em dois grupos. Grupo 1: 15 pacientes que apresentaram quadro clínico com comprovação sorológica. Grupo2: 20 pacientes com IgM positiva na rotina pré-natal, na ausência de quadro clínico. O seguimento ultrasonográfico mensal foi realizado em todas as pacientes e as do grupo 1 foram encaminhadas também para propedêutica invasiva. Foram também realizadas a ecocardiografia fetal e a Dopplervelocimetria. As placentas foram submetidas a exame anátomo-patológico. Os recém-nascidos vivos foram avaliados através de exame clínico e sorológico, além do potencial evocado auditivo, ultra-sonografia de crânio, fundo de olho e ecocardiografia pós-natal. RESULTADOS: No grupo 1: a infecção fetal ocorreu em 9 casos, sendo que o risco de transmissão vertical entre 2 a 14 semanas foi de 64,9%. A malformação ocorreu em 37,5% dos infectados. A ultrasonografia revelou crescimento intra-uterino retardado simétrico em todos os fetos infectados que atingiram o terceiro trimestre, tendo se iniciado, em média com 25,1 semanas. A cordocentese foi realizada em 9 pacientes e, todos os casos infectados, apresentavam IgM positiva e eritroblastose no sangue de cordão. A PCR no líquido amniótico foi positiva em todos os 3 casos em que ela foi realizada. 50% das placentas dos fetos infectados apresentava sinais sugestivos de infecção viral. A idade gestacional média do parto entre os infectados foi de 33,8 semanas e o peso médio ao nascimento foi 1365,6g.Todos os 6 nascidos-vivos infectados foram classificados como pequenos para a idade gestacional e apresentaram disacusia. A sobrevida entre os infectados, num seguimento pós-natal médio de 35,2 meses, foi de 62,5%. No grupo 2: a infecção não foi comprovada em nenhum dos recém-nascidos vivos, porém em um caso pudemos demonstrar a infecção congênita pelo vírus de Epstein-Barr. CONCLUSÕES: A transmissão vertical da rubéola no primeiro trimestre parece poder variar entre as populações, bem como a presença dos defeitos associados à infecção. Tanto o diagnóstico invasivo, como o ultrasonográfico apresentaram boa sensibilidade e especificidade. Pudemos estabelecer o padrão de crescimento fetal associado à infecção. A presença isolada de IgM positiva para rubéola na gestação não teve boa correlação com a presença de infecção neonatal, porém pode se associar à presença de outras infecções congênitas. / OBJECTIVES: Our aim was to analyse rubella effects on the fetus, new-born and child. MATERIAL AND METHODS: We analysed 35 patients with suspicious rubella during pregnancy. According to presence or absence of symptoms they were divided in two groups. Group 1: 15 patients presenting rash in which serology was positive. Grupo2: 20 symptomless patients found to have positive IgM during routine prenatal care. Monthly ultrasonographic evaluation was accomplished in all patients and in group 1 they were also offered prenatal invasive testing. Fetal echocardiography and Dopplers were performed. After birth, the placentas were submitted to pathological examination. The liveborn babies had clinical and serological examination. Auditory tests, brain scan, fundoscopy and postnatal echocardiography were also performed. RESULTS: In group 1: fetal infection occurred in 9 cases and vertical transmission between 2 to 14 weeks was 64,9%. Malformation was present in 37,5% of infected cases. Ultrasound revealed symmetrical intra-uterine growth retardation in all infected fetuses that reached the third trimester, and started around 25,1 weeks. Cordocentesis was accomplished in 9 cases and all the infected ones, presented positive IgM and erythroblastosis in cord blood. PCR in the amniotic fluid was positive in all 3 cases it was performed. 50% of the infected fetuses placentas presented signs of viral infection. The average gestacional age of delivery among infected cases was 33,8 weeks and medium birth weight was 1365,6g. All 6 liveborn infected babies were small for gestacional age and presented deafness. Survival among infected cases was 62,5%, medium follow-up was 35,2 months. In group 2: the infection was not demonstrated in any of neonates, although we could demonstrate a congenital infection caused by the Epstein-Barr virus. CONCLUSIONS: Vertical transmission of the rubella in the first trimester seems to vary among different populations, as well as the presence of the associated defects in the new-born. Invasive diagnosis and ultrasonographic follow-up presented good sensitivity and specificity. We could establish the pattern of fetal grown associated to the infection. The isolated presence of a positive rubella IgM in pregnancy did not correlated with congenital rubella, but it can be related to other congenital infections.

In this thesis, we deal with the issue of invasive methods of prenatal care from a nursing perspective using standardized classification schemes NANDA, NIC and NOC, which offer many opportunities to streamline, simplify and improve the care of women who undergo invasive procedures. The theoretical part is focused on screening in prenatal care, individual invasive methods and the most common congenital malformations of the child. Furthermore, standardized classification systems NANDA, NIC and NOC, which represent a common nursing language. The empirical part of the dissertation is processed using qualitative strategy. To collect data, we selected the following research methods: content analysis of documents, evaluation using Fehring's model. The first goal was to detect and identify the problems that women face after amniocentesis (AMC), chorionic villus sampling (CVS) and cordocentesis and second goal was to assess the applicability of selected issues of classification systems NANDA, NIC and NOC with Fehring's model of validation of nursing diagnoses. Using content analysis, we have selected three nursing diagnosis from the NANDA International Taxonomy II, from publication of Nursing Interventions clasification (NIC) 3 nursing interventions and from Nursing Outcomes Clasification (NOC) 4 expected results, which are focused on the respondents after invasive methods. From selected nursing diagnoses of NANDA, NIC interventions and NOC expected results, we have developed a research form, specific questionnaire we submitted to the validation by respondents. The survey was carried out from January to March 2015 in the polyclinic GENNET Ltd. - Centrum of Medical genetics and reproductive medicine and in a private clinic OG Medical Center Ltd. The sample consisted of 34 intentionally selected respondents who underwent amniocentesis, chorionic villus sampling, or cordocentesis. The outcome of this thesis is the basic concept of the nursing diagnosis, according to NANDA-I, NIC and NOC aimed at women after invasive methods for prenatal care. Research has shown that with the the vast majority of respondents significantly exhibited symptoms of fear and anxiety. In contrast, in terms of the respondents reported that the knowledge of the issue is sufficient. This result is influenced by the fact that respondents find a lot of information on the Internet, but that may not always be true. Unfortunately, the results showed that it is more a problem of communication and interest of the medical staff.